Details of the Researcher

PHOTO

Soichi Ogishima
Section
Advanced Research Center for Innovations in Next-Generation Medicine
Job title
Professor
Degree
e-Rad No.
40447496

Research History 11

  • 2024/04 - Present
    Osaka University

  • 2023/09 - Present
    Hokkaido University

  • 2020/03 - Present
    Tohoku University The Advanced Research Center for Innovations in Next-Generation Medicine (INGEM)　Professor

  • 2018/04 - Present
    Tohoku Medical Megabank Organization, Tohoku University　, Dept. of Informatics for Genomic Medicine　Professor

  • 2006/04 - 2022/03
    Tokyo Medical and Dental University

  • 2014/10 - 2018/03
    Tohoku University　Tohoku Medical Megabank Organization, Department of Health Record Informatics

  • 2012/05 - 2014/09
    Tohoku University　Tohoku Medical Megabank Organization, Department of Health Record Informatics

  • 2007/04 - 2012/04
    Tokyo Medical and Dental University　Medical Research Institute, Medical Genomics

  • 2009/05 - 2009/11
    ハイデルベルク大学 ドイツがんセンター　定量システム生物学研究所(BIOQUANT)　客員研究員

  • 2007/01 - 2007/03
    Tokyo Medical and Dental University　Medical Research Institute, Medical Genomics

  • 2006/04 - 2006/12
    東京医科歯科大学 情報医科学センター　特任助手

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Education 4

  • Tokyo Medical and Dental University　Graduate School of Medical and Dental Sciences　Dept. of Bioinformatics

    2001/04 - 2005/03

  • Tokyo Medical and Dental University　Medical Research Institute

    1999/04 - 2001/03

  • The University of Tokyo　The Faculty of Engineering　Department of Mathematical Engineering and Information Physics

    1996/04 - 1999/03

  • The University of Tokyo　College of Arts and Sciences

    1994/04 - 1996/03

Committee Memberships 87

  • 厚生労働省 全ゲノム解析等の推進に関する専門委員会　委員

    2025/10 - Present

  • ISO/TC 276 国内審議委員会　WG5 国内審議委員会 委員長

    2025/07 - Present

  • 厚生労働省 ゲノムデータの個人識別性に関する検討会　委員

    2025/06 - Present

  • NEDO 懸賞金活用型プログラム/量子コンピュータを用いた 社会問題ソリューション開発」事業　審査委員

    2025/04 - Present

  • DDBJ　DNAデータ研究利用委員会委員

    2025/04 - Present

  • 情報計算化学生物学会ジャーナル　副編集委員長

    2024/04 - Present

  • HL7 Japan Technical Committee Genome WG　Chairperson

    2020/05 - Present

  • Japan Society for Omics-based Medicine　Board Member

    2019/06 - Present

  • IMIA Standards in Health Care Informatics WG　Chair

    2019 - Present

  • がんゲノム医療中核病院WG 患者情報登録WG　構成員

    2018/05 - Present

  • がんゲノム医療中核病院WG　委員

    2018/05 - Present

  • 一般社団法人 日本ユーザビリティ医療情報化推進協議会（JUMP）ゲノムが作る新たな医療推進委員会　委員

    2016 - Present

  • The Chem-Bio Informatics Society, CBI Journal　Bioinformatics and its applications in medicine, Area editor

    2013/06 - Present

  • Japanese Society for Bioinformatics　Biological system theory, vice chairman

    2012/06 - Present

  • Japan Open Bioinformatics Research Group　Steering committee member

    2005 - Present

  • 一般社団法人健康医療情報が拓く未来会議　地域住民を対象とした個別化がん予防介入研究プロジェクト 「個別化がん予防プログラム」委員

    2025/07 - 2027/03

  • 一般社団法人健康医療情報が拓く未来会議　地域住民を対象とした個別化がん予防介入研究プロジェクト 「AIがんリスク予測モデル開発チーム」委員

    2025/07 - 2027/03

  • 一般社団法人健康医療情報が拓く未来会議　地域住民を対象とした個別化がん予防介入研究プロジェクト 「データ収集・管理チーム」委員

    2025/07 - 2027/03

  • 文部科学省 ライフサイエンス研究基盤整備事業 ナショナルライフサイエンスデータベースプロジェクト　プログラムオフィサー

    2025/04 - 2027/03

  • 国立研究開発法人 理化学研究所　バイオリソース研究センター リソース検討委員

    2021/11 - 2027/03

  • ISO/TC276 Domestic Deliberation Council　Council member (WG5 : Data Processing)

    2019/03 - 2027/03

  • クリニカルバイオバンク学会　理事

    2023/02 - 2027/02

  • 日本医学会　医学用語管理委員会 委員

    2020/09 - 2026/08

  • ISO/TC215 SC1 Domestic Deliberation Council　Chairperson

    2020/10 - 2026/06

  • 厚生労働省　「ゲノムデータの個人識別性に関する検討会」 構成員

    2025/06 - 2026/05

  • 情報計算化学生物学会 CBIジャーナル編集委員会　副編集委員長

    2025/04 - 2026/03

  • 情報計算化学生学会（CBI学会）　執行部会委員

    2025/04 - 2026/03

  • 新エネルギー・産業技術総合開発機構（NEDO）　NEDO技術委員

    2025/02 - 2026/03

  • 国立研究開発法人国立国際医療研究センター　感染症臨床研究ネットワーク事業 システム・DX小委員会 委員

    2024/08 - 2026/03

  • 国立研究開発法人 国立国際医療研究センター　感染症臨床研究ネットワーク事業 ヒトゲノム小委員会 委員

    2024/07 - 2026/03

  • 日本バイオインフォマティクス学会　理事

    2024/04 - 2026/03

  • Japanese Association for Medical Artificial Intelligence　Council member

    2020/07 - 2026/03

  • The Chem-Bio Informatics Society　Council member

    2014/04 - 2026/03

  • 情報計算化学生物学会(CBI学会)2025年大会　実行委員

    2025/01 - 2025/10

  • 情報計算化学生物学会（CBI学会）2025年大会　プログラム委員

    2025/01 - 2025/10

  • 公益財団法人 日本適合性認定協会　技術アドバイザ（バイオバンク分野）

    2020/10 - 2025/09

  • 日本医療情報学会　国際委員会委員

    2022/07 - 2025/06

  • 健康医療情報が拓く未来会議　WG4「ゲノムのある診察室」委員

    2023/07 - 2025/03

  • 国立研究開発法人 国立国際医療研究センター　新興・最高感染症データバンク事業ナショナル・リポジトリ（REBIND）利活用委員会委員

    2021/08 - 2025/03

  • 情報計算化学生物学会 （CBI学会） 2024年大会　実行委員

    2024/01 - 2024/10

  • 情報計算化学生物学会 (CBI学会）2024大会　プログラム委員

    2024/01 - 2024/10

  • The Chem-Bio Informatics Society, CBI Journal　Editorial committee member

    2013/04 - 2024/03

  • 第9回 クリニカルバイオバンク学会シンポジウム　大会長

    2023 - 2024

  • 情報計算化学生物学会 （CBI学会）2023年大会　実行委員長

    2023/01 - 2023/10

  • 情報計算化学生物学会 (CBI学会）2023年大会　プログラム委員

    2023/01 - 2023/10

  • 国立がん研究センター東病院　SCRUM-Japan MONSTAR-SCREEN-2 データベース委員会委員 委員

    2021/09 - 2023/10

  • 国立研究開発法人 新エネルギー・産業技術総合開発機構　分野横断的公募事業のピアレビュア

    2019/04 - 2023/03

  • Japanese Society for Bioinformatics　Board Member

    2019/04 - 2023/03

  • 公益財団法人 放射線影響研究所　特別科学諮問委員

    2022 - 2023

  • The Chem-Bio Informatics Society　Program committee Chair

    2021/10 - 2022/10

  • 国立大学法人 東京大学医科学研究所　ゲノム医療実現バイオバンク利活用プログラム（ゲノム研究バイオバンク）「バイオバンク・ジャパンあり方検討委員会」委員

    2021/06 - 2022/03

  • 国立研究開発法人日本医療研究開発機構（AMED）　「AMEDデータ利用審査のあり方検討会議」外部有識者

    2021/05 - 2022/03

  • 次世代生命医学研究所（旧：オミックス医療協会）　監事

    2010/01 - 2021/12

  • The Chem-Bio Informatics Society CBI Annual Meeting　Executive committee member

    2021/02 - 2021/10

  • The Chem-Bio Informatics Society CBI Annual Meeting　Program committee member

    2014 - 2021/10

  • KDDI総合研究所　パーソナルデータ流通の運用技術に関する標準化検討会委員

    2020/12 - 2021/03

  • 四次元医療改革研究会　電子カルテ改革分科会構成員

    2020/11 - 2021/03

  • PeOPLe/OPERA事業 ヘルスケアデータと倫理TF　委員

    2020/07 - 2021/03

  • Japanese Society for Bioinformatics　Secretary

    2015/04 - 2021/03

  • 一般財団法人 国際情報システム開発センター　オミックス情報国際標準化検討会 委員

    2014/04 - 2021/02

  • 一般社団法人 日本マイクロバイオ－ムコンソーシアム　NEDO先導研究プログラム研究開発推進委員会 外部委員

    2018 - 2020/10

  • ISO/TC215 SC1 Domestic Deliberation Council　Council member

    2019/11 - 2020/04

  • 国立研究開発法人 日本医療研究開発機構（AMED）　科学技術調査員

    2019/08 - 2020/03

  • 国立研究開発法人 理化学研究所　バイオリソース研究センター リソース検討委員

    2018/12 - 2020/03

  • 一般社団法人 バイオ産業情報化コンソーシアム　IoT推進のための新産業モデル創出基盤整備事業「ライフデータ利活用環境等に関する調査の実施」有識者委員会 委員

    2016/07 - 2017/03

  • 経済産業省　IoT 推進のための新事業モデル創出基盤整備事業 有識者委員会 委員

    2015/07 - 2017/03

  • オミックス医療研究会　幹事

    2011/04 - 2013/10

  • Japanese Society for Bioinformatics　Applied systems biology research group, vice chairperson

    2010/10 - 2012/05

  • 日本医療情報学会　第42回医療情報学連合大会 プログラム委員

    2025 -

  • 第12回生命医薬情報学連合大会（IIBMP2023）　実行委員

    2023 -

  • 第42回医療情報学連合大会　プログラム委員

    2022 -

  • 第4回日本メディカルAI学会学術集会　組織委員

    2022 -

  • 第10回生命医薬情報学連合大会（IIBMP 2021)　実行委員

    2021 -

  • 第9回生命医薬情報学連合大会（IIBMP 2020)　実行委員

    2020 -

  • 公益財団法人 放射線影響研究所　特別科学諮問委員

    2019/03 -

  • 第8回生命医薬情報学連合大会（IIBMP 2019)　実行委員

    2019 -

  • The Chem-Bio Informatics Society CBI Annual Meeting　Executive committee member

    2018 -

  • NGS現場の会第五回研究会　大会長

    2017 -

  • 第6回生命医薬情報学連合大会（IIBMP 2017)　実行委員

    2017 -

  • 第20回日本医療情報学会春季学術大会　プログラム委員

    2016 -

  • NGS現場の会第四回研究会　実行委員

    2015 -

  • 第19回日本医療情報学会春季学術大会　実行委員

    2015 -

  • 第3回生命医薬情報学連合大会（IIBMP 2014)　実行委員

    2014 -

  • NGS現場の会第二回研究会　実行委員

    2012 -

  • The Chem-Bio Informatics Society CBI Annual Meeting　Program committee member

    2012 -

  • 第1回生命医薬情報学連合大会（IIBMP 2012)　実行委員

    2012 -

  • Linked Open Data チャレンジ Japan 2011　実行委員

    2011 -

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Professional Memberships 5

  • Japan Open Bioinformatics Research Group

  • JAPAN ASSOCIATION FOR MEDICAL INFORMATICS

  • Japan Society for Omics-based Medicine

  • The Chem-Bio Informatics Society

  • JAPANESE SOCIETY FOR BIOINFORMATICS

Research Interests 4

  • Medical Informatics

  • Systems Biology

  • Translational Bioinformatics

  • Bioinformatics

Research Areas 3

  • Life sciences / Systems genomics /

  • Life sciences / Genomics /

  • Informatics / Biological, health, and medical informatics /

Awards 3

  1. 最優秀論文賞

    2017/09　情報処理学会DICOMO2017実行委員会　プライバシ保護ゲノム解析のための秘密計算フィッシャー正確検定の実装評価

  2. Japanese Society for Bioinformatics Prize 2012

    2012　Oxford Journals

  3. the Best Poster Award

    2011　Asia Pacific Bioinformatics Conference 2011

Papers 166

  1. Sex differences in the risk of autistic-related traits in toddlers born to mothers with perinatal depression: Evidence from human cohort and mouse study. International-journal Peer-reviewed

    Changrong Duan, Zhiqian Yu, Xue Li, Mai Sakai, Yuko Maejima, Kenju Shimomura, Tomoyuki Furuyashiki, Saya Kikuchi, Natsuko Kobayashi, Kazuto Sasaki, Tasuku Matsuki, Hiroshi Komatsu, Mizuki Hino, Yasuto Kunii, Tomoko Kasahara, Mami Ishikuro, Keiko Murakami, Masatsugu Orui, Takaaki Abe, Fuji Nagami, Nobuo Fuse, Soichi Ogishima, Kengo Kinoshita, Masayuki Yamamoto, Naoki Nakaya, Atsushi Hozawa, Taku Obara, Shinichi Kuriyama, Hiroaki Tomita

    Molecular psychiatry　2026/02/04

    DOI： 10.1038/s41380-026-03456-z 　

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    Maternal perinatal depression (MPD) is associated with reduced maternal plasma oxytocin (OXT) levels and an increased risk of autism spectrum disorder (ASD) in offspring. Using data from 23,218 Japanese mother-child pairs, we evaluated the relationship between MPD-assessed with the Kessler Psychological Distress Scale (K6) and the Edinburgh Postnatal Depression Scale (EPDS)-and autistic-related traits (ART) in toddlers, measured by the Tokyo Autistic Behavior Scale (TABS). We also tested the potential causal relationship of maternal stress exposure on OXT, its receptor (OXTR), and offspring outcomes using a prenatal stress-exposed mouse model. In the human cohort study, higher K6 or EPDS scores during pregnancy and postpartum were significantly associated with increased TABS scores in toddlers. Offspring of mothers with MPD (K6 or EPDS score ≥ 9) during pregnancy or postpartum exhibited a higher risk of ART (TABS score ≥ 15; P < 0.05). This risk was particularly pronounced in female toddlers exposed to MPD during pregnancy and postpartum (ORs: 5.805-9.367; P < 0.05). Female toddlers born to mothers with MPD also had lower birth weight, and their ART were positively correlated with K6 scores during mid-gestation and with impaired maternal bonding postpartum. In the mouse model, chronically stressed dams displayed depressive-like behaviors, and their female juveniles exhibited increased self-grooming and impaired social interaction. Furthermore, OXTR mRNA levels were significantly reduced in the prefrontal cortex of female juveniles from stressed dams. These findings suggest that MPD increases the risk of ART, particularly in females, highlighting potential sex-specific mechanisms underlying ASD susceptibility.

  2. Establishment and Operation of a New Style Clinical Biobank: The Tohoku University Clinical Biobank. Peer-reviewed

    Bin Li, Kazuki Kumada, Muneaki Shimada, Hidekazu Shirota, Hideki Tokunaga, Mio Yamaguchi-Tanaka, Chihiro Inoue, Yuto Yamazaki, Akihiro Yamamura, Toru Furukawa, Keigo Komine, Soichi Ogishima, Toru Tamahara, Sakae Saito, Ritsuko Shimizu, Masahiro Iikubo, Kensuke Yamauchi, Tomo Saito, Shin-Ichi Fujimaki, Yuko Abe, Naoki Nakamura, Hideki Ota, Fuji Nagami, Kengo Kinoshita, Toru Nakazawa, Hozumi Motohashi, Naoto Ishii, Chikashi Ishioka, Hideo Harigae, Teiji Tominaga, Nobuo Yaegashi, Masayuki Yamamoto

    The Tohoku journal of experimental medicine　2026/01/15

    DOI： 10.1620/tjem.2025.J152 　

  3. RareLink: scalable REDCap-based framework for rare disease interoperability linking international registries to FHIR and Phenopackets. International-journal Peer-reviewed

    Adam S L Graefe, Filip Rehburg, Samer Alkarkoukly, Daniel Danis, Ana Grönke, Miriam R Hübner, Alexander Bartschke, Thomas Debertshäuser, Sophie A I Klopfenstein, Julian Saß, Julia Fleck, Mirko Rehberg, Jana Zschüntzsch, Elisabeth F Nyoungui, Tatiana Kalashnikova, Luis Murguía-Favela, Beata Derfalvi, Nicola A M Wright, Shahida Moosa, Soichi Ogishima, Oliver Semler, Susanna Wiegand, Peter Kühnen, Christopher J Mungall, Melissa A Haendel, Peter N Robinson, Sylvia Thun, Oya Beyan

    NPJ genomic medicine　10　(1)　72-72　2025/11/18

    DOI： 10.1038/s41525-025-00534-z 　

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    While Research Electronic Data Capture (REDCap) is widely adopted in rare disease research, its unconstrained data format often lacks native interoperability with global health standards, limiting secondary use. We developed RareLink, an open-source framework implementing our published ontology-based rare disease common data model. It enables standardised data exchange between REDCap, international registries, and downstream analysis tools by linking Global Alliance for Genomics and Health Phenopackets and Health Level 7 Fast Healthcare Interoperability Resources (FHIR) instances conforming to International Patient Summary and Genomics Reporting profiles. RareLink was developed in three phases across Germany, Canada, South Africa, and Japan for registry and data analysis purposes. We defined a simulated Kabuki syndrome cohort and demonstrated data export to Phenopackets and FHIR. RareLink can enhance the clinical utility of REDCap through its global applicability, supporting equitable rare disease research. Broader adoption and coordination with international entities are thus essential to realise its full potential.

  4. Consistent performance of large language models in rare disease diagnosis across ten languages and 4917 cases. International-journal Peer-reviewed

    Leonardo Chimirri, J Harry Caufield, Yasemin Bridges, Nicolas Matentzoglu, Michael Gargano, Mario Cazalla, Shihan Chen, Daniel Danis, Alexander J M Dingemans, Klara Gehle, Petra Gehle, Adam S L Graefe, Weihong Gu, Markus S Ladewig, Pablo Lapunzina, Julián Nevado, Enock Niyonkuru, Soichi Ogishima, Dominik Seelow, Jair A Tenorio Castaño, Marek Turnovec, Bert B A de Vries, Kai Wang, Kyran Wissink, Zafer Yüksel, Gabriele Zucca, Melissa A Haendel, Christopher J Mungall, Justin Reese, Peter N Robinson

    EBioMedicine　121　105957-105957　2025/11

    DOI： 10.1016/j.ebiom.2025.105957 　

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    BACKGROUND: Large language models (LLMs) are increasingly used medicine for diverse applications including differential diagnostic support. The training data used to create LLMs such as the Generative Pretrained Transformer (GPT) predominantly consist of English-language texts, but LLMs could be used across the globe to support diagnostics if language barriers could be overcome. Initial pilot studies on the utility of LLMs for differential diagnosis in languages other than English have shown promise, but a large-scale assessment on the relative performance of these models in a variety of European and non-European languages on a comprehensive corpus of challenging rare-disease cases is lacking. METHODS: We created 4917 clinical vignettes using structured data captured with Human Phenotype Ontology (HPO) terms with the Global Alliance for Genomics and Health (GA4GH) Phenopacket Schema. These clinical vignettes span a total of 360 distinct genetic diseases with 2525 associated phenotypic features. We used translations of the Human Phenotype Ontology together with language-specific templates to generate prompts in English, Chinese, Czech, Dutch, French, German, Italian, Japanese, Spanish, and Turkish. We applied GPT-4o, version gpt-4o-2024-08-06, and the medically fine-tuned Meditron3-70B to the task of delivering a ranked differential diagnosis using a zero-shot prompt. An ontology-based approach with the Mondo disease ontology was used to map synonyms and to map disease subtypes to clinical diagnoses in order to automate evaluation of LLM responses. FINDINGS: For English, GPT-4o placed the correct diagnosis at the first rank 19.9% and within the top-3 ranks 27.0% of the time. In comparison, for the nine non-English languages tested here the correct diagnosis was placed at rank 1 between 16.9% and 20.6%, within top-3 between 25.4% and 28.6% of cases. The Meditron3 model placed the correct diagnosis within the first 3 ranks for 20.9% of cases in English and between 19.9% and 24.0% for the other nine languages. INTERPRETATION: The differential diagnostic performance of LLMs across a comprehensive corpus of rare-disease cases was largely consistent across the ten languages tested. This suggests that the utility of LLMs in clinical settings may extend to non-English clinical settings. FUNDING: NHGRI 5U24HG011449, 5RM1HG010860, R01HD103805 and R24OD011883. P.N.R. was supported by a Professorship of the Alexander von Humboldt Foundation; P.L. was supported by a National Grant (PMP21/00063 ONTOPREC-ISCIII, Fondos FEDER). C.M., J.R. and J.H.C. were supported in part by the Director, Office of Science, Office of Basic Energy Sciences, of the US Department of Energy (Contract No. DE-AC0205CH11231).

  5. Household income modifies the association between social capital and gestational diabetes mellitus in Japan: Results from TMM BirThree Cohort Study. Peer-reviewed

    Koichi Sakakibara, Tomoki Kawahara, Nobutoshi Nawa, Keiko Murakami, Hisashi Ohseto, Ippei Takahashi, Akira Narita, Taku Obara, Mami Ishikuro, Masatsugu Orui, Aoi Noda, Genki Shinoda, Satoshi Nagaie, Soichi Ogishima, Junichi Sugawara, Shigeo Kure, Kengo Kinoshita, Atsushi Hozawa, Nobuo Fuse, Gen Tamiya, Wendy L Bennett, Shinichi Kuriyama, Takeo Fujiwara, Pamela J Surkan

    Journal of diabetes investigation　16　(10)　1900-1909　2025/10/16

    DOI： 10.1111/jdi.70101 　

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    INTRODUCTION: While social capital can prevent diabetes, these benefits can be heterogeneous with respect to socioeconomic status. We investigated the association between social capital and gestational diabetes mellitus (GDM) while examining effect modification by household income. MATERIALS AND METHODS: We conducted a secondary data analysis using the Tohoku Medical Megabank Project Birth and Three-Generation Cohort Study carried out between July 2013 and March 2017. Social capital (mutual aid, social trust, informal social control, collective action) and covariates were self-reported, while GDM diagnosis and other medical and physiological information were obtained from medical records. To assess the association between social capital and GDM, we conducted logistic regression models. We further tested for interactions between social capital and household income as well as stratified the models by income. RESULTS: Among 20,339 study participants, 700 (3.4%) were diagnosed with GDM. Multivariable logistic regression models found that social trust and collective action were associated with lower GDM prevalence, even after adjustment of covariates. When stratifying household income, however, social capital was significantly associated with the reduced risks of GDM only among participants with higher household income (OR: 0.90, 95% CI: 0.85-0.97). No significant association was observed among those with lower household income. CONCLUSIONS: The health benefit of social capital on GDM prevalence was heterogeneous, and the protective effect of social capital on GDM was found only among women with higher household income. The differential impact of social capital on GDM highlights the need for targeted interventions addressing structural health inequities.

  6. Effect of healthy lifestyle on renal dysfunction risk: interactions with genetic risk. International-journal Peer-reviewed

    Masato Takase, Naoki Nakaya, Mana Kogure, Rieko Hatanaka, Kumi Nakaya, Ippei Chiba, Sayuri Tokioka, Kotaro Nochioka, Tomohiro Nakamura, Naho Tsuchiya, Takumi Hirata, Ikumi Kanno, Akira Narita, Taku Obara, Mami Ishikuro, Hisashi Ohseto, Ippei Takahashi, Akira Uruno, Tomoko Kobayashi, Eiichi N Kodama, Yohei Hamanaka, Masatsugu Orui, Soichi Ogishima, Satoshi Nagaie, Nobuo Fuse, Junichi Sugawara, Shinichi Kuriyama, Koichi Matsuda, Yoko Izumi, Kengo Kinoshita, Gen Tamiya, Atsushi Hozawa, Masayuki Yamamoto

    Clinical kidney journal　18　(10)　sfaf275　2025/10

    DOI： 10.1093/ckj/sfaf275 　

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    BACKGROUND: Whether adherence to a healthy lifestyle can mitigate genetic risk for renal dysfunction remains unclear. METHODS: This prospective cohort study included 12 680 adults aged ≥20 years, free from chronic kidney disease at baseline, enrolled in the Tohoku Medical Megabank Community-based Cohort study. A healthy lifestyle score-based on normal weight, never smoking, never drinking, regular physical activity, and a low urinary sodium-to-potassium ratio-classified participants into ideal, intermediate, or poor lifestyle groups. A polygenic risk score (PRS) was constructed using estimated glomerular filtration rate (eGFR) data from a previous multi-ancestry genome-wide association meta-analysis. The primary outcome was renal dysfunction, defined as eGFR <60.0 ml/min/1.73 m2. RESULTS: Among the 12 680 adults, 123 participants (0.9%) developed renal dysfunction during a mean follow-up of 4.4 ± 0.8 years. Poor lifestyle was consistently associated with higher risk of renal dysfunction across most PRS categories. Participants with intermediate genetic risk had elevated risk only when also exhibiting an intermediate lifestyle. Formal testing for effect modification by PRS provided modest evidence that the association between high genetic risk and increased risk of renal dysfunction was stronger among individuals with an intermediate lifestyle. Although the addition of the PRS to the model included the C-statistic, this improvement was not statistically significant. CONCLUSIONS: Maintaining a healthy lifestyle is associated with lower risk of renal dysfunction, regardless of genetic risk. Combining PRSs with lifestyle information may enhance risk stratification, although further studies are needed to improve predictive accuracy.

  7. Associations of family history of hypertension, genetic, and lifestyle risks with incident hypertension. International-journal Peer-reviewed

    Masato Takase, Takumi Hirata, Naoki Nakaya, Mana Kogure, Rieko Hatanaka, Kumi Nakaya, Ippei Chiba, Sayuri Tokioka, Kotaro Nochioka, Tomohiro Nakamura, Naho Tsuchiya, Hirohito Metoki, Michihiro Satoh, Akira Narita, Taku Obara, Mami Ishikuro, Hisashi Ohseto, Ippei Takahashi, Tomoko Kobayashi, Eiichi N Kodama, Yohei Hamanaka, Masatsugu Orui, Soichi Ogishima, Satoshi Nagaie, Nobuo Fuse, Junichi Sugawara, Shinichi Kuriyama, Gen Tamiya, Atsushi Hozawa, Masayuki Yamamoto

    Hypertension research : official journal of the Japanese Society of Hypertension　48　(10)　2606-2617　2025/10

    DOI： 10.1038/s41440-025-02314-9 　

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    Family history of hypertension may reflect genetic and lifestyle factors. Genetic risk can be assessed using polygenic risk score (PRS); however, whether PRS can stratify hypertension risk when combined with family history and lifestyle information is unclear. This prospective cohort study included 9,001 hypertension-free individuals aged ≥20 years from the Tohoku Medical Megabank Community-Based Cohort Study. Participants were scored on lifestyle factors, including body mass index, urinary sodium-to-potassium ratio, physical activity, alcohol consumption, and smoking at recruitment. During the mean follow-up of 4.3 years, 2822 (31.4%) cases of hypertension occurred. High genetic risk and poor lifestyle were associated with increased hypertension risk. Compared with participants with low genetic risk, ideal lifestyle, and no family history, high genetic risk significantly increased hypertension risk, even among those with ideal lifestyle and no family history (relative risk [RR] 1.28 [95% confidence interval [CI] 1.11-1.46]). Participants with low PRS, ideal lifestyle, but with family history had increased hypertension risk (RR 1.32 [95%CI 1.11-1.57]). Poor lifestyle increased hypertension risk across most genetic risk groups, regardless of family history. Integrating PRS into models with family history and lifestyle risk significantly improved predictive accuracy (area under the curve: 0.671 for family history and lifestyle risk and 0.674 for PRS integrated; P for difference <0.05). Integrating PRS with lifestyle and family history enhances the stratification of individuals at high risk for hypertension.

  8. Exploring risk factors for axial length elongation: a population-based cohort study of 9195 eyes in Japan. International-journal Peer-reviewed

    Takayuki Nishimura, Hiroshi Kunikata, Naoko Takada, Makoto Ishikawa, Sayuri Tokioka, Rieko Hatanaka, Mana Kogure, Ippei Chiba, Kumi Nakaya, Taku Obara, Yoko Izumi, Akira Uruno, Satoshi Nagaie, Soichi Ogishima, Naoki Nakaya, Shinichi Kuriyama, Atsushi Hozawa, Nobuo Fuse, Toru Nakazawa

    The British journal of ophthalmology　2025/09/15

    DOI： 10.1136/bjo-2025-327213 　

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    PURPOSE: To investigate long-term axial length (AL) changes in adults and to identify risk factors contributing to excessive AL elongation, which is associated with high myopia, we analysed a large dataset of adults without ocular pathology from the Tohoku Medical Megabank Project Community-based Cohort Study in Japan. METHODS: We conducted a longitudinal investigation of 9195 participants aged ≥20 years with several years of follow-up (mean 3.5 years). Based on the upper quartile of AL elongation for people aged in their 20s, we defined AL elongation exceeding 0.033 mm per year as high AL elongation (HALE). We used multiple logistic regression analyses to assess potential risk factors for HALE. RESULTS: A longitudinal investigation revealed that AL can fluctuate and even become elongated during adulthood, particularly among middle-aged and older individuals. Notably, HALE occurred in 618 out of 9195 eyes (6.7%). The proportion in each age group, comprising people aged in their 20s, 30s, 40s, 50s, 60s, 70s and 80s, was 24.7%, 12.7%, 9.4%, 5.2%, 4.5%, 4.0% and 1.4%, respectively. In addition, we also observed that younger age (OR 1.45 per 10 years older), female gender (OR 1.63), high myopia (OR 2.74) and serum immunoglobulin E (IgE) levels >171 IU/mL (OR 1.27) were associated with HALE. CONCLUSION: Findings from a large prospective cohort study confirmed that in Japanese individuals, HALE was significantly associated with high serum IgE levels, as well as with younger age, female gender and pre-existing high myopia.

  9. Study Profile of the Iwate PGS Assessment and Risk Communication (PARC) Study. Peer-reviewed

    Akiko Yoshida, Tomoharu Tokutomi, Nobuhiro Suzumori, Akimune Fukushima, Yukiko Toya, Hideki Ohmomo, Kozo Tanno, Yoichi Sutoh, Yuka Kotozaki, Tsuyoshi Hachiya, Kazuki Kumada, Hisaaki Kudo, Atsushi Hasegawa, Mika Sakurai-Yageta, Akira Narita, Yohei Hamanaka, Satoshi Nagaie, Soichi Ogishima, Fuji Nagami, Yayoi Otsuka-Yamasaki, Shohei Komaki, Shiori Minabe, Koichi Asahi, Ryujin Endo, Yasushi Ishigaki, Masayuki Yamamoto, Atsushi Shimizu, Makoto Sasaki

    Journal of epidemiology　2025/09/06

    DOI： 10.2188/jea.JE20250078 　

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    BACKGROUND: The potential impacts of polygenic scores (PGS) on health-behavior changes are not fully understood. The Iwate PGS Assessment and Risk Communication Study aims to investigate the effects of reporting PGS-based risk for ischemic stroke on health behaviors. METHODS: Participants wishing to know their PGS-based ischemic stroke risk were recruited from health checkup venues for workers in Iwate Prefecture in 2023. Health checkup data, biospecimens, and questionnaire responses were collected for biochemical testing, genotyping, and storage in the Tohoku Medical Megabank integrated biobank. The risk was calculated using an integrative PGS model for East Asians. Participants were randomly assigned to two groups, and one group received their risk report as the intervention group. The impacts of the risk notification will be investigated in follow-up surveys. RESULTS: Of 3,599 workers, 2,088 participated in the study (consent rate, 58.0%). The demographic profile of the eligible 2,083 participants was as follows: 80.7% males, and dominance of participants aged 18-29 years (25.2%), in their 30's (25.3%), and in their 40's (24.7%). Two hundred participants (9.7%) had a risk of 1.0 as the reference; 57 (2.7%), 927 (44.7%), and 888 (42.9%) participants had 2.1-3.4-, 1.4-1.9-, and <1.0-fold that risk, respectively. CONCLUSION: We collected health information and biospecimens from over 2,000 workers, and disclosed the PGS-based ischemic stroke risk. Behavioral effects will be evaluated 1 year after disclosure, with follow-up until 2030. As Japan's first large-scale PGS risk communication study, it will provide initial insights for implementing PGS in personalized preventive medicine.

  10. Cohort Profile Update: The Tohoku Medical Megabank Project Birth and Three-Generation Cohort Study (TMM BirThree Cohort Study) 2023 update. International-journal Peer-reviewed

    Taku Obara, Mami Ishikuro, Aoi Noda, Keiko Murakami, Masatsugu Orui, Genki Shinoda, Fumihiko Ueno, Fumiko Matsuzaki, Tomomi Onuma, Hiroko Matsubara, Hirohito Metoki, Masahiro Kikuya, Rieko Hatanaka, Ippei Chiba, Kumi Nakaya, Mana Kogure, Naoki Nakaya, Junichi Sugawara, Shigeo Kure, Mika Kobayashi, Tomoko Kobayashi, Yoichi Suzuki, Hiroshi Kawame, Mika Sakurai-Yageta, Sachiko Nagase, Naoki Nakamura, Tomohiro Nakamura, Satoshi Mizuno, Satoshi Nagaie, Soichi Ogishima, Akira Narita, Gen Tamiya, Sachie Koreeda, Fuji Nagami, Toru Tamahara, Maki Goto, Akihito Otsuki, Makiko Taira, Takanori Hidaka, Junko Kawashima, Eiichi N Kodama, Akira Uruno, Yohei Hamanaka, Hiroaki Tomita, Hiroaki Hashizume, Kenichi Noguchi, Fumiki Katsuoka, Seizo Koshiba, Kazuki Kumada, Takahiro Nobukuni, Kinuko Ohneda, Shunji Mugikura, Ritsuko Shimizu, Masataka Kambe, Yoshinobu Saito, Tadao Kobayashi, Yoko Izumi, Kengo Kinoshita, Nobuo Fuse, Nobuo Yaegashi, Atsushi Hozawa, Masayuki Yamamoto, Shinichi Kuriyama

    International journal of epidemiology　54　(5)　2025/09

    DOI： 10.1093/ije/dyaf148 　

  11. Autoantibodies against endothelial protein C receptor and integrin αvβ6 predict the development of ulcerative colitis. Peer-reviewed

    Motoi Sawahashi, Yoichi Kakuta, Takeo Naito, Soshi Okazaki, Kinuko Ohneda, Masatsugu Orui, Taku Obara, Soichi Ogishima, Kazuki Kumada, Hisaaki Kudo, Fuji Nagami, Atsushi Hozawa, Hideya Iwaki, Hiroshi Nagai, Yusuke Shimoyama, Rintaro Moroi, Hisashi Shiga, Yoshitaka Kinouchi, Tsuyoshi Shirai, Hiroshi Fujii, Atsushi Masamune

    Journal of gastroenterology　60　(9)　1108-1117　2025/09

    DOI： 10.1007/s00535-025-02263-7 　

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    BACKGROUND: A method for predicting ulcerative colitis (UC) onset has not been established. Serum autoantibodies have been suggested as potential predictive biomarkers for UC onset. We aimed to validate the risks associated with serological and environmental factors and construct a model for predicting UC development. METHODS: Using the population-based cohort studies (n > 83,000), we identified 42 individuals who were diagnosed with UC later in life and compared them with matched healthy controls. We analyzed serum anti-integrin αvβ6 antibody (anti-αvβ6) and anti-endothelial protein C receptor antibody (anti-EPCR) titers, and lifestyle and dietary habits to explore UC onset predictors. The predictive performance of the models was evaluated based on these predictors. RESULTS: The sensitivity and specificity of anti-EPCR for predicting UC onset were 51.4% and 97.8%, respectively, comparable to those of anti-αvβ6 (52.5% and 97.6%, respectively). The proportion of individuals with insomnia was significantly higher in the preclinical UC group (adjusted odds ratio = 2.14, 95% confidence interval [CI] 1.11-4.04, p = 0.019). The predictive performance of anti-EPCR alone was high with an area under the curve (AUC) of 0.89 (95%CI 0.83-0.96), and that of anti-EPCR combined with anti-αvβ6 was even better with an AUC of 0.92 (95%CI 0.87-0.97); the lifestyle model had lower predictive accuracy (AUC = 0.65, 95%CI 0.55-0.74). CONCLUSIONS: Anti-EPCR and anti-αvβ6 each strongly predict UC onset. The combined anti-EPCR and anti-αvβ6 model had stronger predictive performance than the single models.

  12. Sex difference of genetic risk in the prevalence of atrial fibrillation. International-journal Peer-reviewed

    Sayuri Tokioka, Masato Takase, Naoki Nakaya, Rieko Hatanaka, Kumi Nakaya, Mana Kogure, Ippei Chiba, Kotaro Nochioka, Hirohito Metoki, Tomohiro Nakamura, Mami Ishikuro, Taku Obara, Yohei Hamanaka, Masatsugu Orui, Tomoko Kobayashi, Akira Uruno, Eiichi N Kodama, Satoshi Nagaie, Soichi Ogishima, Yoko Izumi, Gen Tamiya, Nobuo Fuse, Shinichi Kuriyama, Satoshi Yasuda, Atsushi Hozawa

    Heart rhythm　22　(9)　e631-e639　2025/09

    DOI： 10.1016/j.hrthm.2025.03.1974 　

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    BACKGROUND: Early detection and management of atrial fibrillation (AF) are crucial. Combined models incorporating genetic risks and clinical risks have been developed to improve predictive ability. Although sex differences have been reported in many aspects of AF, sex differences in genetic risk have not been studied. OBJECTIVE: To assess the sex difference in the effect of AF-PRS on AF prevalence using cross-sectional data from the Tohoku Medical Megabank Project Community-Based Cohort Study in Japan. METHODS: Polygenic risk score for AF (AF-PRS) and Cohorts for Heart and Aging Research in Genomic Epidemiology AF (CHARGE-AF) score were used for genetic AF risks and clinical AF risks, respectively. Sex differences in the association of AF-PRS with the prevalence of AF were evaluated. RESULTS: Among 16,853 participants (mean age, 63.4 years and 30.7% men), the prevalence of AF was 4.9% in men and 1.1% in women. In the group with high AF-PRS and high CHARGE-AF score, the odds ratio for AF was highest in men and women (8.2 in men and 9.4 in women), compared to that in the group with low AF-PRS and low CHARGE-AF score. Integrating AF-PRS into the CHARGE-AF score significantly enhanced the area under the curve of receiver operating characteristic for AF in men (from 0.639 to 0.749) but not in women (from 0.710 to 0.733). CONCLUSION: Our study is the first to show a sex difference in the association of AF-PRS and AF prevalence. AF-PRS is more closely associated with the prevalence of AF in men than in women.

  13. Association of circulating metabolites and polygenic risk score with incident type 2 diabetes: a prospective community-based cohort study. International-journal Peer-reviewed

    Masato Takase, Naoki Nakaya, Mana Kogure, Rieko Hatanaka, Kumi Nakaya, Ippei Chiba, Sayuri Tokioka, Kotaro Nochioka, Tomohiro Nakamura, Naho Tsuchiya, Takumi Hirata, Seizo Koshiba, Kazuki Kumada, Ikuko Motoike, Eiji Hishinuma, Akira Narita, Taku Obara, Mami Ishikuro, Hisashi Ohseto, Ippei Takahashi, Tomoko Kobayashi, Eiichi N Kodama, Yohei Hamanaka, Masatsugu Orui, Soichi Ogishima, Satoshi Nagaie, Nobuo Fuse, Junichi Sugawara, Shinichi Kuriyama, Koichi Matsuda, Yoko Izumi, Kinuko Ohneda, Kengo Kinoshita, Atsushi Hozawa, Masayuki Yamamoto

    Cardiovascular diabetology　24　(1)　335-335　2025/08/14

    DOI： 10.1186/s12933-025-02849-8 　

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    BACKGROUND: No previous studies have explored metabolites associated with both genetic predispositions to type 2 diabetes (T2DM) and T2DM onset. Therefore, we aimed to explore metabolic profiles using genetic risk to identify pathways for tailored T2DM prevention strategies. METHODS: This prospective community-based cohort study in Japan included a total of 12,461 participants aged ≥ 20 years. Genetic predictors were genome-wide and pathway-based polygenic risk scores (PRSs). We quantified 43 metabolites using nuclear magnetic resonance spectroscopy. T2DM was defined as a non-fasting glucose level of ≥ 200 mg/dL, glycated hemoglobin level ≥ 6.5%, or self-reported T2DM treatment. A modified Poisson regression model was used to examine the associations of PRSs and metabolites with T2DM incidence. Linear associations were tested using the restricted cubic spline, and mediation analysis was conducted to assess the mediating effect of metabolites on the association between PRSs and T2DM incidence. RESULTS: During the 4.3-year median follow-up period, 354 T2DM cases were identified. A higher PRS was associated with incident T2DM (relative risk [RR] 2.09, 95% confidence interval [CI], 1.68-2.60, P < 0.001, 1-standard deviation [SD] increment). The nitrogen compound transport pathway PRS was associated with incident T2DM (RR 1.32, 95% CI 1.03-1.70, P < 0.001, 1-SD increment). Fourteen metabolites like glucose, 2-ketoisocaproic acid, glutamic acid, leucine, 2-aminobutyric acid, 2-hydroxybutyric acid, valine, 3-methyl-2-oxobutyric acid, alanine, 3-hydroxybutyric acid, 3-methyl-2-oxiovaleric acid, formic acid, arginine, and tyrosine were positively associated with the risk of T2DM. Only glycine was inversely associated with the risk of T2DM. Among 43 metabolites, 14 metabolites were positively associated with PRS (P for linear trend < 0.05). 3-hydroxyisobutyric-acid, 2-Aminobutyric acid, 2-ketoisocaproic acid, 2-hydroxybutyric acid, leucine, glycine, and glucose mediated the association between PRS and incident T2DM. CONCLUSIONS: Several metabolites were found to mediate the association between PRS and incident T2DM. These findings may contribute to a better understanding of the metabolic pathways involved in genetic susceptibility to T2DM.

  14. Development of AI Models for Early Prediction of Preterm Birth. International-journal Peer-reviewed

    Satoshi Mizuno, Satoshi Nagaie, Gen Tamiya, Shinichi Kuriyama, Taku Obara, Mami Ishikuro, Hiroshi Tanaka, Kengo Kinoshita, Junichi Sugawara, Masayuki Yamamoto, Nobuo Yaegashi, Masatoshi Saito, Soichi Ogishima

    Studies in health technology and informatics　329　1932-1933　2025/08/07

    DOI： 10.3233/SHTI251285 　

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    Preterm birth is one of the most important neonatal complications. In this study, we aimed to establish an artificial intelligence model for early prediction of preterm birth. Based on genetic and lifestyle data from over 20,000 neonates, we developed high-performed early prediction models up to 0.92 of AUC. Our developed models will help early prediction and appropriate intervention of preterm birth.

  15. Unraveling the Trajectories from Health to Disease Onset Using Health Checkup Data. International-journal Peer-reviewed

    Satoshi Nagaie, Satoshi Mizuno, Soichi Ogishima

    Studies in health technology and informatics　329　1934-1935　2025/08/07

    DOI： 10.3233/SHTI251286 　

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    Personalized prevention based on individual health data is vital in modern healthcare. We analyzed four years of checkup data from 96,093 individuals (20-74 years) to map transitions from healthy states to mibyo (pre-disease) and disease onset. Using dimensionality reduction and clustering, we identified 43 male and 33 female health status clusters, revealing distinct transition trajectories that inform targeted preventive strategies.

  16. Comparison of genotypes and phenotypes for von Willebrand factor gene variants using Japanese genome database. International-journal Peer-reviewed

    Takafumi Akimoto, Hiroshi Inaba, Soichi Ogishima, Kazuki Kumada, Ayano Mitsuhashi, Ryui Miyashita, Tomoko Yamaguchi, Masato Bingo, Yushi Chikasawa, Keiko Shinozawa, Takeshi Hagiwara, Kagehiro Amano, Eiichi N Kodama, Ei Kinai

    Blood vessels, thrombosis & hemostasis　2　(3)　100070-100070　2025/08

    DOI： 10.1016/j.bvth.2025.100070 　

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    von Willebrand disease (VWD) is a common inherited bleeding disorder. The aim of this study was to determine the predicted disease states associated with various pathogenic von Willebrand factor (VWF) variants and their phenotypes using the largest Japanese whole-genome database. Of the 5857 VWF gene variants registered in the Japanese Multi-Omics Reference Panel (jMorp), variants with the following criteria were extracted: (1) caused protein abnormalities due to genetic alterations; (2) have already been detected and included in a database, including known association with VWD; and (3) highly likely pathogenic by in silico analysis. We measured VWF activity, antigen, propeptide, and collagen binding activity in stored plasma samples obtained from heterozygous carriers of the selected variants. A total of 29 VWF variants (26 single nucleotide and 3 small insertions/deletions) were detected, and 6 of these were found in Leiden Open Mutation Database. We obtained 43 plasma samples from individuals carrying these 29 variants as heterozygous. For the 43 variant carriers, their mean age was 43.0 years, and blood group was type O in 17 (39.5%). Analysis of these plasma samples showed low VWF levels (<50%) in 6 (14.0%). Low VWF levels were found in 2 of 8 of the nonsense (25%) and 4 of 31 of the missense variants (12.9%). Taking into consideration the limitation of using stored plasma samples, analysis of the jMorp indicated that most VWF gene variants with predicted pathogenic potential did not correlate with phenotypic expression. Our results supported incomplete penetrance and variable expressivity of the VWF gene variants.

  17. Exploring the association between human breast milk lipids and early adiposity rebound in children: A case-control study. International-journal Peer-reviewed

    Kento Sawane, Ippei Takahashi, Mami Ishikuro, Hiroko Takumi, Masatsugu Orui, Aoi Noda, Genki Shinoda, Hisashi Ohseto, Tomomi Onuma, Fumihiko Ueno, Keiko Murakami, Naoko Higuchi, Takashi Furuyashiki, Tomohiro Nakamura, Seizo Koshiba, Kinuko Ohneda, Kazuki Kumada, Soichi Ogishima, Atsushi Hozawa, Junichi Sugawara, Shinichi Kuriyama, Taku Obara

    Nutrition (Burbank, Los Angeles County, Calif.)　135　112739-112739　2025/07

    DOI： 10.1016/j.nut.2025.112739 　

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    OBJECTIVES: Adiposity rebound (AR) corresponds to the start of the second rise in the body mass index curve during infant growth. Early AR (before age 5) confers increased risk of adiposity and metabolic disorders but is less likely to occur in breastfed infants. Although lipids in breast milk are important in child growth, information is limited regarding which lipids are involved in AR. The object of this study was to explore the association between breast milk lipids and AR status in children. METHODS: We designed a case-control study of 184 mother-child pairs (AR cases: n = 93; controls: n = 91) included from the Tohoku Medical Megabank Project Birth and Three-Generation Cohort Study. Breast milk was collected 1 month postpartum and comprehensive lipid analysis was performed. Partial least square-discriminant analysis was used to explore candidate lipids, and multivariable logistic regression analysis was used to evaluate associations with the AR status of children. RESULTS: We detected 667 lipid molecules in 12 lipid classes in breast milk. Partial least square-discriminant analysis revealed the association of fatty acid-hydroxy fatty acid (FAHFA) and cholesterol ester (ChE) with AR status. Multivariable logistic regression analysis showed that in pairs with exclusive breastfeeding at 1 month postpartum, FAHFA (odds ratio 1.57 [95% confidence interval, 1.06-2.32]) was positively associated with early AR, and ChE (odds ratio 0.55 [95% confidence interval, 0.36-0.86]) was negatively associated. CONCLUSIONS: Breast milk lipids (FAHFA, ChE) associated with the AR status of children, indicating the potential to regulate a child's adiposity and possible metabolic disorders in adulthood.

  18. Transforming Biobanking with AI: Perspectives from Leading Experts. International-journal Peer-reviewed

    Ahmed Samir Abdelhafiz, Marianne K Henderson, Zisis Kozlakidis, Imon Banerjee, Gouri Mahajan, Weiye Charles Wang, Gregory H Grossman, Soichi Ogishima, Philip Quinlan

    Biopreservation and biobanking　2025/06/19

    DOI： 10.1089/bio.2025.0101 　

  19. Association Between Sodium- and Potassium-Related Urinary Markers and the Prevalence of Atrial Fibrillation. Peer-reviewed

    Sayuri Tokioka, Naoki Nakaya, Rieko Hatanaka, Kumi Nakaya, Mana Kogure, Ippei Chiba, Masato Takase, Kotaro Nochioka, Kai Susukita, Hirohito Metoki, Tomohiro Nakamura, Mami Ishikuro, Taku Obara, Yohei Hamanaka, Masatsugu Orui, Tomoko Kobayashi, Akira Uruno, Eiichi N Kodama, Satoshi Nagaie, Soichi Ogishima, Yoko Izumi, Nobuo Fuse, Shinichi Kuriyama, Satoshi Yasuda, Atsushi Hozawa

    Circulation journal　89　(6)　757-764　2025/05/23

    DOI： 10.1253/circj.CJ-24-0780 　

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    BACKGROUND: The primary prevention of atrial fibrillation (AF), which increases mortality through complications including stroke and heart failure, is important. Excessive salt intake and low potassium intake are risk factors for cardiovascular disease; however, their association with AF remains inconclusive. This study investigated the association between sodium- and potassium-related urinary markers and AF prevalence. METHODS AND RESULTS: Data from the Tohoku Medical Megabank Project Community-based Cohort Study were used in this cross-sectional study. The urinary sodium-to-potassium (Na/K) ratio and estimated 24-h sodium and potassium excretion were calculated using spot urine samples and categorized into quartiles (Q1-Q4). The prevalence of AF was the primary outcome. Of the 26,506 participants (mean age 64.8 years; 33.2% males) included in this study, 630 (2.4%) had AF. Using Q1 as the reference group, the odds ratios for AF prevalence in Q4 were 1.35 (95% confidence interval [CI] 1.07-1.73) and 1.59 (95% CI 1.20-2.12) for 24-h estimated urinary Na/K ratio and estimated 24-h sodium excretion, respectively. Estimated 24-h potassium excretion was not associated with AF prevalence. CONCLUSIONS: AF prevalence was positively associated with the urinary Na/K ratio and estimated 24-h urinary sodium excretion, but not with estimated 24-h urinary potassium excretion. Although further prospective studies are warranted, the findings of this study suggest that salt intake may be a modifiable risk factor for AF.

  20. Integration of Digital Phenotyping and Genomics for Dry Eye Disease: Protocol for a Prospective Cohort Study. International-journal Peer-reviewed

    Ken Nagino, Yasutsugu Akasaki, Nobuo Fuse, Soichi Ogishima, Atsushi Shimizu, Akira Uruno, Yoichi Sutoh, Yayoi Otsuka-Yamasaki, Fuji Nagami, Jun Seita, Tomohiro Nakamura, Satoshi Nagaie, Makiko Taira, Tomoko Kobayashi, Ritsuko Shimizu, Atsushi Hozawa, Shinichi Kuriyama, Atsuko Eguchi, Akie Midorikawa-Inomata, Masahiro Nakamura, Akira Murakami, Shintaro Nakao, Takenori Inomata

    JMIR research protocols　14　e67862　2025/05/12

    DOI： 10.2196/67862 　

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    BACKGROUND: Dry eye disease (DED) is a common ocular condition with diverse and heterogeneous symptoms. Current treatment standards of DED include the post facto management of associated symptoms through topical eye drops. However, there is a need for predictive, preventive, personalized, and participatory medicine. The DryEyeRhythm mobile health app enables real-time data collection on environmental, lifestyle, host, and digital factors in a patient's daily environment. Combining these data with genetic information from biobanks could enhance our understanding of individual variations and facilitate the development of personalized treatment strategies for DED. OBJECTIVE: This study aims to integrate digital data from the DryEyeRhythm smartphone app with the Tohoku Medical Megabank database to create a comprehensive database that elucidates the interplay between multifactorial factors and the onset and progression of DED. METHODS: This prospective observational cohort study will include 1200 participants for the discovery stage and 1000 participants for the replication stage, all of whom have data available in the Tohoku Medical Megabank database. Participants will be recruited from the Community Support Center of Sendai, Miyagi Prefecture, Japan. Participant enrollment for the discovery stage was conducted from August 1, 2021, to June 30, 2022, and the replication stage will be conducted from August 31, 2024, to March 31, 2026. Participants will provide demographic data, medical history, lifestyle information, DED symptoms, and maximum blink interval measurements at baseline and after 30 days using the DryEyeRhythm smartphone app. Upon scanning a registration code, each participant's cohort ID from the Tohoku Medical Megabank database will be linked to their smartphone app, enabling data integration between the Tohoku Medical Megabank and DryEyeRhythm database. The primary outcome will assess the association between genetic polymorphisms and DED using a genome-wide association study. Secondary outcomes will explore associations between DED and various factors, including sociodemographic characteristics, lifestyle habits, medical history, biospecimen analyses (eg, blood and urine), and physiological measurements (eg, height, weight, and eye examination results). Associations will be evaluated using logistic regression analysis, adjusting for potential confounding factors. RESULTS: The discovery stage of participant enrollment was conducted from August 1, 2021, to June 30, 2022. The replication stage will take place from August 31, 2024, to March 31, 2026. Data analysis is expected to be completed by September 2026, with results reported by March 2027. CONCLUSIONS: This study highlights the potential of smartphone apps in advancing biobank research and deepening the understanding of multifactorial DED, paving the way for personalized treatment strategies in the future. INTERNATIONAL REGISTERED REPORT IDENTIFIER (IRRID): DERR1-10.2196/67862.

  21. Linking international registries to FHIR and Phenopackets with RareLink: a scalable REDCap-based framework for rare disease data interoperability. International-journal Peer-reviewed

    Adam S L Graefe, Filip Rehburg, Samer Alkarkoukly, Daniel Danis, Ana Grönke, Miriam R Hübner, Alexander Bartschke, Thomas Debertshäuser, Sophie A I Klopfenstein, Julian Saß, Julia Fleck, Mirko Rehberg, Jana Zschüntzsch, Elisabeth F Nyoungui, Tatiana Kalashnikova, Luis Murguía-Favela, Beata Derfalvi, Nicola A M Wright, Shahida Moosa, Soichi Ogishima, Oliver Semler, Susanna Wiegand, Peter Kühnen, Christopher J Mungall, Melissa A Haendel, Peter N Robinson, Sylvia Thun, Oya Beyan

    medRxiv : the preprint server for health sciences　2025/05/11

    DOI： 10.1101/2025.05.09.25327342 　

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    While Research Electronic Data Capture (REDCap) has been widely adopted in rare disease research, its unconstrained data format often leads to implementations that lack native interoperability with global health data standards, limiting secondary data use. To address this, we developed and validated RareLink, an open-source framework implementing our previously-published ontology-based rare disease common data model, enabling standardised data exchange between REDCap, international registries, and downstream analysis tools. Its preconfigured pipelines interact with the local REDCap application programming interface and enable semi-automatic import or export of data to the Global Alliance for Genomics and Health (GA4GH) Phenopackets and Health Level 7 (HL7) Fast Healthcare Interoperability Resources (FHIR) instances, conforming to the HL7 International Patient Summary and Genomics Reporting profiles. The framework was developed in three iterative phases using retrospective and prospective clinical data from patients with various rare metabolic and neuromuscular disorders, as well as inborn errors of immunity. Phase one involved deployment across four German university hospitals for registry and data analysis purposes. Phase two integrated RareLink with the Canadian Inborn Errors of Immunity National Registry, enhancing extensibility. Phase three focuses on international implementation in South Africa and Japan to assess global scalability. Implementation feedback was continuously incorporated to validate outputs and improve usability. For evaluation purposes, we defined a simulated Kabuki syndrome cohort based on published cases and demonstrated data export to both Phenopackets and FHIR instances. RareLink can enhance the clinical utility of REDCap by enabling structured data analysis and interoperability. Its global applicability and open-source nature can support equitable rare disease research with the ultimate goal to improve patient care. Broader adoption and coordination with entities such as HL7 and the European Reference Networks are thus essential to realise its full potential. The framework and its documentation are freely available through GitHub and Read the Docs, respectively.

  22. Genetic effects on gestational diabetes mellitus and their interactions with environmental factors among Japanese women. International-journal Peer-reviewed

    Tomoki Kawahara, Nobutoshi Nawa, Keiko Murakami, Toshihiro Tanaka, Hisashi Ohseto, Ippei Takahashi, Akira Narita, Taku Obara, Mami Ishikuro, Masatsugu Orui, Aoi Noda, Genki Shinoda, Yuki Nagata, Satoshi Nagaie, Soichi Ogishima, Junichi Sugawara, Shigeo Kure, Kengo Kinoshita, Atsushi Hozawa, Nobuo Fuse, Gen Tamiya, Wendy L Bennett, Margaret A Taub, Pamela J Surkan, Shinichi Kuriyama, Takeo Fujiwara

    Journal of human genetics　70　(5)　265-273　2025/05

    DOI： 10.1038/s10038-025-01330-4 　

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    Gestational diabetes mellitus (GDM) is common in Japanese women, posing serious risks to mothers and offspring. This study investigated the influence of maternal genotypes on the risk of GDM and examined how these genotypes modify the effects of psychological and dietary factors during pregnancy. We analyzed data from 20,399 women in the Tohoku Medical Megabank Project Birth and Three-Generation Cohort. Utilizing two customized SNP arrays for the Japanese population (Affymetrix Axiom Japonica Array v2 and NEO), we performed a meta-analysis to combine the datasets. Gene-environment interactions were assessed by modeling interaction terms between genome-wide significant single nucleotide polymorphisms (SNPs) and psychological and dietary factors. Our analysis identified two SNP variants, rs7643571 (p = 9.14 × 10-9) and rs140353742 (p = 1.24 × 10-8), located in an intron of the MDFIC2 gene, as being associated with an increased risk of GDM. Additionally, although there were suggestive patterns for interactions between these SNPs and both dietary factors (e.g., carbohydrate and fruit intake) and psychological distress, none of the interaction terms remained significant after Bonferroni correction (p < 0.05/8). While nominal significance was observed in some models (e.g., psychological distress, p = 0.04), the data did not provide robust evidence of effect modification on GDM risk once adjusted for multiple comparisons. These findings reveal novel genetic associations with GDM in Japanese women and highlight the importance of gene-environment interactions in its etiology. Given that previous genome-wide association studies (GWAS) on GDM have primarily focused on Western populations, our study provides new insights by examining an Asian population using a population-specific array.

  23. Association Between Human Milk Oligosaccharides and Early Adiposity Rebound in Children: A Case-Control Study of the Tohoku Medical Megabank Project Birth and Three-Generation Cohort Study. International-journal Peer-reviewed

    Kento Sawane, Ippei Takahashi, Mami Ishikuro, Hiroko Takumi, Masatsugu Orui, Aoi Noda, Genki Shinoda, Hisashi Ohseto, Tomomi Onuma, Fumihiko Ueno, Keiko Murakami, Naoko Higuchi, Tomoko Tanaka, Takashi Furuyashiki, Tomohiro Nakamura, Seizo Koshiba, Kinuko Ohneda, Kazuki Kumada, Soichi Ogishima, Atsushi Hozawa, Junichi Sugawara, Shinichi Kuriyama, Taku Obara

    The Journal of nutrition　155　(5)　1498-1507　2025/05

    DOI： 10.1016/j.tjnut.2025.02.024 　

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    BACKGROUND: Adiposity rebound (AR) is the point when the body mass index (BMI) begins to rise again during early childhood. Early AR (before age 5) is associated with a higher risk of lifelong obesity and metabolic disorders and may be influenced by breastfeeding. Although human milk oligosaccharides (HMOs) in breast milk are crucial for child growth, their association with AR status has not been studied. OBJECTIVE: To explore breast milk HMO compositions and molecules associated with AR status in children. METHODS: In this case-control study, we included 184 mother-child pairs from the Tohoku Medical Megabank Project Birth and Three-Generation (TMM BirThree) Cohort Study (93 AR cases, 91 controls). Breast milk was collected 1 month postpartum, and the concentration of 15 HMO molecules and alpha-diversity index (Inverse Simpson index) were quantified. Wilcoxon's rank-sum test and partial least squares-discriminant analysis (PLS-DA) identified candidate HMOs, and multivariable logistic regression analysis evaluated associations between candidate HMOs and AR status. Analyses were stratified by maternal secretor status (secretor or non-secretor). RESULTS: In secretor mothers, multivariable logistic regression showed that the Inverse Simpson index (OR, 0.54 [95% CI, 0.36-0.82]), sum of sialic acid-bound HMOs (0.61 [0.41-0.91]), and 3'-sialyllactose (0.67 [0.46-0.98]) were inversely associated with early AR in a fully adjusted model. A trend of interaction between sialyl-lacto-N-tetraose a (LSTa) and maternal secretor status on AR was observed in a fully adjusted model (P-value for interaction = 0.051). CONCLUSIONS: Alpha diversity, sialic acid-bound HMOs, and 3'SL may be involved in inhibiting AR in children of secretor mothers, and a trend of interactive effect of LSTa among maternal secretor status on AR was indicated. These findings offer novel perspectives on the associations between breastfeeding and a child's adiposity as well as potential metabolic disorders later in life. REGISTRY NUMBER/WEBSITE: https://www.umin.ac.jp/ (trial registration number: UMIN000047160).

  24. Genetic Risk, Lifestyle Adherence, and Risk of Developing Hyperuricaemia in a Japanese Population. International-journal Peer-reviewed

    Masato Takase, Naoki Nakaya, Tomohiro Nakamura, Mana Kogure, Rieko Hatanaka, Kumi Nakaya, Ippei Chiba, Sayuri Tokioka, Ikumi Kanno, Kotaro Nochioka, Naho Tsuchiya, Takumi Hirata, Akira Narita, Taku Obara, Mami Ishikuro, Hisashi Ohseto, Akira Uruno, Tomoko Kobayashi, Eiichi N Kodama, Yohei Hamanaka, Masatsugu Orui, Soichi Ogishima, Satoshi Nagaie, Nobuo Fuse, Junichi Sugawara, Shinichi Kuriyama, Biobank Japan Project Koichi Matsuda, Yoko Izumi, Kengo Kinoshita, Gen Tamiya, Atsushi Hozawa, Masayuki Yamamoto

    Rheumatology (Oxford, England)　64　(5)　2591-2600　2025/05

    DOI： 10.1093/rheumatology/keae492 　

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    OBJECTIVE: To investigate the inter-relationships among genetic risk, healthy lifestyle adherence, and hyperuricaemia susceptibility. METHODS: This prospective cohort study was conducted with 7,241 hyperuricaemia-free individuals aged ≥ 20 years from the Tohoku Medical Megabank Community-based cohort study. A comprehensive lifestyle score included body mass index, smoking, drinking, and physical activity, and a polygenic risk score (PRS) was constructed based on uric acid loci from a previous genome-wide association study meta-analysis. A multiple logistic regression model was used to estimate the association between genetic risk, healthy lifestyle, and hyperuricaemia incidence and calculate the area under the receiver operating characteristic curve (AUROC). Hyperuricaemia was defined as a uric acid level ≥7.0 mg/dl or a self-reported history of hyperuricaemia. RESULTS: Of the 7,241 adults (80.7% females; mean [SD] age: 57.7 [12.6] years), 217 (3.0%) developed hyperuricaemia during 3.5 years of follow-up. Genetic risk correlated with hyperuricaemia development (P for interaction = 0.287), and lifestyle risks were independently associated. Those with a high genetic risk and poor lifestyle had the highest risk (odds ratio: 5.34; 95% confidence interval [CI]: 2.61-12.10). Although not statistically significant, incorporating the PRS in the model with lifestyle information improved predictive ability (AUROC = 0.771, 95% CI: 0.736-0.806 for lifestyle; AUROC = 0.785, 95% CI: 0.751-0.819 for lifestyle and PRS; p = 0.07). CONCLUSION: : A healthy lifestyle to prevent hyperuricaemia, irrespective of genetic risk, may mitigate the genetic risk. Genetic risk may complement lifestyle factors in identifying individuals at a heightened hyperuricaemia risk.

  25. Has the impact of cigarette smoking on mortality been underestimated by overlooking second-hand smoke? Tohoku medical megabank community-based cohort study. International-journal Peer-reviewed

    Masato Takase, Naoki Nakaya, Kozo Tanno, Mana Kogure, Rieko Hatanaka, Kumi Nakaya, Ippei Chiba, Sayuri Tokioka, Kotaro Nochioka, Takahiro Tabuchi, Taku Obara, Mami Ishikuro, Yuka Kotozaki, Akira Uruno, Tomoko Kobayashi, Eiichi N Kodama, Yohei Hamanaka, Masatsugu Orui, Soichi Ogishima, Satoshi Nagaie, Takahito Nasu, Hideki Ohmomo, Nobuo Fuse, Junichi Sugawara, Shinichi Kuriyama, Yoko Izumi, Atsushi Hozawa

    BMJ public health　3　(1)　e001746　2025/04/02

    DOI： 10.1136/bmjph-2024-001746 　

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    OBJECTIVES: Previous studies have assessed the impact of active smoking on mortality using the population-attributable fraction (PAF). However, these studies have not included second-hand smoking (SHS), potentially underestimating smoking's impact. We compared the PAF from active smoking alone with the PAF, including SHS exposure. DESIGN: Prospective cohort study. SETTING: A community-based cohort study in Japan. PARTICIPANTS: 40 796 participants aged ≥20 years. MAIN OUTCOME MEASURES: SHS was defined as inhaling someone else's cigarette smoke at the workplace or home in the past year. We classified smoking status and SHS into ten categories: never-smoker without SHS, never-smoker with SHS, past smoker without SHS, past smoker with SHS, current smoker 1-9 cigarettes/day without SHS, current smoker 1-9 cigarettes/day with SHS, 10-19 cigarettes/day without SHS, 10-19 cigarettes/day with SHS, ≥20 cigarettes/day without SHS and ≥20 cigarettes/day with SHS. The main outcome was all-cause mortality. RESULTS: During the median follow-up period of 6.5 (5.7-7.5) years, 788 men and 328 women died. For men, compared with never-smokers without SHS, past smokers without SHS (HR, 1.39 [95% CI, 1.11 to 1.73]) and past smokers with SHS (HR, 1.48 (95% CI, 1.10 to 2.00)) were associated with all-cause mortality. For women, never-smokers with SHS had a significantly higher risk of all-cause mortality (HR, 1.36 (95% CI, 1.00 to 1.84)). Without considering SHS, 28.0% and 2.3% of all-cause mortality in men and women, respectively, were attributable to past and current smoking. Including SHS, PAF increased to 31.3% in men and 8.4% in women. CONCLUSIONS: We clarified that smoking's impact was underestimated by not accounting for SHS, especially in women. Information on SHS is crucial for understanding smoking's health impact. This study supports the importance of avoiding smoking and preventing SHS.

  26. Returning genetic risk information for hereditary cancers to participants in a population-based cohort study in Japan. International-journal Peer-reviewed

    Kinuko Ohneda, Yoichi Suzuki, Yohei Hamanaka, Shu Tadaka, Muneaki Shimada, Junko Hasegawa-Minato, Masanobu Takahashi, Nobuo Fuse, Fuji Nagami, Hiroshi Kawame, Tomoko Kobayashi, Yumi Yamaguchi-Kabata, Kengo Kinoshita, Tomohiro Nakamura, Soichi Ogishima, Kazuki Kumada, Hisaaki Kudo, Shin-Ichi Kuriyama, Yoko Izumi, Ritsuko Shimizu, Mikako Tochigi, Tokiwa Motonari, Hideki Tokunaga, Atsuo Kikuchi, Atsushi Masamune, Yoko Aoki, Chikashi Ishioka, Takanori Ishida, Masayuki Yamamoto

    Journal of human genetics　70　(3)　147-157　2025/03

    DOI： 10.1038/s10038-024-01314-w 　

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    Large-scale population cohort studies that collect genomic information are tasked with returning an assessment of genetic risk for hereditary cancers to participants. While several studies have applied to return identified genetic risks to participants, comprehensive surveys of participants' understanding, feelings, and behaviors toward cancer risk remain to be conducted. Here, we report our experience and surveys of returning genetic risks to 100 carriers of pathogenic variants for hereditary cancers identified through whole genome sequencing of 50 000 individuals from the Tohoku Medical Megabank project, a population cohort study. The participants were carriers of pathogenic variants associated with either hereditary breast and ovarian cancer (n = 79, median age=41) or Lynch syndrome (n = 21, median age=62). Of these, 28% and 38% had a history of cancer, respectively. We provided information on cancer risk, heritability, and clinical actionability to the participants in person. The comprehension assessment revealed that the information was better understood by younger (under 60 years) females than by older males. Scores on the cancer worry scale were positively related to cancer experiences and general psychological distress. Seventy-one participants were followed up at Tohoku University Hospital; six females underwent risk-reducing surgery triggered by study participation and three were newly diagnosed with cancer during surveillance. Among first-degree relatives of hereditary breast and ovarian cancer carriers, participants most commonly shared the information with daughters. This study showed the benefits of returning genetic risks to the general population and will provide insights into returning genetic risks to asymptomatic pathogenic variant carriers in both clinical and research settings.

  27. Attitudes toward subsequent primary cancer prevention among survivors of childhood, adolescent, and young adult (CAYA) cancer in Japan: results of a comprehensive questionnaire survey on long-term women's health after CAYA cancer. International-journal Peer-reviewed

    Mikiko Asai-Sato, Toshifumi Takahashi, Kuniaki Ota, Hiromi Komiya, Takeshi Iwasa, Soichi Ogishima, Nao Suzuki

    Journal of gynecologic oncology　36　(2)　e29　2025/03

    DOI： 10.3802/jgo.2025.36.e29 　

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    OBJECTIVE: Prevention of subsequent primary cancer (SPC) is crucial for cancer survivors, particularly those who developed the disease during childhood, adolescence, and young adulthood (CAYA). The aim of this study was to assess the current status of SPC prevention among female CAYA cancer survivors. METHODS: A survey regarding long-term health issues after cancer treatment was conducted using questionnaires that targeted women aged ≥20 years who had developed cancer before the age of 40 years. The survey assessed various health issues, and this paper focuses on the items related to the respondents' perceptions and attitudes toward SPC prevention. RESULTS: A total of 1,026 respondents were analyzed. Over 60% of respondents were aware of SPC and the need for screening. The percentages of respondents who underwent regular SPC screening were 68.3%, 68.4%, 49.7%, 58.6%, and 57.0% for cervical, breast, lung, and gastric cancers, respectively. After adjusting for age, type of first cancer, and current follow-up, we found that receiving recommendations for SPC screening was the most critical factor in SPC screening uptake (odds ratio=3.836; 95% confidence interval=2.281-6.451; p<0.001 by logistic regression analysis). However, only 40.4% of the respondents received recommendations for SPC screening from their physicians. CONCLUSION: Despite good awareness of SPC prevention, the uptake rate for cancer screening among cancer survivors was inadequate, indicating that preventive measures for SPC should be promoted. Because recommendations from others strongly influence SPC screening uptake, healthcare professionals should have accurate knowledge and provide guidance regarding SPC prevention.

  28. Consistent Performance of GPT-4o in Rare Disease Diagnosis Across Nine Languages and 4967 Cases. International-journal

    Leonardo Chimirri, J Harry Caufield, Yasemin Bridges, Nicolas Matentzoglu, Michael Gargano, Mario Cazalla, Shihan Chen, Daniel Danis, Alexander Jm Dingemans, Petra Gehle, Adam S L Graefe, Weihong Gu, Markus S Ladewig, Pablo Lapunzina, Julián Nevado, Enock Niyonkuru, Soichi Ogishima, Dominik Seelow, Jair A Tenorio Castaño, Marek Turnovec, Bert Ba de Vries, Kai Wang, Kyran Wissink, Zafer Yüksel, Gabriele Zucca, Melissa A Haendel, Christopher J Mungall, Justin Reese, Peter N Robinson

    medRxiv : the preprint server for health sciences　2025/02/28

    DOI： 10.1101/2025.02.26.25322769 　

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    BACKGROUND: Large language models (LLMs) are increasingly used in the medical field for diverse applications including differential diagnostic support. The estimated training data used to create LLMs such as the Generative Pretrained Transformer (GPT) predominantly consist of English-language texts, but LLMs could be used across the globe to support diagnostics if language barriers could be overcome. Initial pilot studies on the utility of LLMs for differential diagnosis in languages other than English have shown promise, but a large-scale assessment on the relative performance of these models in a variety of European and non-European languages on a comprehensive corpus of challenging rare-disease cases is lacking. METHODS: We created 4967 clinical vignettes using structured data captured with Human Phenotype Ontology (HPO) terms with the Global Alliance for Genomics and Health (GA4GH) Phenopacket Schema. These clinical vignettes span a total of 378 distinct genetic diseases with 2618 associated phenotypic features. We used translations of the Human Phenotype Ontology together with language-specific templates to generate prompts in English, Chinese, Czech, Dutch, German, Italian, Japanese, Spanish, and Turkish. We applied GPT-4o, version gpt-4o-2024-08-06, to the task of delivering a ranked differential diagnosis using a zero-shot prompt. An ontology-based approach with the Mondo disease ontology was used to map synonyms and to map disease subtypes to clinical diagnoses in order to automate evaluation of LLM responses. FINDINGS: For English, GPT-4o placed the correct diagnosis at the first rank 19·8% and within the top-3 ranks 27·0% of the time. In comparison, for the eight non-English languages tested here the correct diagnosis was placed at rank 1 between 16·9% and 20·5%, within top-3 between 25·3% and 27·7% of cases. INTERPRETATION: The differential diagnostic performance of GPT-4o across a comprehensive corpus of rare-disease cases was consistent across the nine languages tested. This suggests that LLMs such as GPT-4o may have utility in non-English clinical settings. FUNDING: NHGRI 5U24HG011449 and 5RM1HG010860. P.N.R. was supported by a Professorship of the Alexander von Humboldt Foundation; P.L. was supported by a National Grant (PMP21/00063 ONTOPRECISC-III, Fondos FEDER).

  29. Age-related factors associated with preserved ratio impaired spirometry: The Tohoku medical Megabank project community-based cohort study. International-journal Peer-reviewed

    Chikashi Iwasaki, Kumi Nakaya, Mitsuhiro Yamada, Naoki Nakaya, Mana Kogure, Rieko Hatanaka, Ippei Chiba, Masato Takase, Sayuri Tokioka, Taku Obara, Masatsugu Orui, Naoya Fujino, Akira Koarai, Tomoko Kobayashi, Yohei Hamanaka, Eiichi N Kodama, Satoshi Nagaie, Soichi Ogishima, Nobuo Fuse, Shinichi Kuriyama, Hisatoshi Sugiura, Atsushi Hozawa

    Respiratory investigation　64　(1)　101343-101343　2025/01

    DOI： 10.1016/j.resinv.2025.101343 　

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    BACKGROUND: Preserved ratio impaired spirometry (PRISm), defined as a forced expiratory volume in 1 s (FEV1) to forced vital capacity (FVC) ratio ≥0.70 and a predicted FEV1 <80 %, is associated with increased morbidity and mortality. However, determinants of PRISm, particularly in younger populations, remain poorly characterised. We aimed to address this knowledge gap. METHODS: We conducted a cross-sectional analysis of 12,350 participants from a Japanese community-based cohort using data from the Tohoku Medical Megabank Project. Participants underwent spirometry, blood pressure measurement, laboratory testing, and completed standardised questionnaires. Multivariate logistic regression was used to identify factors associated with PRISm across three age groups: 20-39, 40-59, and ≥60 years. Interactions between age groups and other explanatory variables were assessed. RESULTS: In the 20-39-year group, PRISm was independently associated with being men, diabetes mellitus, hypothyroidism, and low body mass index (BMI <18.5 kg/m2), and inversely associated with age. Among participants aged ≥60 years, PRISm was significantly associated with increasing age, overweight status (BMI ≥25.0-<30.0 kg/m2), being men, current smoking, hypertension, diabetes mellitus, bronchial asthma, elevated eosinophil counts (≥300 cells/μL), and birth weight ≥2000-<2500 g. Significant interactions were observed between age and BMI, bronchial asthma, and thyroid dysfunction. CONCLUSIONS: Our findings indicate that PRISm in younger adults is associated with hypothyroidism and underweight status, whereas in older adults, it is more closely related to constitutional and lifestyle-related factors. These results highlight the heterogeneity of PRISm and indicate that its pathophysiology and optimal management may vary by age group.

  30. Respiratory syncytial virus infection, non-respiratory syncytial virus respiratory infections, and later wheezing. International-journal Peer-reviewed

    Ippei Takahashi, Genki Shinoda, Fumihiko Ueno, Fumiko Matsuzaki, Aoi Noda, Keiko Murakami, Mami Ishikuro, Taku Obara, Yoshikazu Nakayama, Atsushi Momose, Naho Tsuchiya, Satoshi Nagaie, Soichi Ogishima, Gen Tamiya, Nobuo Fuse, Atsushi Hozawa, Junichi Sugawara, Shigeo Kure, Shinichi Kuriyama

    Pediatrics international : official journal of the Japan Pediatric Society　67　(1)　e70050　2025

    DOI： 10.1111/ped.70050 　

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    BACKGROUND: Studies investigating whether respiratory syncytial virus (RSV) infection, non-RSV respiratory infections, respiratory-related disorders, and non-respiratory-related disorders are associated with subsequent wheezing are limited in Japan. We aimed to elucidate the relationship between hospitalization for RSV infection, non-RSV respiratory infections, respiratory-related disorders, as well as non-respiratory-related disorders and subsequence wheezing in Japanese children. METHODS: This study included 7340 children and was conducted under the TMM BirThree Cohort Study (Tohoku Medical Megabank Project Birth and Three-Generation Cohort Study). Data was collected from birth records and questionnaires. We categorized hospitalization history into five categories: "no hospitalization," hospitalizations for "RSV infection," "non-RSV respiratory infections," "respiratory-related disorders," and "non-respiratory-related disorders." The association of the five categories with later wheezing at 3 years of age was evaluated using multivariable logistic regression analysis. RESULTS: After adjusting for covariates, an association was shown between hospitalization under 2 years of age and later wheezing (odds ratio [OR] = 2.78; 95% confidence interval [CI] = 1.97-3.88 for "RSV infection"; OR = 2.61; 95% CI = 1.44-4.57 for "non-RSV respiratory infections"; and OR = 3.33; 95% CI = 2.43-4.54 for "respiratory-related disorders"). CONCLUSION: Hospitalization of children under 2 years of age for RSV infection as well as non-RSV respiratory infections and respiratory-related disorders were associated with subsequent wheezing.

  31. Genome-Wide Association Study of Intraocular Pressure in Population-Based Cohorts in Japan: The Tohoku Medical Megabank Organization Eye Study. International-journal Peer-reviewed

    Nobuo Fuse, Hayato Anzawa, Miyuki Sakurai, Ikuko N Motoike, Satoshi Nagaie, Tomohiro Nakamura, Akiko Miyazawa, Eiichi N Kodama, Masatsugu Orui, Yohei Hamanaka, Tomoko Kobayashi, Akira Uruno, Makiko Taira, Ritsuko Shimizu, Naoki Nakaya, Mami Ishikuro, Taku Obara, Fuji Nagami, Soichi Ogishima, Fumiki Katsuoka, Kazuki Kumada, Shinichi Kuriyama, Atsushi Hozawa, Yoko Izumi, Kengo Kinoshita, Masayuki Yamamoto

    Ophthalmology science　5　(5)　100821-100821　2025

    DOI： 10.1016/j.xops.2025.100821 　

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    PURPOSE: This study was conducted to elucidate the distribution and determinants of ocular biometric parameters and to assess the association between intraocular pressure (IOP) and single nucleotide polymorphisms (SNPs) in the Japanese population-based genome cohort studies. DESIGN: Cross-sectional analysis involving genome-wide association studies (GWASs). PARTICIPANTS: In total, 22 150 participants aged >18 years from the population cohort (Community-Based Cohort [CommCohort]) and 11 302 participants from the Birth and Three-Generation (BirThree) Cohort of the Tohoku Medical Megabank Organization Eye Study were examined. METHODS: Participant underwent interviews, ophthalmic and physiological examinations, laboratory tests, and microarray analyses. Genome-wide association studies were conducted in the CommCohort (discovery stage) and the BirThree Cohort (replication stage), followed by a meta-analysis. Associations of SNPs and IOP were evaluated using a genome-wide significance threshold (5 × 10- 8). MAIN OUTCOME MEASURES: Association of SNPs with IOP and distributions of IOP by sex and age. RESULTS: In the discovery stage, the mean IOP of the right and left eye was 13.95 and 14.02 mmHg, respectively. In the replication stage, the corresponding values were 14.32 and 14.27 mmHg, respectively. A significant age-related reduction in IOP was observed in both stages (P < 0.001). Genome-wide association studies identified 573 and 2 genome-wide significant SNPs in the discovery and replication stages, respectively. Meta-analysis revealed 1601 significant SNPs across 21 loci on 11 chromosomes (Chrs). Of these loci, 17 were previously known to be associated with IOP or glaucoma, while four-septin-8 (SEPT8; Chr5), aldehyde dehydrogenase 2 (ALDH2; Chr12), collagen type VI alpha 2 chain (COL6A2; Chr21), and Wnt family member 7B (WNT7B; Chr22)-were newly identified. CONCLUSIONS: This large-scale GWAS in a Japanese population identified 21 loci associated with IOP, including 4 novel loci. The findings highlight both genetic similarities and population-specific variations in SNPs influencing IOP and provide valuable insights to enhance eye health care, including glaucoma management. FINANCIAL DISCLOSURES: Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.

  32. Prevalence and Associations of Epiretinal Membrane by OCT in a Japanese Population-Based Cohort: Tohoku Medical Megabank Organization Eye Study. International-journal Peer-reviewed

    Akihiko Shiraki, Atsushi Hirayama, Nobuo Fuse, Ryo Kawasaki, Satoko Fujimoto, Tomoyuki Okazaki, Susumu Sakimoto, Takatoshi Maeno, Makiko Taira, Tomo Saito, Tomohiro Nakamura, Soichi Ogishima, Atsushi Hozawa, Kengo Kinoshita, Masayuki Yamamoto, Kohji Nishida

    Ophthalmology science　5　(4)　100752-100752　2025

    DOI： 10.1016/j.xops.2025.100752 　

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    PURPOSE: To examine the prevalence of epiretinal membrane (ERM) according to the OCT-based severity scales, and to describe associations focusing on the impact of smoking and axial length of the globe. DESIGN: Cross-sectional study. PARTICIPANTS: The baseline examination cohort comprised participants from the Tohoku Medical Megabank community cohort recruited from 2013 to 2017. METHODS: In total, 38 118 eyes of 19 486 participants were classified with ERM staging. The characteristics of ERM severity were analyzed, and the association between the prevalence of ERM and ocular and systemic parameters was investigated using logistic regression models. Cubic spline models were constructed to visualize the relationships with lifetime smoking exposure and axial lengths. Regarding ERM severity, the associations between stage 1 and stage 2 or more were analyzed with multivariate analysis. MAIN OUTCOME MEASURES: Epiretinal membrane prevalence at each stage determined via OCT and factors associated with ERM presence and severity. RESULTS: The prevalence of ERM was 2.3% per eye (3.6% per person), with a predominance at stage 1. The presence of severe ERM stages was higher in older individuals. The multivariate logistic analysis revealed that older age, female sex, and long axial length were associated with a higher prevalence of ERM. In a multivariate analysis stratified by sex, glaucoma was also identified as a significant factor associated with the prevalence of ERM in women. In the cubic spline model, no consistent trend was observed between smoking and ERM prevalence. However, a U-shaped relationship was indicated between axial length and ERM prevalence. Epiretinal membrane severity highlighted older age, alcohol consumption, and very long axial length as significantly associated compared with stage 1. CONCLUSIONS: Epiretinal membrane prevalence was significantly associated with older age, female sex, and long axial length. FINANCIAL DISCLOSURES: Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.

  33. Absolute quantification of eight human milk oligosaccharides in breast milk to evaluate their concentration profiles and associations with infants' neurodevelopmental outcomes. International-journal Peer-reviewed

    Keigo Sato, Yoshitaka Nakamura, Kazuhito Fujiyama, Kinuko Ohneda, Takahiro Nobukuni, Soichi Ogishima, Satoshi Mizuno, Seizo Koshiba, Shinichi Kuriyama, Shinji Jinno

    Journal of food science　89　(12)　10152-10170　2024/12

    DOI： 10.1111/1750-3841.17597 　

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    Human milk oligosaccharides (HMOs) have been positively associated with child neurodevelopment in some cohort studies. However, there is a lack of consistency in the association between HMOs and benefits to infants' brains. Moreover, the quantification methods for HMOs have not yet been standardized. In this study, we developed a quantification method for evaluating eight HMOs (2'-fucosyllactose [2'-FL], 3'-fucosyllactose [3'-FL], 3'-sialyllactose [3'-SL], 6'-sialyllactose [6'-SL], lactosialyltetrasaccharide a [LSTa], lactosialyltetrasaccharide b [LSTb], lactosialyltetrasaccharide c [LSTc], and disialyllacto-N-tetraose [DSLNT]) in breast milk. After validating the method, we applied it to 1-month breast milk samples (n = 150) from the Tohoku Medical Megabank Project Birth and Three-Generation Cohort Study to assess HMO profiles in breast milk and their possible association with changes in head circumference z-score (ΔHCZ) and neurodevelopmental scores of children (as measured by the Ages and Stages Questionnaire, Third Edition). The validation demonstrated that the method had relative standard deviation ≤ 12.7% of precision and 79.5-110.9% of accuracy. Using this method, eight HMO levels (2'-FL, 0-4.74 mg/mL; 3'-FL, 0.02-1.52 mg/mL; 3'-SL, 0.07-0.32 mg/mL; 6'-SL, 0.01-0.70 mg/mL; LSTa, 0.002-0.043 mg/mL; LSTb, 0.02-0.31 mg/mL; LSTc, 0.001-0.47 mg/mL; and DSLNT, 0.09-0.71 mg/mL [min-max, all participants]) and the ratio of low secretors (16.0%) in the Japanese cohort were obtained. The obtained HMO levels in breast milk were subjected to multivariate analysis to screen for HMOs showing a positive association with ΔHCZ and neurodevelopmental scores. The results proposed that ΔHCZ was positively associated with LSTb and 2'-FL levels, whereas neurodevelopmental scores were positively associated with 2'-FL levels (among all participants) and 3'-SL and DSLNT levels (among secretor participants). This study showed that the developed method provides HMO profiles in Japanese breast milk, as well as additional information on the associations between specific HMOs and neurodevelopment, reinforcing the sum of evidence for the role of HMOs in the brain.

  34. Genetic Risk, Healthy Lifestyle Adherence, and Risk of Developing Diabetes in the Japanese Population. Peer-reviewed

    Masato Takase, Naoki Nakaya, Tomohiro Nakamura, Mana Kogure, Rieko Hatanaka, Kumi Nakaya, Ippei Chiba, Ikumi Kanno, Kotaro Nochioka, Naho Tsuchiya, Takumi Hirata, Akira Narita, Taku Obara, Mami Ishikuro, Akira Uruno, Tomoko Kobayashi, Eiichi N Kodama, Yohei Hamanaka, Masatsugu Orui, Soichi Ogishima, Satoshi Nagaie, Nobuo Fuse, Junichi Sugawara, Shinichi Kuriyama, Koichi Matsuda, Yoko Izumi, Kengo Kinoshita, Gen Tamiya, Atsushi Hozawa, Masayuki Yamamoto

    Journal of atherosclerosis and thrombosis　31　(12)　1717-1732　2024/12/01

    DOI： 10.5551/jat.64906 　

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    AIM: This study examined the relationship between genetic risk, healthy lifestyle, and risk of developing diabetes. METHODS: This prospective cohort study included 11,014 diabetes-free individuals ≥ 20 years old from the Tohoku Medical Megabank Community-based cohort study. Lifestyle scores, including the body mass index, smoking, physical activity, and gamma-glutamyl transferase (marker of alcohol consumption), were assigned, and participants were categorized into ideal, intermediate, and poor lifestyles. A polygenic risk score (PRS) was constructed based on the type 2 diabetes loci from the BioBank Japan study. A multiple logistic regression model was used to estimate the association between genetic risk, healthy lifestyle, and diabetes incidence and to calculate the area under the receiver operating characteristic curve (AUROC). RESULT: Of the 11,014 adults included (67.8% women; mean age [standard deviation], 59.1 [11.3] years old), 297 (2.7%) developed diabetes during a mean 4.3 (0.8) years of follow-up. Genetic and lifestyle score is independently associated with the development of diabetes. Compared with the low genetic risk and ideal lifestyle groups, the odds ratio was 3.31 for the low genetic risk and poor lifestyle group. When the PRS was integrated into a model including the lifestyle and family history, the AUROC significantly improved to 0.719 (95% confidence interval [95% CI]: 0.692-0.747) compared to a model including only the lifestyle and family history (0.703 [95% CI, 0.674-0.732]). CONCLUSION: Our findings indicate that adherence to a healthy lifestyle is important for preventing diabetes, regardless of genetic risk. In addition, genetic risk might provide information beyond lifestyle and family history to stratify individuals at high risk of developing diabetes.

  35. Depressive symptoms as risk factors for the onset of home hypertension: a prospective cohort study. International-journal Peer-reviewed

    Sayuri Tokioka, Naoki Nakaya, Rieko Hatanaka, Kumi Nakaya, Mana Kogure, Ippei Chiba, Kotaro Nochioka, Hirohito Metoki, Takahisa Murakami, Michihiro Satoh, Tomohiro Nakamura, Mami Ishikuro, Taku Obara, Yohei Hamanaka, Masatsugu Orui, Tomoko Kobayashi, Akira Uruno, Eiichi N Kodama, Satoshi Nagaie, Soichi Ogishima, Yoko Izumi, Nobuo Fuse, Shinichi Kuriyama, Atsushi Hozawa

    Hypertension research　47　(11)　2989-3000　2024/11

    DOI： 10.1038/s41440-024-01790-9 　

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    Depression is comorbid with somatic diseases; however, the relationship between depressive symptoms and hypertension (HT), a risk factor for cardiovascular events, remains unclear. Home blood pressure (BP) is more reproducible and accurately predictive of cardiovascular diseases than office BP. Therefore, we focused on home BP and investigated whether depressive symptoms contributed to the future onset of home HT. This prospective cohort study used data from the Tohoku Medical Megabank Community-Cohort Study (conducted in the Miyagi Prefecture, Japan) and included participants with home normotension (systolic blood pressure (SBP) < 135 mmHg and diastolic blood pressure (DBP) < 85 mmHg). Depressive symptoms were evaluated using the Center for Epidemiologic Studies Depression Scale-Japanese version at the baseline survey. In the secondary survey, approximately 4 years later, the onset of home HT was evaluated (SBP ≥ 135 mmHg or DBP ≥ 85 mmHg) and was compared in participants with and without depressive symptoms. Of the 3 082 (mean age: 54.2 years; females: 80.9%) participants, 729 (23.7%) had depressive symptoms at the baseline survey. During the 3.5-year follow-up, 124 (17.0%) and 388 (16.5%) participants with and without depressive symptoms, respectively, developed home HT. Multivariable adjusted odds ratios were 1.37 (95% confidence interval (CI): 1.02-1.84), 1.18 (95% CI: 0.86-1.61), and 1.66 (95% CI: 1.17-2.36) for home, morning, and evening HT, respectively. This relationship was consistent in the subgroup analyses according to age, sex, BP pattern, and drinking habit. Depressive symptoms increased the risk of new-onset home HT, particularly evening HT, among individuals with home normotension. This prospective cohort study revealed that depressive symptoms are risk factors for new-onset home hypertension, particularly evening hypertension among individuals with home normotension. Assessing home blood pressure in individuals with depressive symptoms is important for the prevention of hypertension and concomitant cardiovascular diseases.

  36. Identification of risk loci for postpartum depression in a genome-wide association study. International-journal Peer-reviewed

    Xue Li, Nagahide Takahashi, Akira Narita, Yukako Nakamura, Mika Sakurai-Yageta, Keiko Murakami, Mami Ishikuro, Taku Obara, Masahiro Kikuya, Fumihiko Ueno, Hirohito Metoki, Hisashi Ohseto, Ippei Takahashi, Tomohiro Nakamura, Noriko Warita, Tomoka Shoji, Zhiqian Yu, Chiaki Ono, Natsuko Kobayashi, Saya Kikuchi, Tasuku Matsuki, Fuji Nagami, Soichi Ogishima, Junichi Sugawara, Tetsuro Hoshiai, Masatoshi Saito, Nobuo Fuse, Kengo Kinoshita, Masayuki Yamamoto, Nobuo Yaegashi, Norio Ozaki, Gen Tamiya, Shinichi Kuriyama, Hiroaki Tomita

    Psychiatry and clinical neurosciences　78　(11)　712-720　2024/11

    DOI： 10.1111/pcn.13731 　

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    AIM: Genome-wide association studies (GWAS) of postpartum depression (PPD) based on accumulated cohorts with multiple ethnic backgrounds have failed to identify significantly associated loci. Herein, we conducted a GWAS of Japanese perinatal women along with detailed confounding information to uncover PPD-associated loci. METHODS: The first and second cohorts (n = 9260 and n = 8582 perinatal women enrolled in the Tohoku Medical Megabank Project) and the third cohort (n = 997), recruited at Nagoya University, underwent genotyping. Of them, 1421, 1264, and 225 were classified as PPD based on the Edinburgh Postnatal Depression Scale 1 month after delivery. The most influential confounding factors of genetic liability to PPD were selected, and logistic regression analyses were performed to evaluate genetic associations with PPD after adjusting for confounders. RESULTS: A meta-analysis of GWAS results from the three cohorts identified significant associations between PPD and the following loci (P < 5 × 10-8) by integrating the number of deliveries and the number of family members living together as the most influential confounders: rs377546683 at DAB1, rs11940752 near UGT8, rs141172317, rs117928019, rs76631412, rs118131805 at DOCK2, rs188907279 near ZNF572, rs504378, rs690150, rs491868, rs689917, rs474978, rs690118, rs690253 near DIRAS2, rs1435984417 at ZNF618, rs57705782 near PTPRM, and rs185293917 near PDGFB. Pathway analyses indicated that SNPs suggestively associated with PPD were mostly over-represented in categories including long-term depression, GnRH signaling, glutamatergic synapse, oxytocin signaling, and Rap1 signaling. CONCLUSION: The current GWAS study identified eight loci significantly associated with PPD, which may clarify the genetic structure underlying its pathogenesis.

  37. Early prediction of hypertensive disorders of pregnancy toward preventive early intervention. International-journal Peer-reviewed

    Satoshi Mizuno, Satoshi Nagaie, Junichi Sugawara, Gen Tamiya, Taku Obara, Mami Ishikuro, Shinichi Kuriyama, Nobuo Yaegashi, Hiroshi Tanaka, Masayuki Yamamoto, Soichi Ogishima

    AJOG global reports　4　(4)　100383-100383　2024/11

    DOI： 10.1016/j.xagr.2024.100383 　

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    BACKGROUND: Various disease prediction models have been developed, capitalizing on the wide use of electronic health records, but environmental factors that are important in the development of noncommunicable diseases are rarely included in the prediction models. Hypertensive disorders of pregnancy are leading causes of maternal morbidity and mortality and are known to cause several serious complications later in life. OBJECTIVE: This study aims to develop early hypertensive disorders of pregnancy prediction models using comprehensive environmental factors based on self-report questionnaires in early pregnancy. STUDY DESIGN: We developed machine learning and artificial intelligence models for the early prediction of hypertensive disorders of pregnancy using early pregnancy data from approximately 23,000 pregnancies in the Tohoku Medical Megabank Birth and Three Generation Cohort Study. We clarified the important features for prediction based on regression coefficients or Gini coefficients of the interpretable artificial intelligence models (i.e., logistic regression, random forest and XGBoost models) among our developed models. RESULTS: The performance of the early hypertensive disorders of pregnancy prediction models reached an area under the receiver operating characteristic curve of 0.93, demonstrating that the early hypertensive disorders of pregnancy prediction models developed in this study retain sufficient performance in hypertensive disorders of pregnancy prediction. Among the early prediction models, the best performing model was based on self-reported questionnaire data in early pregnancy (mean of 20.2 gestational weeks at filling) which consist of comprehensive lifestyles. The interpretation of the models reveals that both eating habits were dominantly important for prediction. CONCLUSION: We have developed high-performance models for early hypertensive disorders of pregnancy prediction using large-scale cohort data from the Tohoku Medical Megabank project. Our study clearly revealed that the use of comprehensive lifestyles from self-report questionnaires led us to predict hypertensive disorders of pregnancy risk at the early stages of pregnancy, which will aid early intervention to reduce the risk of hypertensive disorders of pregnancy.

  38. Associations between leisure time, non-leisure time physical activity, and kidney function in Japanese adults: a cross-sectional study. International-journal Peer-reviewed

    Ippei Chiba, Naoki Nakaya, Mana Kogure, Rieko Hatanaka, Kumi Nakaya, Sayuri Tokioka, Tomohiro Nakamura, Satoshi Nagaie, Soichi Ogishima, Taku Obara, Toshimi Sato, Nobuo Fuse, Yoko Izumi, Shinichi Kuriyama, Atsushi Hozawa

    BMC nephrology　25　(1)　354-354　2024/10/16

    DOI： 10.1186/s12882-024-03813-6 　

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    BACKGROUND: Chronic kidney disease (CKD) contributes to decreased life expectancy. We examined the association between leisure-time physical activity (LTPA), non-leisure-time physical activity (non-LTPA) and kidney function. METHODS: This was a cross-sectional study including 32 162 community-dwelling adults aged ≥ 20 years from the Tohoku Medical MegaBank community-based cohort study. Kidney function was evaluated using cystatin C-based estimated glomerular filtration rate (eGFR) as well as self-reported LTPA and non-LTPA. CKD was defined as either eGFR decline (≤ 60 mL/min/1.73 m2) or presence of albuminuria (albumin-creatinine ≥ 30 mg/g). The association between domain-specific physical activity and kidney function, and CKD prevalence was examined using multivariable-adjusted ordinary least squares and modified Poisson models. RESULTS: The mean eGFR was 98.1 (± 13.2) mL/min/1.73 m2. 3 185 (9.9%) participants were classified as having CKD. The mean LTPA and non-LTPA levels were 2.9 (± 4.2) and 16.6 (± 14.2) METs-hour/day, respectively. For LTPA, in the adjusted model, the quartile groups with higher levels had a higher kidney function (β, 0.36; 95% confidence intervals [CI], [0.06, 0.66]; p = 0.019 for the 2nd quartile, β, 0.82; 95% CI, [0.51, 1.14]; p < 0.001 for the 3rd quartile, and β, 1.16; 95% CI, [0.83, 1.49]; p < 0.001 for the 4th quartile), whereas there were no apparent associations for prevalence of CKD. For non-LTPA, 4th quartile was associated with decreased eGFR (β, -0.42; 95% CI, [-0.72, -0.11]; p = 0.007) and higher prevalence of CKD prevalence (Prevalence ratio, 1.12; 95% CI, [1.02, 1.24]; p = 0.022). These associations with kidney function remained consistent in the subgroup analyses divided by demographic and biological variables. CONCLUSIONS: We observed a positive association between higher LTPA levels and better kidney function, but not association with CKD prevalence. In contrast, higher non-LTPA was negatively associated with both kidney function and CKD prevalence. These findings suggest that promoting LTPA is beneficial for kidney function.

  39. Inconsistent embryo selection across polygenic score methods International-journal Peer-reviewed

    Shinichi Namba, Masato Akiyama, Haruka Hamanoue, Kazuto Kato, Minae Kawashima, Itaru Kushima, Koichi Matsuda, Masahiro Nakatochi, Soichi Ogishima, Kyuto Sonehara, Ken Suzuki, Atsushi Takata, Gen Tamiya, Chizu Tanikawa, Kenichi Yamamoto, Natsuko Yamamoto, Yukinori Okada, Norio Ozaki, Yukinori Okada

    Nature Human Behaviour　8　(12)　2264-2267　2024/10/14

    Publisher: Springer Science and Business Media LLC

    DOI： 10.1038/s41562-024-02019-y 　

    eISSN： 2397-3374

  40. Progress report of the Tohoku Medical Megabank Community-Based Cohort Study: Study profile of the repeated center-based survey during second period in Miyagi Prefecture. Peer-reviewed

    Atsushi Hozawa, Kumi Nakaya, Naoki Nakaya, Tomohiro Nakamura, Mana Kogure, Rieko Hatanaka, Ippei Chiba, Ikumi Kanno, Junichi Sugawara, Eiichi Kodama, Yohei Hamanaka, Tomoko Kobayashi, Akira Uruno, Naho Tsuchiya, Takumi Hirata, Akira Narita, Akito Tsuboi, Toru Tamahara, Akihito Otsuki, Maki Goto, Makiko Taira, Ritsuko Shimizu, Kichiya Suzuki, Taku Obara, Masahiro Kikuya, Hirohito Metoki, Mami Ishikuro, Inaho Danjoh, Soichi Ogishima, Satoshi Nagaie, Naoko Minegishi, Masahiro Hiratsuka, Kazuki Kumada, Ichiko Nishijima, Takahiro Nobukuni, Yumi Yamaguchi-Kabata, Fuji Nagami, Shigeo Kure, Nobuo Fuse, Kengo Kinoshita, Yoko Izumi, Shinichi Kuriyama, Masayuki Yamamoto

    Journal of epidemiology　34　(9)　434-443　2024/09/05

    DOI： 10.2188/jea.JE20230241 　

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    BACKGROUND: The purpose of this study was to report the basic profile of the Miyagi Prefecture part of a repeated center-based survey during the second period (2nd period survey) of the Tohoku Medical Megabank Community-Based Cohort Study (TMM CommCohort Study), as well as the participants' characteristics based on their participation type in the baseline survey. METHODS: The 2nd period survey, conducted from June 2017 to March 2021, included participants of the TMM CommCohort Study (May 2013 to March 2016). In addition to the questionnaire, blood, urine, and physiological function tests were performed during the 2nd period survey. There were three main ways of participation in the baseline survey: Type 1, Type 1 additional, or Type 2 survey. The 2nd period survey was conducted in the same manner as the Type 2 survey, which was based on the community support center (CSC). RESULTS: In Miyagi Prefecture, 29,383 (57.7%) of 50,967 participants participated in the 2nd period survey. The participation rate among individuals who had visited the CSC was approximately 80%. Although some factors differed depending on the participation type in the baseline survey, the 2nd period survey respondents in the Type 1 and Type 2 survey groups at baseline had similar traits. CONCLUSIONS: The 2nd period survey of the TMM CommCohort Study provided detailed follow-up information. Following up on the health conditions of the participants will clarify the long-term effects of disasters and contribute to personalized prevention.

  41. Association of olfactory and cognitive function test scores with hippocampal and amygdalar grey matter volume: a cross-sectional study. International-journal Peer-reviewed

    Shuichi Sato, Takao Imaeda, Shunji Mugikura, Naoko Mori, Masaki Takanashi, Kazumi Hayakawa, Tomo Saito, Makiko Taira, Akira Narita, Mana Kogure, Ippei Chiba, Rieko Hatanaka, Kumi Nakaya, Ikumi Kanno, Ryosuke Ishiwata, Tomohiro Nakamura, Ikuko N Motoike, Naoki Nakaya, Seizo Koshiba, Kengo Kinoshita, Shinichi Kuriyama, Soichi Ogishima, Fuji Nagami, Nobuo Fuse, Atsushi Hozawa

    Scientific reports　14　(1)　19138-19138　2024/08/19

    DOI： 10.1038/s41598-024-69726-4 　

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    Few population-based studies including younger adults have examined the potential of olfactory function tests to capture the degree of atrophy in memory-associated brain regions, which cannot be adequately explained by cognitive function tests screening for cognitive impairment. This population-based study investigated associations between high-resolution olfactory test data with few odours and grey matter volumes (GMVs) of the left and right hippocampi, amygdala, parahippocampi, and olfactory cortex, while accounting for differences in cognitive decline, in 1444 participants (aged 31-91 years). Regression analyses included intracranial volume (ICV)-normalised GMVs of eight memory-related regions as objective variables and age, sex, education duration, smoking history, olfaction test score, and the Montreal Cognitive Assessment-Japanese version (MoCA-J) score as explanatory variables. Significant relationships were found between olfactory test scores and ICV-normalised GMVs of the left and right hippocampi and left amygdala (p = 0.020, 0.024, and 0.028, respectively), adjusting for the MoCA-J score. The olfactory test score was significantly related to the right amygdalar GMV (p = 0.020) in older adults (age ≥ 65 years). These associations remained significant after applying Benjamini-Hochberg multiple testing correction (false discovery rate < 0.1). Therefore, olfactory and cognitive function tests may efficiently capture the degree of atrophy in the hippocampi and amygdala, especially in older adults.

  42. The association of birth weight and current BMI on the risk of hypertension: the Tohoku medical megabank community-based cohort study. International-journal Peer-reviewed

    Hiromi Himuro, Mana Kogure, Naoki Nakaya, Tomohiro Nakamura, Rieko Hatanaka, Ippei Chiba, Kumi Nakaya, Naho Tsuchiya, Takumi Hirata, Masatsugu Orui, Tomoko Kobayashi, Eiichi N Kodama, Yohei Hamanaka, Akira Uruno, Nobuo Fuse, Satoshi Nagaie, Soichi Ogishima, Mami Ishikuro, Taku Obara, Yoko Izumi, Masatoshi Saito, Shinichi Kuriyama, Atsushi Hozawa, Junichi Sugawara

    Hypertension research　47　(11)　3025-3034　2024/08/08

    DOI： 10.1038/s41440-024-01827-z 　

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    This study aimed to investigate the association of combination of birth weight and current body mass index (BMI) with the risk of hypertension in adulthood. This cross-sectional study used data from the Tohoku Medical Megabank Community-based Cohort Study conducted in Japan. A total of 10,688 subjects aged ≥20 years were eligible. We calculated the least square (LS) means of systolic blood pressure (SBP) and trend tests were performed to evaluate the linear relationships between birth weight categories and SBP. We also used a multivariate logistic regression analysis to assess the risk of hypertension associated with the combination of birth weight and current BMI. There was a statistically inverse association between birth weight and SBP in the 20-64 age group, but no significant association in the ≥65 age group. Low birth weight (LBW) with normal BMI group had a higher risk of hypertension than the normal or high birth weight groups with normal BMI. Furthermore, the group with LBW and BMI ≥25.0 kg/m2 was the highest risk for hypertension (adjusted odds ratio: 2.73; 95% CI, 2.04-3.65) compared to the reference group (birth weight 2500-3499 g and BMI 18.5-24.9 kg/m2). There was a significant association between LBW and subsequent risk of hypertension. In addition, participants with lower birth weights had a higher risk of hypertension than those with higher birth weights. However, even in participants with a lower birth weight, the risk of hypertension could be reduced when they maintained an optimal BMI.

  43. Associations of combined genetic and lifestyle risks with hypertension and home hypertension. International-journal Peer-reviewed

    Masato Takase, Takumi Hirata, Naoki Nakaya, Tomohiro Nakamura, Mana Kogure, Rieko Hatanaka, Kumi Nakaya, Ippei Chiba, Ikumi Kanno, Kotaro Nochioka, Naho Tsuchiya, Akira Narita, Hirohito Metoki, Michihiro Satoh, Taku Obara, Mami Ishikuro, Hisashi Ohseto, Akira Uruno, Tomoko Kobayashi, Eiichi N Kodama, Yohei Hamanaka, Masatsugu Orui, Soichi Ogishima, Satoshi Nagaie, Nobuo Fuse, Junichi Sugawara, Shinichi Kuriyama, Gen Tamiya, Atsushi Hozawa, Masayuki Yamamoto

    Hypertension research　47　(8)　2064-2074　2024/08

    DOI： 10.1038/s41440-024-01705-8 　

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    No study, to our knowledge, has constructed a polygenic risk score based on clinical blood pressure and investigated the association of genetic and lifestyle risks with home hypertension. We examined the associations of combined genetic and lifestyle risks with hypertension and home hypertension. In a cross-sectional study of 7027 Japanese individuals aged ≥20 years, we developed a lifestyle score based on body mass index, alcohol consumption, physical activity, and sodium-to-potassium ratio, categorized into ideal, intermediate, and poor lifestyles. A polygenic risk score was constructed with the target data (n = 1405) using publicly available genome-wide association study summary statistics from BioBank Japan. Using the test data (n = 5622), we evaluated polygenic risk score performance and examined the associations of combined genetic and lifestyle risks with hypertension and home hypertension. Hypertension and home hypertension were defined as blood pressure measured at a community-support center ≥140/90 mmHg or at home ≥135/85 mmHg, respectively, or self-reported treatment for hypertension. In the test data, 2294 and 2322 participants had hypertension and home hypertension, respectively. Both polygenic risk and lifestyle scores were independently associated with hypertension and home hypertension. Compared with those of participants with low genetic risk and an ideal lifestyle, the odds ratios for hypertension and home hypertension in the low genetic risk and poor lifestyle group were 1.94 (95% confidence interval, 1.34-2.80) and 2.15 (1.60-2.90), respectively. In summary, lifestyle is important to prevent hypertension; nevertheless, participants with high genetic risk should carefully monitor their blood pressure despite a healthy lifestyle.

  44. Fractional exhaled nitric oxide distribution and its relevant factors in the general adult population and its healthy subpopulation. International-journal Peer-reviewed

    Mitsuhiro Yamada, Masato Takase, Kumi Nakaya, Tomohiro Nakamura, Mana Kogure, Naoki Nakaya, Naoya Fujino, Tsutomu Tamada, Chikashi Iwasaki, Manami Suzuki, Shuichiro Matsumoto, Nobuo Fuse, Akira Uruno, Kazuki Kumada, Soichi Ogishima, Shinichi Kuriyama, Masakazu Ichinose, Hisatoshi Sugiura, Atsushi Hozawa

    The journal of allergy and clinical immunology. Global　3　(3)　100253-100253　2024/08

    DOI： 10.1016/j.jacig.2024.100253 　

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    BACKGROUND: Measurement of fractional exhaled nitric oxide (Feno) has been used in the diagnosis and management of asthma. Understanding the distribution of Feno in a larger resident population and its "healthy" subpopulation would contribute to the interpretation of Feno in clinical practice. OBJECTIVE: This study aimed to investigate the distribution and its associated factors in the adult population and its healthy subpopulations. METHODS: We conducted a cross-sectional study of 8,638 men and 17,288 women aged 20 years or older living in Miyagi prefecture, Japan. We investigated the distribution of Feno and its associated factors in all subjects, a subpopulation with no history of upper and lower airway diseases (healthy subpopulation 1), and a subpopulation with no history of upper and lower airway diseases, normal lung function, and no positivity for other biomarkers of type 2 inflammation (healthy subpopulation 2). RESULTS: The distribution of Feno in healthy subpopulations, especially in healthy subpopulation 2 (median [interquartile range], 17 [12-23] with 95th percentile of 36 ppb) was lower than in all subjects (19 [13-26] ppb with 95th percentile of 47 ppb). In healthy subpopulation 1, 10.3% had elevated Feno (≥35 ppb), and elevated Feno was positively associated with factors including obstructive ventilatory defect, blood eosinophilia, house dust mite-specific IgE positivity, and history of hypertension. Male sex was associated with elevated Feno in all subjects and healthy subpopulations. CONCLUSION: The distribution of Feno in the healthy subpopulation supports the validity of the criteria (≥35 ppb) currently used in Japan for the diagnosis of asthma.

  45. How Healthy Lifestyle Habits Have Interacted with SARS-CoV-2 Infection and the Effectiveness of COVID-19 Vaccinations: Tohoku Medical Megabank Project Birth and Three-Generation Cohort Study. Peer-reviewed

    Masatsugu Orui, Taku Obara, Mami Ishikuro, Aoi Noda, Genki Shinoda, Keiko Murakami, Tomohiro Nakamura, Hirohito Metoki, Soichi Ogishima, Yoko Izumi, Naoki Nakaya, Atsushi Hozawa, Tadashi Ishii, Fuji Nagami, Masayuki Yamamoto, Shinichi Kuriyama

    JMA journal　7　(3)　353-363　2024/07/16

    DOI： 10.31662/jmaj.2024-0043 　

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    INTRODUCTION: To examine the interaction between lifestyle habits and the COVID-19 vaccinations for preventing SARS-CoV-2 infection, we analyzed 11,016 adult participants registered in the Tohoku Medical Megabank Project Birth and Three-Generation Cohort Study. METHODS: Lifestyle variables, including regular exercise, smoking and drinking habits, sleep status, body mass index, and daily breakfast consumption, were assessed from 2014 to 2019 using baseline questionnaires. Information on SARS-CoV-2 infection and the COVID-19 vaccination were also collected from March 2020 to May 2023. The study period was divided into two in the postvaccination phase: the first period (the beginning of the vaccination program) and the second period (the fourth shot onward). RESULTS: In the Cox proportional-hazards model analysis, the five-time vaccinations group showed a significantly lower risk of SARS-CoV-2 infection adjusted age, sex, underlying health condition, and lifestyle variables (hazard ratio [HR] 0.81, 95% confidence interval [CI] 0.76-0.86). Logistic regression analysis revealed that a higher number of vaccinations was significantly associated with a low risk of SARS-CoV-2 infection regardless of lifestyle habits (three times in the first period: odds ratio [OR] 0.19, 95% CI 0.15-0.24; five times in the second period: OR 0.07, 95% CI 0.05-0.11 vs. none). Regarding lifestyle habits, the risk reduction in those who had sleep satisfaction (OR 0.12, 95% CI 0.08-0.18) was slightly larger than in those who had sleep dissatisfaction (OR 0.23, 95% CI 0.17-0.32) in the group with the highest number of vaccinations in the first period; however, this interaction was hardly confirmed in the second period when the number of infected cases significantly increased. CONCLUSIONS: Our findings indicated that a higher number of COVID-19 vaccinations was associated with reduced risk of SARS-CoV-2 infection; otherwise, we may need to understand the advantages and limitations of a healthy lifestyle for preventing infection depending on the situation with vaccinations and infection spreading.

  46. Relationships of Fat Mass Index and Fat-Free Mass Index with Low-Density Lipoprotein Cholesterol Levels in the Tohoku Medical Megabank Community-Based Cohort Study. Peer-reviewed

    Masato Takase, Tomohiro Nakamura, Naoki Nakaya, Mana Kogure, Rieko Hatanaka, Kumi Nakaya, Ippei Chiba, Ikumi Kanno, Kotaro Nochioka, Naho Tsuchiya, Takumi Hirata, Taku Obara, Mami Ishikuro, Akira Uruno, Tomoko Kobayashi, Eiichi N Kodama, Yohei Hamanaka, Masatsugu Orui, Soichi Ogishima, Satoshi Nagaie, Nobuo Fuse, Junichi Sugawara, Yoko Izumi, Shinichi Kuriyama, Atsushi Hozawa

    Journal of atherosclerosis and thrombosis　31　(6)　979-1003　2024/06/01

    DOI： 10.5551/jat.64535 　

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    AIMS: Although fat mass (FM) and fat-free mass (FFM) have an impact on lipid metabolism, the relationship between different body composition phenotypes and lipid profiles is still unclear. By dividing the FM and FFM by the square of the height, respectively, the f at mass index (FMI) and fat-free mass index (FFMI) can be used to determine the variations in body composition. This study aimed to investigate the relationship of combined FMI and FFMI with low-density lipoprotein cholesterol (LDL-C) levels. METHODS: This cross-sectional study comprised 5,116 men and 13,630 women without cardiovascular disease and without treatment for hypertension, and diabetes. Following sex-specific quartile classification, FMI and FFMI were combined into 16 groups. Elevated LDL-C levels were defined as LDL-C ≥ 140 mg/dL and/or dyslipidemia treatment. Multivariable logistic regression models were used to examine the relationships between combined FMI and FFMI and elevated LDL-C levels. RESULTS: Overall, elevated LDL-C levels were found in 1,538 (30.1%) men and 5,434 (39.9%) women. In all FFMI subgroups, a higher FMI was associated with elevated LDL-C levels. Conversely, FFMI was inversely associated with elevated LDL-C levels in most FMI subgroups. Furthermore, the groups with the highest FMI and lowest FFMI had higher odds ratios for elevated LDL-C levels than those with the lowest FMI and highest FFMI. CONCLUSIONS: Regardless of FFMI, FMI was positively associated with elevated LDL-C levels. Conversely, in the majority of FMI subgroups, FFMI was inversely associated with elevated LDL-C levels.

  47. Factors Associated With the Prevalence of Irritable Bowel Syndrome: The Miyagi Part of the Tohoku Medical Megabank Project Community-based Cohort Study. International-journal Peer-reviewed

    Kumi Nakaya, Naoki Nakaya, Mana Kogure, Rieko Hatanaka, Ippei Chiba, Ikumi Kanno, Satoshi Nagaie, Tomohiro Nakamura, Motoyori Kanazawa, Soichi Ogishima, Nobuo Fuse, Shin Fukudo, Atsushi Hozawa

    Journal of neurogastroenterology and motility　30　(2)　208-219　2024/04/30

    DOI： 10.5056/jnm23090 　

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    BACKGROUND/AIMS: The objective of this research is to examine factors related to irritable bowel syndrome (IBS) prevalence in a large population-based study. METHODS: A cross-sectional study was conducted with participants in the Miyagi part of the Tohoku Medical Megabank Project Community-Based cohort study who completed the Rome II Modular Questionnaire. Multivariate odds ratios (ORs) for the presence of IBS and 95% confidence intervals (95% CIs) for the reference group were calculated for each factor. Additionally, a stratified analysis was performed by sex and age group (20-49 years, 50-64 years, and ≥ 65 years). RESULTS: Among 16 252 participants, 3025 (18.6%) had IBS, comprising 750 men (15.5%) and 2275 women (19.9%). Multivariate ORs for the presence of IBS decreased significantly with each year of age (OR, 0.98; 95% CI, 0.98-0.99). Moreover, compared with the reference group, ORs for the presence of IBS were significantly higher in individuals whose home was partially damaged by the Great East Japan Earthquake, those with < 16 years of education, those who spent less time walking, those with high perceived stress (1.77, 1.57-2.01), those with high psychological distress (1.58, 1.36-1.82), and those with high symptoms of depression (1.76, 1.60-1.94). In stratified analyses, a significant relationship was found between psychological factors and IBS prevalence in all sex and age groups. CONCLUSIONS: This large cross-sectional population-based cohort study identified several factors associated with IBS prevalence. Psychological factors were significantly associated with IBS prevalence across all age groups and sexes.

  48. Low Hemoglobin Level and Elevated Inflammatory Hematological Ratios Associated With Depression and Sleep Disturbance. International-journal Peer-reviewed

    Tetsuya Akaishi, Kumi Nakaya, Naoki Nakaya, Mana Kogure, Rieko Hatanaka, Ippei Chiba, Sayuri Tokioka, Satoshi Nagaie, Soichi Ogishima, Atsushi Hozawa

    Cureus　16　(3)　e56621　2024/03/21

    DOI： 10.7759/cureus.56621 　

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    BACKGROUND: The relationship between blood cell profiles, including hemoglobin (Hb) levels and inflammatory hematological ratios, and mental health problems currently remains unclear. AIM: This study aimed to investigate the relationship between blood cell profiles and mental health issues, including depressive state and sleep disturbance, while adjusting for potential demographic confounders. METHODOLOGY: This retrospective, cross-sectional, observational study used a population-based medical database from the Tohoku Medical Megabank Project with more than 60,000 volunteers. Data on age, sex, daily tobacco use, body mass index, and self-reported scores on the Kessler Psychological Distress Scale (K6), Athens Insomnia Scale (AIS), and the Center for Epidemiologic Studies Depression Scale (CES-D) were collected. RESULTS: A total of 62,796 volunteers (23,663 males and 39,133 females), aged ≥20 years at the time of the blood test, agreed to participate in this study. Among the evaluated blood cell profiles, Hb, hematocrit, neutrophil-to-lymphocyte ratio (NLR), and platelet-to-lymphocyte ratio (PLR) were significantly correlated with the K6, AIS, and CES-D scores, with strong statistical significance (p<0.0001 for all) in bivariate correlation analyses. A significant adjusted odds ratio (aOR) of the Hb level for elevated CES-D scores (aOR=0.965 [95% CI: 0.949-0.981], p<0.0001) was confirmed after adjusting for demographic data and daily tobacco use using a logistic regression model. Sensitivity analyses revealed that these associations existed in both males and females but were more prominent in the former. In male participants, a low Hb level was significantly associated with an elevated AIS score. The evaluated inflammatory hematological ratios, including NLR, PLR, and monocyte-to-lymphocyte ratio (MLR), also showed significant aORs with the K6, AIS, and CES-D scores after adjusting for demographic background. CONCLUSION: Low Hb levels and elevated inflammatory hematological ratios (NLR, MLR, and PLR) were associated with depressive state and sleep disturbances in the general population.

  49. Development of phenotyping algorithms for hypertensive disorders of pregnancy (HDP) and their application in more than 22,000 pregnant women. International-journal Peer-reviewed

    Satoshi Mizuno, Maiko Wagata, Satoshi Nagaie, Mami Ishikuro, Taku Obara, Gen Tamiya, Shinichi Kuriyama, Hiroshi Tanaka, Nobuo Yaegashi, Masayuki Yamamoto, Junichi Sugawara, Soichi Ogishima

    Scientific reports　14　(1)　6292-6292　2024/03/15

    DOI： 10.1038/s41598-024-55914-9 　

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    Recently, many phenotyping algorithms for high-throughput cohort identification have been developed. Prospective genome cohort studies are critical resources for precision medicine, but there are many hurdles in the precise cohort identification. Consequently, it is important to develop phenotyping algorithms for cohort data collection. Hypertensive disorders of pregnancy (HDP) is a leading cause of maternal morbidity and mortality. In this study, we developed, applied, and validated rule-based phenotyping algorithms of HDP. Two phenotyping algorithms, algorithms 1 and 2, were developed according to American and Japanese guidelines, and applied into 22,452 pregnant women in the Birth and Three-Generation Cohort Study of the Tohoku Medical Megabank project. To precise cohort identification, we analyzed both structured data (e.g., laboratory and physiological tests) and unstructured clinical notes. The identified subtypes of HDP were validated against reference standards. Algorithms 1 and 2 identified 7.93% and 8.08% of the subjects as having HDP, respectively, along with their HDP subtypes. Our algorithms were high performing with high positive predictive values (0.96 and 0.90 for algorithms 1 and 2, respectively). Overcoming the hurdle of precise cohort identification from large-scale cohort data collection, we achieved both developed and implemented phenotyping algorithms, and precisely identified HDP patients and their subtypes from large-scale cohort data collection.

  50. Relationship between traditional risk factors for hypertension and systolic blood pressure in the Tohoku Medical Megabank Community-based Cohort Study. International-journal Peer-reviewed

    Masato Takase, Naoki Nakaya, Kozo Tanno, Mana Kogure, Rieko Hatanaka, Kumi Nakaya, Ippei Chiba, Ikumi Kanno, Kotaro Nochioka, Naho Tsuchiya, Tomohiro Nakamura, Takumi Hirata, Taku Obara, Mami Ishikuro, Yuka Kotozaki, Akira Uruno, Tomoko Kobayashi, Eiichi N Kodama, Yohei Hamanaka, Masatsugu Orui, Soichi Ogishima, Satoshi Nagaie, Hideki Ohmomo, Nobuo Fuse, Junichi Sugawara, Atsushi Shimizu, Yoko Izumi, Shinichi Kuriyama, Atsushi Hozawa

    Hypertension research : official journal of the Japanese Society of Hypertension　47　(6)　1533-1545　2024/02/29

    DOI： 10.1038/s41440-024-01582-1 　

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    Risk factors for hypertension have been emphasized in the Japanese Society of Hypertension Guidelines for the Management of Hypertension. However, large-scale studies on the association of smoking, potassium excretion, and gamma-glutamyl transferase level with BP in the Japanese population are limited. We conducted a cross-sectional study to examine the association between hypertension risk factors and systolic blood pressure in the Tohoku Medical Megabank Community-based Cohort Study (23,446 men and 38,921 women aged ≥20 years). A model adjusted for age, body mass index, smoking status, drinking status, estimated daily salt intake, potassium excretion, (or urinary sodium-to-potassium ratio), gamma-glutamyl transferase, physical activity, education level, status of damage to homes during the Great East Japan Earthquake, and residential areas was used. The average age and systolic blood pressure were 62.5 (10.3) years for men and 59.6 (11.3) years for women, 128.9 (16.7) mmHg for men and 124.7 (17.5) mmHg for women, respectively. Body mass index estimated daily salt intake, urinary sodium-to-potassium ratio and gamma-glutamyl transferase levels were positively associated with systolic blood pressure. Compared with never-drinkers, current drinkers who consumed 23-45 g/day and ≥46.0 g/day had significantly increased systolic blood pressure. Conversely, current smokers (1-10 cigarettes/day and 11-20 cigarettes/day) were inversely associated with systolic blood pressure compared to never-smokers. Overall, systolic blood pressure was associated with gamma-glutamyl transferase and hypertension risk factors, including body mass index, alcohol consumption, estimated daily salt intake, urinary sodium-to-potassium ratio, and potassium excretion. Our findings support the notion that lifestyle modifications should be attempted to prevent hypertension.

  51. Study Profile of the Tsuruoka Metabolomics Cohort Study (TMCS). Peer-reviewed

    Sei Harada, Miho Iida, Naoko Miyagawa, Aya Hirata, Kazuyo Kuwabara, Minako Matsumoto, Tomonori Okamura, Shun Edagawa, Yoko Kawada, Atsuko Miyake, Ryota Toki, Miki Akiyama, Atsuki Kawai, Daisuke Sugiyama, Yasunori Sato, Ryo Takemura, Kota Fukai, Yoshiki Ishibashi, Suzuka Kato, Ayako Kurihara, Mizuki Sata, Takuma Shibuki, Ayano Takeuchi, Shun Kohsaka, Mitsuaki Sawano, Satoshi Shoji, Yoshikane Izawa, Masahiro Katsumata, Koichi Oki, Shinichi Takahashi, Tsubasa Takizawa, Hiroshi Maruya, Yuji Nishiwaki, Ryo Kawasaki, Akiyoshi Hirayama, Takamasa Ishikawa, Rintaro Saito, Asako Sato, Tomoyoshi Soga, Masahiro Sugimoto, Masaru Tomita, Shohei Komaki, Hideki Ohmomo, Kanako Ono, Yayoi Otsuka-Yamasaki, Atsushi Shimizu, Yoichi Sutoh, Atsushi Hozawa, Kengo Kinoshita, Seizo Koshiba, Kazuki Kumada, Soichi Ogishima, Mika Sakurai-Yageta, Gen Tamiya, Toru Takebayashi

    Journal of epidemiology　34　(8)　393-401　2024/01/06

    DOI： 10.2188/jea.JE20230192 　

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    The Tsuruoka Metabolomics Cohort Study (TMCS) is an ongoing population-based cohort study being conducted in the rural area of Yamagata Prefecture, Japan. This study aimed to enhance the precision prevention of multi-factorial, complex diseases, including non-communicable and aging-associated diseases, by improving risk stratification and prediction measures. At baseline, 11,002 participants aged 35-74 years were recruited in Tsuruoka City, Yamagata Prefecture, Japan, between 2012 and 2015, with an ongoing follow-up survey. Participants underwent various measurements, examinations, tests, and questionnaires on their health, lifestyle, and social factors. This study used an integrative approach with deep molecular profiling to identify potential biomarkers linked to phenotypes that underpin disease pathophysiology and provide better mechanistic insights into social health determinants. The TMCS incorporates multi-omics data, including genetic and metabolomic analyses of 10,933 participants and comprehensive data collection ranging from physical, psychological, behavioral, and social to biological data. The metabolome is used as a phenotypic probe because it is sensitive to changes in physiological and external conditions. The TMCS focuses on collecting outcomes for cardiovascular disease, cancer incidence and mortality, disability, functional decline due to aging and disease sequelae, and the variation in health status within the body represented by omics analysis that lies between exposure and disease. It contains several sub-studies on aging, heated tobacco products, and women's health. This study is notable for its robust design, high participation rate (89%), and long-term repeated surveys. Moreover, it contributes to precision prevention in Japan and East Asia as a well-established multi-omics platform.

  52. The Human Phenotype Ontology in 2024: phenotypes around the world. International-journal Peer-reviewed

    Michael A Gargano, Nicolas Matentzoglu, Ben Coleman, Eunice B Addo-Lartey, Anna V Anagnostopoulos, Joel Anderton, Paul Avillach, Anita M Bagley, Eduard Bakštein, James P Balhoff, Gareth Baynam, Susan M Bello, Michael Berk, Holli Bertram, Somer Bishop, Hannah Blau, David F Bodenstein, Pablo Botas, Kaan Boztug, Jolana Čady, Tiffany J Callahan, Rhiannon Cameron, Seth J Carbon, Francisco Castellanos, J Harry Caufield, Lauren E Chan, Christopher G Chute, Jaime Cruz-Rojo, Noémi Dahan-Oliel, Jon R Davids, Maud de Dieuleveult, Vinicius de Souza, Bert B A de Vries, Esther de Vries, J Raymond DePaulo, Beata Derfalvi, Ferdinand Dhombres, Claudia Diaz-Byrd, Alexander J M Dingemans, Bruno Donadille, Michael Duyzend, Reem Elfeky, Shahim Essaid, Carolina Fabrizzi, Giovanna Fico, Helen V Firth, Yun Freudenberg-Hua, Janice M Fullerton, Davera L Gabriel, Kimberly Gilmour, Jessica Giordano, Fernando S Goes, Rachel Gore Moses, Ian Green, Matthias Griese, Tudor Groza, Weihong Gu, Julia Guthrie, Benjamin Gyori, Ada Hamosh, Marc Hanauer, Kateřina Hanušová, Yongqun Oliver He, Harshad Hegde, Ingo Helbig, Kateřina Holasová, Charles Tapley Hoyt, Shangzhi Huang, Eric Hurwitz, Julius O B Jacobsen, Xiaofeng Jiang, Lisa Joseph, Kamyar Keramatian, Bryan King, Katrin Knoflach, David A Koolen, Megan L Kraus, Carlo Kroll, Maaike Kusters, Markus S Ladewig, David Lagorce, Meng-Chuan Lai, Pablo Lapunzina, Bryan Laraway, David Lewis-Smith, Xiarong Li, Caterina Lucano, Marzieh Majd, Mary L Marazita, Victor Martinez-Glez, Toby H McHenry, Melvin G McInnis, Julie A McMurry, Michaela Mihulová, Caitlin E Millett, Philip B Mitchell, Veronika Moslerová, Kenji Narutomi, Shahrzad Nematollahi, Julian Nevado, Andrew A Nierenberg, Nikola Novák Čajbiková, John I Nurnberger Jr, Soichi Ogishima, Daniel Olson, Abigail Ortiz, Harry Pachajoa, Guiomar Perez de Nanclares, Amy Peters, Tim Putman, Christina K Rapp, Ana Rath, Justin Reese, Lauren Rekerle, Angharad M Roberts, Suzy Roy, Stephan J Sanders, Catharina Schuetz, Eva C Schulte, Thomas G Schulze, Martin Schwarz, Katie Scott, Dominik Seelow, Berthold Seitz, Yiping Shen, Morgan N Similuk, Eric S Simon, Balwinder Singh, Damian Smedley, Cynthia L Smith, Jake T Smolinsky, Sarah Sperry, Elizabeth Stafford, Ray Stefancsik, Robin Steinhaus, Rebecca Strawbridge, Jagadish Chandrabose Sundaramurthi, Polina Talapova, Jair A Tenorio Castano, Pavel Tesner, Rhys H Thomas, Audrey Thurm, Marek Turnovec, Marielle E van Gijn, Nicole A Vasilevsky, Markéta Vlčková, Anita Walden, Kai Wang, Ron Wapner, James S Ware, Addo A Wiafe, Samuel A Wiafe, Lisa D Wiggins, Andrew E Williams, Chen Wu, Margot J Wyrwoll, Hui Xiong, Nefize Yalin, Yasunori Yamamoto, Lakshmi N Yatham, Anastasia K Yocum, Allan H Young, Zafer Yüksel, Peter P Zandi, Andreas Zankl, Ignacio Zarante, Miroslav Zvolský, Sabrina Toro, Leigh C Carmody, Nomi L Harris, Monica C Munoz-Torres, Daniel Danis, Christopher J Mungall, Sebastian Köhler, Melissa A Haendel, Peter N Robinson

    Nucleic acids research　52　(D1)　D1333-D1346　2024/01/05

    DOI： 10.1093/nar/gkad1005 　

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    The Human Phenotype Ontology (HPO) is a widely used resource that comprehensively organizes and defines the phenotypic features of human disease, enabling computational inference and supporting genomic and phenotypic analyses through semantic similarity and machine learning algorithms. The HPO has widespread applications in clinical diagnostics and translational research, including genomic diagnostics, gene-disease discovery, and cohort analytics. In recent years, groups around the world have developed translations of the HPO from English to other languages, and the HPO browser has been internationalized, allowing users to view HPO term labels and in many cases synonyms and definitions in ten languages in addition to English. Since our last report, a total of 2239 new HPO terms and 49235 new HPO annotations were developed, many in collaboration with external groups in the fields of psychiatry, arthrogryposis, immunology and cardiology. The Medical Action Ontology (MAxO) is a new effort to model treatments and other measures taken for clinical management. Finally, the HPO consortium is contributing to efforts to integrate the HPO and the GA4GH Phenopacket Schema into electronic health records (EHRs) with the goal of more standardized and computable integration of rare disease data in EHRs.

  53. Effect of Nicotinamide Mononucleotide Concentration in Human Milk on Neurodevelopmental Outcome: The Tohoku Medical Megabank Project Birth and Three-Generation Cohort Study. International-journal Peer-reviewed

    Yoshie Saito, Keigo Sato, Shinji Jinno, Yoshitaka Nakamura, Takahiro Nobukuni, Soichi Ogishima, Satoshi Mizuno, Seizo Koshiba, Shinichi Kuriyama, Kinuko Ohneda, Masashi Morifuji

    Nutrients　16　(1)　145　2023/12/31

    DOI： 10.3390/nu16010145 　

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    (1) Background: Breast milk is the only source of nutrition for breastfed infants, but few studies have examined the relationship between breast milk micronutrients and infant neurodevelopmental outcome in exclusively breastfed infants. The aim of this study was to characterize the association between nicotinamide adenine dinucleotide (NAD)-related compounds in the breast milk of Japanese subjects and infant neurodevelopmental outcome. (2) Methods: A total of 150 mother-child pairs were randomly selected from the three-generation cohort of the Tohoku Medical Megabank in Japan. Infants were exclusively breastfed for up to 6 months. Breast milk was collected at 1 month postpartum, and the quantity of NAD-related substances in the breast milk was quantified. The mothers also completed developmental questionnaires at 6, 12, and 24 months. The relationship between the concentration of NAD-related substances in breast milk and developmental indicators was evaluated via ordinal logistic regression analysis. (3) Results: Nicotinamide mononucleotide (NMN) was quantified as the major NAD precursor in breast milk. The median amount of NMN in the breast milk was 9.2 μM. The NMN concentration in breast milk was the only NAD-related substance in breast milk that showed a significant positive correlation with neurodevelopmental outcome in infants at 24 months. (4) Conclusions: The results suggest that NMN in human milk may be an important nutrient for early childhood development.

  54. Influence of Diabetes Family History on the Associations of Combined Genetic and Lifestyle Risks with Diabetes in the Tohoku Medical Megabank Community-Based Cohort Study. Peer-reviewed

    Masato Takase, Naoki Nakaya, Tomohiro Nakamura, Mana Kogure, Rieko Hatanaka, Kumi Nakaya, Ippei Chiba, Ikumi Kanno, Kotaro Nochioka, Naho Tsuchiya, Takumi Hirata, Akira Narita, Taku Obara, Mami Ishikuro, Akira Uruno, Tomoko Kobayashi, Eiichi N Kodama, Yohei Hamanaka, Masatsugu Orui, Soichi Ogishima, Satoshi Nagaie, Nobuo Fuse, Junichi Sugawara, Shinichi Kuriyama, Ichiro Tsuji, Gen Tamiya, Atsushi Hozawa, Masayuki Yamamoto

    Journal of atherosclerosis and thrombosis　30　(12)　1905-1916　2023/12/01

    DOI： 10.5551/jat.64425 　

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    AIM: The influence of family history of diabetes, probably reflecting genetic and lifestyle factors, on the association of combined genetic and lifestyle risks with diabetes is unknown. We examined these associations. METHODS: This cross-sectional study included 9,681 participants in the Tohoku Medical Megabank Community-based Cohort Study. A lifestyle score, which was categorized into ideal, intermediate, and poor lifestyles, was given. Family history was obtained through a self-reported questionnaire. A polygenic risk score (PRS) was constructed in the target data (n=1,936) using publicly available genome-wide association study summary statistics from BioBank Japan. For test data (n=7,745), we evaluated PRS performance and examined the associations of combined family history and genetic and lifestyle risks with diabetes. Diabetes was defined as non-fasting blood glucose ≥ 200 mmHg, HbA1c ≥ 6.5%, and/or self-reported diabetes treatment. RESULTS: In test data, 467 (6.0%) participants had diabetes. Compared with a low genetic risk and an ideal lifestyle without a family history, the odds ratio (OR) was 3.73 (95% confidence interval [CI], 1.92-7.00) for a lower genetic risk and a poor lifestyle without a family history. Family history was significantly associated with diabetes (OR, 3.58 [95% CI, 1.73-6.98]), even in those with a low genetic risk and an ideal lifestyle. Even among participants who had an ideal lifestyle without a family history, a high genetic risk was associated with diabetes (OR, 2.49 [95% CI, 1.65-3.85]). Adding PRS to family history and conventional lifestyle risk factors improved the prediction ability for diabetes. CONCLUSIONS: Our findings support the notion that a healthy lifestyle is important to prevent diabetes regardless of genetic risk.

  55. Association of Central Blood Pressure and Carotid Intima Media Thickness with New-Onset Hypertension in People with High Normal Blood Pressure. Peer-reviewed

    Sayuri Tokioka, Naoki Nakaya, Kumi Nakaya, Masato Takase, Mana Kogure, Rieko Hatanaka, Ippei Chiba, Ikumi Kanno, Kotaro Nochioka, Hirohito Metoki, Takahisa Murakami, Michihiro Satoh, Tomohiro Nakamura, Taku Obara, Yohei Hamanaka, Tomoko Kobayashi, Akira Uruno, Junichi Sugawara, Eiichi N Kodama, Soichi Ogishima, Yoko Izumi, Nobuo Fuse, Shinichi Kuriyama, Ichiro Tsuji, Atsushi Hozawa

    Journal of atherosclerosis and thrombosis　30　(12)　1950-1965　2023/12/01

    DOI： 10.5551/jat.64151 　

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    AIM: People with high normal blood pressure (BP) have a higher risk of cardiovascular events than those with normal BP; therefore, progression to hypertension (HT) should be prevented. We aimed to assess the HT risk using central BP and carotid intima media thickness (CIMT) in people with high normal BP. METHODS: This prospective cohort study used the Tohoku Medical Megabank Community-Based Project Cohort Study (conducted from 2013 in Miyagi Prefecture in Japan). The participants had a high normal BP, defined as a systolic BP of 120-139 mmHg and diastolic BP ＜90 mmHg using brachial BP measurement during the baseline survey. The outcome was new-onset HT during the secondary survey, conducted four years after the baseline survey. RESULTS: Overall, 4,021 participants with high normal BP during the baseline survey, with an average age of 58.7 years, were included; 1,030 (26%) were diagnosed with new-onset HT during the secondary survey, 3.5± 0.7 years after the baseline survey. The multivariable odds ratio (95% confidence interval) for HT in the highest versus lowest quartile of central BP was 1.7 (1.2-2.4, p=0.0030), and that of CIMT was 1.8 (1.4-2.4, p＜0.001). Subgroup analysis according to age (＜60 and ≥ 60 years) and sex revealed that the central BP was influential in groups with younger age and female individuals; CIMT was influential in all groups. CONCLUSIONS: Higher central BP and thicker CIMT at the baseline were correlated with new-onset HT in individuals with high normal BP, independent of brachial systolic BP and other cardiovascular risk factors.

  56. The association between depressive symptoms and masked hypertension in participants with normotension measured at research center. International-journal Peer-reviewed

    Sayuri Tokioka, Naoki Nakaya, Kumi Nakaya, Mana Kogure, Rieko Hatanaka, Ippei Chiba, Ikumi Kanno, Kotaro Nochioka, Hirohito Metoki, Takahisa Murakami, Michihiro Satoh, Tomohiro Nakamura, Mami Ishikuro, Taku Obara, Yohei Hamanaka, Masatsugu Orui, Tomoko Kobayashi, Akira Uruno, Eiichi N Kodama, Satoshi Nagaie, Soichi Ogishima, Yoko Izumi, Nobuo Fuse, Shinichi Kuriyama, Atsushi Hozawa

    Hypertension research　47　586-597　2023/10/31

    DOI： 10.1038/s41440-023-01484-8 　

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    Masked hypertension is a risk factor for cardiovascular diseases. However, masked hypertension is sometimes overlooked owing to the requirement for home blood pressure measurements for diagnosing. Mental status influences blood pressure. To reduce undiagnosed masked hypertension, this study assessed the association between depressive symptoms and masked hypertension. This cross-sectional study used data from the Tohoku Medical Megabank Project Community-Based Cohort Study (conducted in Miyagi Prefecture, Japan, from 2013) and included participants with normotension measured at the research center (systolic blood pressure<140 mmHg and diastolic blood pressure <90 mmHg). Depressive symptoms were assessed using the Center for Epidemiologic Studies Depression Scale (Japanese version). Masked hypertension was defined as normotension measured at the research center and home hypertension (home systolic blood pressure ≥135 mmHg or home diastolic blood pressure ≥85 mmHg). The study comprised 6705 participants (mean age: 55.7 ± 13.7 years). Of these participants, 1106 (22.1%) without depressive symptoms and 393 (23.2%) with depressive symptoms were categorized to have masked hypertension. Sex-specific and age-adjusted least mean squares for home blood pressure, not for research blood pressure were significantly higher in the group with depressive symptoms in both sex categories. The multivariate odds ratio for masked hypertension in the patients with depressive symptoms was 1.72 (95% confidence interval: 1.26-2.34) in male participants and 1.30 (95% confidence interval: 1.06-1.59) in female ones. Depressive symptoms were associated with masked hypertension in individuals with normotension measured at the research center. Depressive symptoms may be one of the risk factors for masked hypertension. Depressive symptoms were associated with masked hypertension in individuals with normotension measured at research center.

  57. Association Between Olfactory Test Data with Multiple Levels of Odor Intensity and Suspected Cognitive Impairment: A Cross-Sectional Study. International-journal Peer-reviewed

    Shuichi Sato, Takao Imaeda, Shunji Mugikura, Naoko Mori, Masaki Takanashi, Kazumi Hayakawa, Tomo Saito, Makiko Taira, Akira Narita, Mana Kogure, Ippei Chiba, Rieko Hatanaka, Kumi Nakaya, Ikumi Kanno, Ryosuke Ishiwata, Tomohiro Nakamura, Ikuko N Motoike, Naoki Nakaya, Seizo Koshiba, Kengo Kinoshita, Shinichi Kuriyama, Soichi Ogishima, Fuji Nagami, Nobuo Fuse, Atsushi Hozawa

    Journal of Alzheimer's disease : JAD　95　(4)　1469-1480　2023/09/11

    DOI： 10.3233/JAD-230318 　

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    BACKGROUND: Olfactory function decline has recently been reported to be associated with a risk of cognitive impairment. Few population-based studies have included younger adults when examining the association between olfactory test data with multiple odor intensities and suspected cognitive impairment. OBJECTIVE: We investigated the association between high-resolution olfactory test data with fewer odors and suspected cognitive impairments. We also examined the differences between older and younger adults in this association. METHODS: The Japanese version of the Montreal Cognitive Assessment (MoCA-J) was administered to 1,450 participants, with three odor-intensity-level olfactometry using six different odors. Logistic regressions to discriminate suspected cognitive impairment were conducted to examine the association, adjusted for age, sex, education duration, and smoking history. Data were collected from the Program by Tohoku University Tohoku Medical Megabank Organization, with an additional olfactory test conducted between 2019 and 2021. RESULTS: We generally observed that the lower the limit of distinguishable odor intensity was, the higher the MoCA-J score was. The combination of spearmint and stuffy socks contributed most to the distinction between suspected and unsuspected cognitive impairment. Furthermore, the association was significant in women aged 60-74 years (adjusted odds ratio 0.881, 95% confidence interval [0.790, 0.983], p = 0.024). CONCLUSIONS: The results indicate an association between the limit of distinguishable odor intensity and cognitive function. The olfactory test with multiple odor intensity levels using fewer odors may be applicable for the early detection of mild cognitive impairment, especially in older women aged 60-74 years.

  58. Establishment of the early prediction models of low-birth-weight reveals influential genetic and environmental factors: a prospective cohort study. International-journal Peer-reviewed

    Satoshi Mizuno, Satoshi Nagaie, Gen Tamiya, Shinichi Kuriyama, Taku Obara, Mami Ishikuro, Hiroshi Tanaka, Kengo Kinoshita, Junichi Sugawara, Masayuki Yamamoto, Nobuo Yaegashi, Soichi Ogishima

    BMC pregnancy and childbirth　23　(1)　628-628　2023/08/31

    DOI： 10.1186/s12884-023-05919-5 　

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    BACKGROUND: Low birth weight (LBW) is a leading cause of neonatal morbidity and mortality, and increases various disease risks across life stages. Prediction models of LBW have been developed before, but have limitations including small sample sizes, absence of genetic factors and no stratification of neonate into preterm and term birth groups. In this study, we challenged the development of early prediction models of LBW based on environmental and genetic factors in preterm and term birth groups, and clarified influential variables for LBW prediction. METHODS: We selected 22,711 neonates, their 21,581 mothers and 8,593 fathers from the Tohoku Medical Megabank Project Birth and Three-Generation cohort study. To establish early prediction models of LBW for preterm birth and term birth groups, we trained AI-based models using genetic and environmental factors of lifestyles. We then clarified influential environmental and genetic factors for predicting LBW in the term and preterm groups. RESULTS: We identified 2,327 (10.22%) LBW neonates consisting of 1,077 preterm births and 1,248 term births. Our early prediction models archived the area under curve 0.96 and 0.95 for term LBW and preterm LBW models, respectively. We revealed that environmental factors regarding eating habits and genetic features related to fetal growth were influential for predicting LBW in the term LBW model. On the other hand, we identified that genomic features related to toll-like receptor regulations and infection reactions are influential genetic factors for prediction in the preterm LBW model. CONCLUSIONS: We developed precise early prediction models of LBW based on lifestyle factors in the term birth group and genetic factors in the preterm birth group. Because of its accuracy and generalisability, our prediction model could contribute to risk assessment of LBW in the early stage of pregnancy and control LBW risk in the term birth group. Our prediction model could also contribute to precise prediction of LBW based on genetic factors in the preterm birth group. We then identified parental genetic and maternal environmental factors during pregnancy influencing LBW prediction, which are major targets for understanding the LBW to address serious burdens on newborns' health throughout life.

  59. Association between low levels of anti-inflammatory cytokines during pregnancy and postpartum depression. International-journal Peer-reviewed

    Chiaki T Ono, Zhiqian Yu, Taku Obara, Mami Ishikuro, Keiko Murakami, Masahiro Kikuya, Saya Kikuchi, Natsuko Kobayashi, Hisaaki Kudo, Soichi Ogishima, Naoko Minegishi, Junichi Sugawara, Shinichi Kuriyama, Masayuki Yamamoto, Nobuo Yaegashi, Hiroaki Tomita

    Psychiatry and clinical neurosciences　77　(8)　434-441　2023/08

    DOI： 10.1111/pcn.13566 　

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    AIM: Previous studies based on a relatively limited number of subjects have indicated potential associations between plasma cytokine concentrations in perinatal women and postpartum depression (PPD). This report aimed to examine alterations in cytokine levels during pregnancy and after delivery by measuring nine cytokines in prenatal and postnatal plasma samples in a large cohort. METHODS: A nested, case-control study was conducted using plasma samples from 247 women with PPD (Edinburgh Postnatal Depression Scale: EPDS ≥9) and 243 age-matched control (EPDS ≤2) women from among perinatal women who participated in the Tohoku Medical Megabank three-generation cohort. Concentrations of nine plasma cytokines (IFN-γ, IL-1β, IL-4, IL-6, IL-10, IL-12p40, IL-12p70, IL-13, and TNF-α) in plasma collected at the time of enrollment during pregnancy and one month after delivery were determined using an immunoassay kit. RESULTS: Cross-sectional comparisons of cytokine levels during pregnancy and after delivery indicated that the PPD group maintained significantly lower plasma IL-4 levels during pregnancy and after delivery than the control group, and that plasma IL-4 levels decreased significantly during pregnancy regardless of PPD status. Plasma IL-10 levels were significantly higher during pregnancy than after delivery only among healthy controls, and plasma IL-10 levels were significantly higher in the control group than in the PPD group. Moreover, IFN-γ, IL-6, IL-12p40, and TNF-α levels were significantly lower during pregnancy compared with after delivery regardless of PPD status. CONCLUSIONS AND RELEVANCE: These results suggest a potential protective effect of the anti-inflammatory cytokines IL-4 and IL-10 during pregnancy against the development of PPD. This article is protected by copyright. All rights reserved.

  60. Tohoku Medical Megabank Brain Magnetic Resonance Imaging Study: Rationale, Design, and Background. Peer-reviewed

    Makiko Taira, Shunji Mugikura, Naoko Mori, Atsushi Hozawa, Tomo Saito, Tomohiro Nakamura, Hideyasu Kiyomoto, Tadao Kobayashi, Soichi Ogishima, Fuji Nagami, Akira Uruno, Ritsuko Shimizu, Tomoko Kobayashi, Jun Yasuda, Shigeo Kure, Miyuki Sakurai, Ikuko N Motoike, Kazuki Kumada, Naoki Nakaya, Taku Obara, Kentaro Oba, Atsushi Sekiguchi, Benjamin Thyreau, Tatsushi Mutoh, Yuji Takano, Mitsunari Abe, Norihide Maikusa, Yasuko Tatewaki, Yasuyuki Taki, Nobuo Yaegashi, Hiroaki Tomita, Kengo Kinoshita, Shinichi Kuriyama, Nobuo Fuse, Masayuki Yamamoto

    JMA journal　6　(3)　246-264　2023/07/14

    Publisher: Japan Medical Association

    DOI： 10.31662/jmaj.2022-0220 　

    ISSN： 2433-328X

    eISSN： 2433-3298

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    The Tohoku Medical Megabank Brain Magnetic Resonance Imaging Study (TMM Brain MRI Study) was established to collect multimodal information through neuroimaging and neuropsychological assessments to evaluate the cognitive function and mental health of residents who experienced the Great East Japan Earthquake (GEJE) and associated tsunami. The study also aimed to promote advances in personalized healthcare and medicine related to mental health and cognitive function among the general population. We recruited participants for the first (baseline) survey starting in July 2014, enrolling individuals who were participating in either the TMM Community-Based Cohort Study (TMM CommCohort Study) or the TMM Birth and Three-Generation Cohort Study (TMM BirThree Cohort Study). We collected multiple magnetic resonance imaging (MRI) sequences, including 3D T1-weighted sequences, magnetic resonance angiography (MRA), diffusion tensor imaging (DTI), pseudo-continuous arterial spin labeling (pCASL), and three-dimensional fluid-attenuated inversion recovery (FLAIR) sequences. To assess neuropsychological status, we used both questionnaire- and interview-based rating scales. The former assessments included the Tri-axial Coping Scale, Impact of Event Scale in Japanese, Profile of Mood States, and 15-item Depression, Anxiety, and Stress Scale, whereas the latter assessments included the Mini-Mental State Examination, Japanese version. A total of 12,164 individuals were recruited for the first (baseline) survey, including those unable to complete all assessments. In parallel, we returned the MRI results to the participants and subsequently shared the MRI data through the TMM Biobank. At present, the second (first follow-up) survey of the study started in October 2019 is underway. In this study, we established a large and comprehensive database that included robust neuroimaging data as well as psychological and cognitive assessment data. In combination with genomic and omics data already contained in the TMM Biobank database, these data could provide new insights into the relationships of pathological processes with neuropsychological disorders, including age-related cognitive impairment.

  61. Comprehensive evaluation of machine learning algorithms for predicting sleep-wake conditions and differentiating between the wake conditions before and after sleep during pregnancy based on heart rate variability. International-journal Peer-reviewed

    Xue Li, Chiaki Ono, Noriko Warita, Tomoka Shoji, Takashi Nakagawa, Hitomi Usukura, Zhiqian Yu, Yuta Takahashi, Kei Ichiji, Norihiro Sugita, Natsuko Kobayashi, Saya Kikuchi, Ryoko Kimura, Yumiko Hamaie, Mizuki Hino, Yasuto Kunii, Keiko Murakami, Mami Ishikuro, Taku Obara, Tomohiro Nakamura, Fuji Nagami, Takako Takai, Soichi Ogishima, Junichi Sugawara, Tetsuro Hoshiai, Masatoshi Saito, Gen Tamiya, Nobuo Fuse, Susumu Fujii, Masaharu Nakayama, Shinichi Kuriyama, Masayuki Yamamoto, Nobuo Yaegashi, Noriyasu Homma, Hiroaki Tomita

    Frontiers in psychiatry　14　1104222-1104222　2023/06/06

    DOI： 10.3389/fpsyt.2023.1104222 　

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    INTRODUCTION: Perinatal women tend to have difficulties with sleep along with autonomic characteristics. This study aimed to identify a machine learning algorithm capable of achieving high accuracy in predicting sleep-wake conditions and differentiating between the wake conditions before and after sleep during pregnancy based on heart rate variability (HRV). METHODS: Nine HRV indicators (features) and sleep-wake conditions of 154 pregnant women were measured for 1 week, from the 23rd to the 32nd weeks of pregnancy. Ten machine learning and three deep learning methods were applied to predict three types of sleep-wake conditions (wake, shallow sleep, and deep sleep). In addition, the prediction of four conditions, in which the wake conditions before and after sleep were differentiated-shallow sleep, deep sleep, and the two types of wake conditions-was also tested. RESULTS AND DISCUSSION: In the test for predicting three types of sleep-wake conditions, most of the algorithms, except for Naïve Bayes, showed higher areas under the curve (AUCs; 0.82-0.88) and accuracy (0.78-0.81). The test using four types of sleep-wake conditions with differentiation between the wake conditions before and after sleep also resulted in successful prediction by the gated recurrent unit with the highest AUC (0.86) and accuracy (0.79). Among the nine features, seven made major contributions to predicting sleep-wake conditions. Among the seven features, "the number of interval differences of successive RR intervals greater than 50 ms (NN50)" and "the proportion dividing NN50 by the total number of RR intervals (pNN50)" were useful to predict sleep-wake conditions unique to pregnancy. These findings suggest alterations in the vagal tone system specific to pregnancy.

  62. Reduced antiviral seropositivity among patients with inflammatory bowel disease treated with immunosuppressive agents. International-journal Peer-reviewed

    Hisashi Shiga, Takahiro Takahashi, Manabu Shiraki, Yasuhiro Kojima, Tsuyotoshi Tsuji, Sho Takagi, Keiichiro Hiramoto, Naonobu Yokoyama, Mikako Sugimura, Masahiro Iwabuchi, Katsuya Endo, Motoyuki Onodera, Yuichirou Sato, Yosuke Shimodaira, Eiki Nomura, Tatsuya Kikuchi, Hirofumi Chiba, Shinya Oomori, Hisaaki Kudo, Kazuki Kumada, Satoshi Nagaie, Soichi Ogishima, Fuji Nagami, Yusuke Shimoyama, Rintaro Moroi, Masatake Kuroha, Yoichi Kakuta, Takashi Ishige, Yoshitaka Kinouchi, Atsushi Masamune

    Scandinavian journal of gastroenterology　58　(4)　360-367　2023/04

    DOI： 10.1080/00365521.2022.2132831 　

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    BACKGROUND: Although live-attenuated vaccines are contraindicated under immunosuppression, the immune status of patients with inflammatory bowel disease (IBD) has not been fully assessed prior to immunosuppressive therapy. AIMS: To investigate antiviral serostatus against viruses requiring live vaccines for prevention in IBD patients undergoing immunosuppressive therapy. METHODS: This multicenter study included IBD patients who were aged <40 years and were treated with thiopurine monotherapy, molecular-targeted monotherapy, or combination therapy. Gender- and age-matched healthy subjects (HS) living in the same areas were included as control group. Antibody titers against measles, rubella, mumps, and varicella were measured by enzyme-linked immunosorbent assays. RESULTS: A total of 437 IBD patients (163 ulcerative colitis [UC] and 274 Crohn's disease [CD]) and 225 HS were included in the final analysis. Compared with HS, IBD patients had lower seropositivity rates for measles (IBD vs. HS = 83.91% vs. 85.33%), rubella (77.55% vs. 84.89%), mumps (37.50% vs. 37.78%), and varicella (91.26% vs. 96.44%). Gender- and age-adjusted seropositivity rates were lower in UC patients than in both CD patients and HS for measles (UC, CD, and HS = 81.60%, 85.29%, and 85.33%), rubella (76.40%, 78.23%, and 84.89%), mumps (27.16%, 43.70%, and 37.78%), and varicella (90.80%, 91.54%, and 96.44%); the difference was significant for all viruses except measles. Divided by the degree of immunosuppression, there were no significant differences in seropositivity rates among IBD patients. CONCLUSIONS: IBD patients, especially those with UC, exhibit reduced seropositivity rates and may benefit from screening prior to the initiation of immunosuppressive therapy.

  63. MMWNを介したAI開発基盤となる医療データ収集システムとAI診療サポートシステムの構築

    横山 悠, 竹田 徳泰, 藤井 進, 中村 直毅, 井戸 敬介, 桐山 卓也, 大槻 昌人, 木川 勉, 荻島 創一, 中澤 徹

    日本眼科学会雑誌　127　(臨増)　249-249　2023/03

    Publisher: (公財)日本眼科学会

    ISSN： 0029-0203

  64. 背景因子とAIS得点を考慮したCES-D陽性の推定有病率の可視化

    松山 崇, 成田 暁, 高梨 昌樹, 小暮 真奈, 佐藤 守一, 中村 智洋, 中根 英雄, 荻島 創一, 長神 風二, 中谷 直樹, 丹野 高三, 今枝 孝夫, 寳澤 篤

    Journal of Epidemiology　33　(Suppl.1)　118-118　2023/02

    Publisher: (一社)日本疫学会

    ISSN： 0917-5040

    eISSN： 1349-9092

  65. 糖尿病指標と嗅覚機能の関連

    佐竹 芽久美, 菅野 郁美, 佐藤 守一, 今枝 孝夫, 高梨 昌樹, 早川 和美, 中谷 久美, 千葉 一平, 小暮 真奈, 畑中 里衣子, 斉藤 智, 中村 智洋, 長神 風二, 荻島 創一, 布施 昇男, 麦倉 俊司, 栗山 進一, 中谷 直樹, 寳澤 篤

    Journal of Epidemiology　33　(Suppl.1)　156-156　2023/02

    Publisher: (一社)日本疫学会

    ISSN： 0917-5040

    eISSN： 1349-9092

  66. Design and Progress of Child Health Assessments at Community Support Centers in the Birth and Three-Generation Cohort Study of the Tohoku Medical Megabank Project. Peer-reviewed

    Tomoko Kobayashi, Mika Kobayashi, Naoko Minegishi, Masahiro Kikuya, Taku Obara, Mami Ishikuro, Chizuru Yamanaka, Tomomi Onuma, Keiko Murakami, Fumihiko Ueno, Aoi Noda, Akira Uruno, Junichi Sugawara, Kichiya Suzuki, Eiichi N Kodama, Yohei Hamanaka, Naho Tsuchiya, Mana Kogure, Naoki Nakaya, Makiko Taira, Mika Sakurai-Yageta, Toru Tamahara, Junko Kawashima, Maki Goto, Akihito Otsuki, Ritsuko Shimizu, Soichi Ogishima, Hiroaki Hashizume, Fuji Nagami, Tomohiro Nakamura, Atsushi Hozawa, Tadao Kobayashi, Nobuo Fuse, Shinichi Kuriyama, Shigeo Kure, Masayuki Yamamoto

    The Tohoku journal of experimental medicine　259　(2)　93-105　2023/01/20

    DOI： 10.1620/tjem.2022.J103 　

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    The Tohoku Medical Megabank Project (TMM) has been conducting a birth and three-generation cohort study (the BirThree Cohort Study). We recruited 73,529 pregnant women and their family members for this cohort study, which included 23,143 newborns and 9,459 of their siblings. We designed and are in the process of conducting three-step health assessments for each newborn at approximately ages of 5, 10 and 16. These health assessments are administered at seven community support centers. Trained genome medical research coordinators conduct physical examinations of and collect biological specimens from each participant. The Sendai Children's Health Square has been established as the headquarters for these child health assessments and is utilized to accumulate knowledge that can facilitate the proper practice of child health assessments. We designed all the relevant health assessments facilities to allow parents and their children to participate in the health assessments concomitantly. Our centers serve as places where child participants and their parents can feel at ease as a result of the implementation of safety measures and child hospitality measures. The TMM BirThree Cohort Study is in the process of conducting strategically detailed health assessments and genome analysis, which can facilitate studies concerning the gene-environment interactions relevant to noncommunicable diseases. Through these operations, our study allows for a significant depth of data to be collected in terms of the number of biospecimens under study and the comprehensiveness of both basic and clinical data alongside relevant family information.

  67. A knowledge representation model for family relationship to three generation Peer-reviewed

    Kazuro Shimokawa, Mami Ishikuro, Taku Obara, Hirohito Metoki, Satoshi Mizuno, Satoshi Nagaie, Masato Nagai, Chizuru Yamanaka, Hiroko Matsubara, Mayumi Kato, Yuki Sato, Soichi Ogishima, Takako Takai, Masahiro Kikuya, Atsushi Hozawa, Fuji Nagami, Shinichi Kuriyama, Takashi Suzuki, Kengo Kinoshita, Masayuki Yamamoto, Hiroshi Tanaka

    Bioinformation　18　(12)　1166-1172　2022/12/31

    Publisher: Biomedical Informatics

    DOI： 10.6026/973206300181166 　

    ISSN： 0973-8894

    eISSN： 0973-2063

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    A system for inputting and storing family information, named “BirThree Enrollment,” was developed to promote a birth and three-generation cohort study (BirThree Cohort Study). In this cohort study, it was necessary to satisfy many operational demands while constantly overwriting and changing input information. Complex kinship information must be quickly and accurately inputed and corrected, and information on those families not yet recruited must be retrieved. For these purposes, many devices are needed, from an input interface to the internal data structure. In the field of genetic statistics, a simple standard expressive form (describe father-child relation and mother-child relation) is used for describing family structure. However, this form doesn't have sufficient information. So we developed a new form in conducting the BirThree Cohort Study. Hence, we expanded the data structure, and constructed the Input control system. Family pedigree information is stored along with initial clinical information, and this enabled the input of all self-reported information to the data base. Operators are able to input this family information before the day is out. As a result, when recruitment is completed, family information will be completed concurrently. Therefore, operators can immediately know certain person's family structure. In this model data correction was improved dramatically, and the system was operated successfully. This study is the first report of the method for storing three generations of family data.

  68. Plasma metabolic disturbances during pregnancy and postpartum in women with depression. International-journal Peer-reviewed

    Zhiqian Yu, Naomi Matsukawa, Daisuke Saigusa, Ikuko N Motoike, Chiaki Ono, Yasunobu Okamura, Tomomi Onuma, Yuta Takahashi, Mai Sakai, Hisaaki Kudo, Taku Obara, Keiko Murakami, Matusyuki Shirota, Saya Kikuchi, Natsuko Kobayashi, Yoshie Kikuchi, Junichi Sugawara, Naoko Minegishi, Soichi Ogishima, Kengo Kinoshita, Masayuki Yamamoto, Nobuo Yaegashi, Shinichi Kuriyama, Seizo Koshiba, Hiroaki Tomita

    iScience　25　(12)　105666-105666　2022/12/22

    DOI： 10.1016/j.isci.2022.105666 　

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    Examining plasma metabolic profiling during pregnancy and postpartum could help clinicians understand the risk factors for postpartum depression (PPD) development. This analysis targeted paired plasma metabolites in mid-late gestational and 1 month postpartum periods in women with (n = 209) or without (n = 222) PPD. Gas chromatogram-mass spectrometry was used to analyze plasma metabolites at these two time points. Among the 170 objected plasma metabolites, principal component analysis distinguished pregnancy and postpartum metabolites but failed to discriminate women with and without PPD. Compared to women without PPD, those with PPD exhibited 37 metabolites with disparate changes during pregnancy and the 1-month postpartum period and an enriched citrate cycle. Machine learning and multivariate statistical analysis identified two or three compounds that could be potential biomarkers for PPD prediction during pregnancy. Our findings suggest metabolic disturbances in women with depression and may help to elucidate metabolic processes associated with PPD development.

  69. Visualization of estimated prevalence of CES-D positivity accounting for background factors and AIS scores. International-journal Peer-reviewed

    Takashi Matsuyama, Akira Narita, Masaki Takanashi, Mana Kogure, Shuichi Sato, Tomohiro Nakamura, Hideo Nakane, Soichi Ogishima, Fuji Nagami, Naoki Nakaya, Kozo Tanno, Takao Imaeda, Atsushi Hozawa

    Scientific reports　12　(1)　17656-17656　2022/10/21

    DOI： 10.1038/s41598-022-22266-1 　

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    Development of methods for population screening is necessary to improve the efficiency of secondary prevention of diseases. Until now, a common cutoff has been used for all people in the data set. However, if big data for health information can be used to modify individual cutoffs according to background factors, it may avoid wasting medical resources. Here we show that the estimated prevalence of the Center for Epidemiologic Studies Depression Scale positivity can be visualized by a heatmap using background factors from epidemiological big data and scores from the Athens Insomnia Scale. We also show that cutoffs based on the estimated prevalence can be used to decrease the number of people screened without decreasing the number of prevalent cases detected. Since this method can be applied to the screening of different outcomes, we believe our work can contribute to the development of efficient screening methods for various diseases.

  70. The GA4GH Phenopacket schema defines a computable representation of clinical data. International-journal Peer-reviewed

    Julius O B Jacobsen, Michael Baudis, Gareth S Baynam, Jacques S Beckmann, Sergi Beltran, Orion J Buske, Tiffany J Callahan, Christopher G Chute, Mélanie Courtot, Daniel Danis, Olivier Elemento, Andrea Essenwanger, Robert R Freimuth, Michael A Gargano, Tudor Groza, Ada Hamosh, Nomi L Harris, Rajaram Kaliyaperumal, Kevin C Kent Lloyd, Aly Khalifa, Peter M Krawitz, Sebastian Köhler, Brian J Laraway, Heikki Lehväslaiho, Leslie Matalonga, Julie A McMurry, Alejandro Metke-Jimenez, Christopher J Mungall, Monica C Munoz-Torres, Soichi Ogishima, Anastasios Papakonstantinou, Davide Piscia, Nikolas Pontikos, Núria Queralt-Rosinach, Marco Roos, Julian Sass, Paul N Schofield, Dominik Seelow, Anastasios Siapos, Damian Smedley, Lindsay D Smith, Robin Steinhaus, Jagadish Chandrabose Sundaramurthi, Emilia M Swietlik, Sylvia Thun, Nicole A Vasilevsky, Alex H Wagner, Jeremy L Warner, Claus Weiland, Melissa A Haendel, Peter N Robinson

    Nature biotechnology　40　(6)　817-820　2022/06

    DOI： 10.1038/s41587-022-01357-4 　

  71. A Pilot Study for Return of Individual Pharmacogenomic Results to Population-Based Cohort Study Participants. Peer-reviewed

    Kinuko Ohneda, Masahiro Hiratsuka, Hiroshi Kawame, Fuji Nagami, Yoichi Suzuki, Kichiya Suzuki, Akira Uruno, Mika Sakurai-Yageta, Yohei Hamanaka, Makiko Taira, Soichi Ogishima, Shinichi Kuriyama, Atsushi Hozawa, Hiroaki Tomita, Naoko Minegishi, Junichi Sugawara, Inaho Danjoh, Tomohiro Nakamura, Tomoko Kobayashi, Yumi Yamaguchi-Kabata, Shu Tadaka, Taku Obara, Eiji Hishimuma, Nariyasu Mano, Masaki Matsuura, Yuji Sato, Masateru Nakasone, Yohei Honkura, Jun Suzuki, Yukio Katori, Yoichi Kakuta, Atsushi Masamune, Yoko Aoki, Masaharu Nakayama, Shigeo Kure, Kengo Kinoshita, Nobuo Fuse, Masayuki Yamamoto

    JMA journal　5　(2)　177-189　2022/04/15

    DOI： 10.31662/jmaj.2021-0156 　

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    Introduction: Pharmacogenomic (PGx) testing results provide valuable information on drug selection and appropriate dosing, maximization of efficacy, and minimization of adverse effects. Although the number of large-scale, next-generation-sequencing-based PGx studies has recently increased, little is known about the risks and benefits of returning PGx results to ostensibly healthy individuals in research settings. Methods: Single-nucleotide variants of three actionable PGx genes, namely, MT-RNR1, CYP2C19, and NUDT15, were returned to 161 participants in a population-based Tohoku Medical Megabank project. Informed consent was obtained from the participants after a seminar on the outline of this study. The results were sent by mail alongside sealed information letter intended for clinicians. As an exception, genetic counseling was performed for the MT-RNR1 m.1555A > G variant carriers by a medical geneticist, and consultation with an otolaryngologist was encouraged. Questionnaire surveys (QSs) were conducted five times to evaluate the participants' understanding of the topic, psychological impact, and attitude toward the study. Results: Whereas the majority of participants were unfamiliar with the term PGx, and none had undergone PGx testing before the study, more than 80% of the participants felt that they could acquire basic PGx knowledge sufficient to understand their genomic results and were satisfied with their potential benefit and use in future prescriptions. On the other hand, some felt that the PGx concepts or terminology was difficult to fully understand and suggested that in-person return of the results was desirable. Conclusions: These results collectively suggest possible benefits of returning preemptive PGx information to ostensibly healthy cohort participants in a research setting.

  72. 東北メディカル・メガバンク計画健康調査における眼軸長のゲノムワイド関連解析 Peer-reviewed

    布施 昇男, 櫻井 美由紀, 元池 育子, 小島 要, 平良 摩紀子, 宇留野 晃, 濱中 洋平, 中村 智洋, 荻島 創一, 寳澤 篤, 栗山 進一, 呉 繁夫, 木下 賢吾, 山本 雅之

    日本眼科学会雑誌　126　(臨増)　216-216　2022/03

    Publisher: (公財)日本眼科学会

    ISSN： 0029-0203

  73. Genome-wide Association Study of Axial Length in Population-based Cohorts in Japan Peer-reviewed

    Nobuo Fuse, Miyuki Sakurai, Ikuko N. Motoike, Kaname Kojima, Takako Takai-Igarashi, Naoki Nakaya, Naho Tsuchiya, Tomohiro Nakamura, Mami Ishikuro, Taku Obara, Akiko Miyazawa, Kei Homma, Keisuke Ido, Makiko Taira, Tomoko Kobayashi, Ritsuko Shimizu, Akira Uruno, Eiichi N. Kodama, Kichiya Suzuki, Yohei Hamanaka, Hiroaki Tomita, Junichi Sugawara, Yoichi Suzuki, Fuji Nagami, Soichi Ogishima, Fumiki Katsuoka, Naoko Minegishi, Atsushi Hozawa, Shinichi Kuriyama, Nobuo Yaegashi, Shigeo Kure, Kengo Kinoshita, Masayuki Yamamoto

    Ophthalmology Science　2　(1)　100113-100113　2022/03

    Publisher: Elsevier BV

    DOI： 10.1016/j.xops.2022.100113 　

    ISSN： 2666-9145

  74. Maternal Baseline Characteristics and Perinatal Outcomes: the Tohoku Medical Megabank Project Birth and Three-Generation Cohort Study. Peer-reviewed

    Junichi Sugawara, Mami Ishikuro, Taku Obara, Tomomi Onuma, Keiko Murakami, Masahiro Kikuya, Fumihiko Ueno, Aoi Noda, Satoshi Mizuno, Tomoko Kobayashi, Yohei Hamanaka, Kichiya Suzuki, Eiichi Kodama, Naho Tsuchiya, Akira Uruno, Yoichi Suzuki, Osamu Tanabe, Hideyasu Kiyomoto, Akito Tsuboi, Atsushi Shimizu, Seizo Koshiba, Naoko Minegishi, Soichi Ogishima, Gen Tamiya, Hirohito Metoki, Atsushi Hozawa, Nobuo Fuse, Kengo Kinoshita, Shigeo Kure, Nobuo Yaegashi, Shinichi Kuriyama, Masayuki Yamamoto

    Journal of epidemiology　32　(2)　69-79　2022/02

    DOI： 10.2188/jea.JE20200338 　

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    BACKGROUND: The Tohoku Medical Megabank Project Birth and Three-Generation Cohort Study was launched in 2013 to evaluate the complex interactions of genetic and environmental factors in multifactorial diseases. The present study describes the maternal baseline profile and perinatal data of participating mothers and infants. METHODS: Expectant mothers living in Miyagi prefecture were recruited from obstetric facilities or affiliated centers between 2013 and 2017. Three sets of self-administered questionnaires were collected, and the medical records were reviewed to obtain precise information about each antenatal visit and each delivery. Biospecimens, including blood, urine, umbilical cord blood, and breast milk, were collected for the study biobank. The baseline maternal sociodemographic characteristics, results of screening tests, and obstetric outcomes were analyzed according to the maternal age group. RESULTS: A total of 23 406 pregnancies involving 23 730 fetuses resulted in 23 143 live births. Younger maternal participants had a tendency toward a higher incidence of threatened abortion and threatened premature labor, while older age groups exhibited a significantly higher rate of low lying placenta, placenta previa, gestational diabetes and hypertensive disorders of pregnancy. CONCLUSIONS: The present study clearly shows the distribution of maternal baseline characteristics and the range of perinatal outcomes according to maternal age group. This cohort study can provide strategic information for creating breakthroughs in the pathophysiology of perinatal, developmental, and noncommunicable diseases by collaborative data visiting or sharing.

  75. Heart Rate Information-Based Machine Learning Prediction of Emotions Among Pregnant Women International-journal Peer-reviewed

    Xue Li, Chiaki Ono, Noriko Warita, Tomoka Shoji, Takashi Nakagawa, Hitomi Usukura, Zhiqian Yu, Yuta Takahashi, Kei Ichiji, Norihiro Sugita, Natsuko Kobayashi, Saya Kikuchi, Yasuto Kunii, Keiko Murakami, Mami Ishikuro, Taku Obara, Tomohiro Nakamura, Fuji Nagami, Takako Takai, Soichi Ogishima, Junichi Sugawara, Tetsuro Hoshiai, Masatoshi Saito, Gen Tamiya, Nobuo Fuse, Shinichi Kuriyama, Masayuki Yamamoto, Nobuo Yaegashi, Noriyasu Homma, Hiroaki Tomita

    Frontiers in Psychiatry　12　799029-799029　2022/01/27

    Publisher: Frontiers Media SA

    DOI： 10.3389/fpsyt.2021.799029 　

    eISSN： 1664-0640

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    In this study, the extent to which different emotions of pregnant women can be predicted based on heart rate-relevant information as indicators of autonomic nervous system functioning was explored using various machine learning algorithms. Nine heart rate-relevant autonomic system indicators, including the coefficient of variation R-R interval (CVRR), standard deviation of all NN intervals (SDNN), and square root of the mean squared differences of successive NN intervals (RMSSD), were measured using a heart rate monitor (MyBeat) and four different emotions including “happy,” as a positive emotion and “anxiety,” “sad,” “frustrated,” as negative emotions were self-recorded on a smartphone application, during 1 week starting from 23rd to 32nd weeks of pregnancy from 85 pregnant women. The k-nearest neighbor (k-NN), support vector machine (SVM), logistic regression (LR), random forest (RF), naïve bayes (NB), decision tree (DT), gradient boosting trees (GBT), stochastic gradient descent (SGD), extreme gradient boosting (XGBoost), and artificial neural network (ANN) machine learning methods were applied to predict the four different emotions based on the heart rate-relevant information. To predict four different emotions, RF also showed a modest area under the receiver operating characteristic curve (AUC-ROC) of 0.70. CVRR, RMSSD, SDNN, high frequency (HF), and low frequency (LF) mostly contributed to the predictions. GBT displayed the second highest AUC (0.69). Comprehensive analyses revealed the benefits of the prediction accuracy of the RF and GBT methods and were beneficial to establish models to predict emotions based on autonomic nervous system indicators. The results implicated SDNN, RMSSD, CVRR, LF, and HF as important parameters for the predictions.

  76. The return of individual genomic results to research participants: design and pilot study of Tohoku Medical Megabank Project. International-journal Peer-reviewed

    Hiroshi Kawame, Akimune Fukushima, Nobuo Fuse, Fuji Nagami, Yoichi Suzuki, Mika Sakurai-Yageta, Jun Yasuda, Yumi Yamaguchi-Kabata, Kengo Kinoshita, Soichi Ogishima, Takako Takai, Shinichi Kuriyama, Atsushi Hozawa, Naoki Nakaya, Tomohiro Nakamura, Naoko Minegishi, Junichi Sugawara, Kichiya Suzuki, Hiroaki Tomita, Akira Uruno, Tomoko Kobayashi, Yayoi Aizawa, Tomoharu Tokutomi, Kayono Yamamoto, Kinuko Ohneda, Shigeo Kure, Yoko Aoki, Hideki Katagiri, Yasushi Ishigaki, Shojiro Sawada, Makoto Sasaki, Masayuki Yamamoto

    Journal of human genetics　67　(1)　9-17　2022/01

    Publisher: Springer Science and Business Media LLC

    DOI： 10.1038/s10038-021-00952-8 　

    ISSN： 1434-5161

    eISSN： 1435-232X

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    Certain large genome cohort studies attempt to return the individual genomic results to the participants; however, the implementation process and psychosocial impacts remain largely unknown. The Tohoku Medical Megabank Project has conducted large genome cohort studies of general residents. To implement the disclosure of individual genomic results, we extracted the potential challenges and obstacles. Major challenges include the determination of genes/disorders based on the current medical system in Japan, the storage of results, prevention of misunderstanding, and collaboration of medical professionals. To overcome these challenges, we plan to conduct multilayer pilot studies, which deal with different disorders/genes. We finally chose familial hypercholesterolemia (FH) as a target disease for the first pilot study. Of the 665 eligible candidates, 33.5% were interested in the pilot study and provided consent after an educational "genetics workshop" on the basic genetics and medical facts of FH. The genetics professionals disclosed the results to the participants. All positive participants were referred to medical care, and a serial questionnaire revealed no significant psychosocial distress after the disclosure. Return of genomic results to research participants was implemented using a well-prepared protocol. To further elucidate the impact of different disorders, we will perform multilayer pilot studies with different disorders, including actionable pharmacogenomics and hereditary tumor syndromes.

  77. dbTMM: an integrated database of large-scale cohort, genome and clinical data for the Tohoku Medical Megabank Project. International-journal Peer-reviewed

    Soichi Ogishima, Satoshi Nagaie, Satoshi Mizuno, Ryosuke Ishiwata, Keita Iida, Kazuro Shimokawa, Takako Takai-Igarashi, Naoki Nakamura, Sachiko Nagase, Tomohiro Nakamura, Naho Tsuchiya, Naoki Nakaya, Keiko Murakami, Fumihiko Ueno, Tomomi Onuma, Mami Ishikuro, Taku Obara, Shunji Mugikura, Hiroaki Tomita, Akira Uruno, Tomoko Kobayashi, Akito Tsuboi, Shu Tadaka, Fumiki Katsuoka, Akira Narita, Mika Sakurai, Satoshi Makino, Gen Tamiya, Yuichi Aoki, Ritsuko Shimizu, Ikuko N Motoike, Seizo Koshiba, Naoko Minegishi, Kazuki Kumada, Takahiro Nobukuni, Kichiya Suzuki, Inaho Danjoh, Fuji Nagami, Kozo Tanno, Hideki Ohmomo, Koichi Asahi, Atsushi Shimizu, Atsushi Hozawa, Shinichi Kuriyama, Nobuo Fuse, Teiji Tominaga, Shigeo Kure, Nobuo Yaegashi, Kengo Kinoshita, Makoto Sasaki, Hiroshi Tanaka, Masayuki Yamamoto

    Human genome variation　8　(1)　44-44　2021/12/10

    DOI： 10.1038/s41439-021-00175-5 　

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    To reveal gene-environment interactions underlying common diseases and estimate the risk for common diseases, the Tohoku Medical Megabank (TMM) project has conducted prospective cohort studies and genomic and multiomics analyses. To establish an integrated biobank, we developed an integrated database called "dbTMM" that incorporates both the individual cohort/clinical data and the genome/multiomics data of 157,191 participants in the Tohoku Medical Megabank project. To our knowledge, dbTMM is the first database to store individual whole-genome data on a variant-by-variant basis as well as cohort/clinical data for over one hundred thousand participants in a prospective cohort study. dbTMM enables us to stratify our cohort by both genome-wide genetic factors and environmental factors, and it provides a research and development platform that enables prospective analysis of large-scale data from genome cohorts.

  78. Genetic loci for lung function in Japanese adults with adjustment for exhaled nitric oxide levels as airway inflammation indicator. International-journal Peer-reviewed

    Mitsuhiro Yamada, Ikuko N Motoike, Kaname Kojima, Nobuo Fuse, Atsushi Hozawa, Shinichi Kuriyama, Fumiki Katsuoka, Shu Tadaka, Matsuyuki Shirota, Miyuki Sakurai, Tomohiro Nakamura, Yohei Hamanaka, Kichiya Suzuki, Junichi Sugawara, Soichi Ogishima, Akira Uruno, Eiichi N Kodama, Naoya Fujino, Tadahisa Numakura, Tomohiro Ichikawa, Ayumi Mitsune, Takashi Ohe, Kengo Kinoshita, Masakazu Ichinose, Hisatoshi Sugiura, Masayuki Yamamoto

    Communications biology　4　(1)　1288-1288　2021/11/15

    DOI： 10.1038/s42003-021-02813-8 　

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    Lung function reflects the ability of the respiratory system and is utilized for the assessment of respiratory diseases. Because type 2 airway inflammation influences lung function, genome wide association studies (GWAS) for lung function would be improved by adjustment with an indicator of the inflammation. Here, we performed a GWAS for lung function with adjustment for exhaled nitric oxide (FeNO) levels in two independent Japanese populations. Our GWAS with genotype imputations revealed that the RNF5/AGER locus including AGER rs2070600 SNP, which introduces a G82S substitution of AGER, was the most significantly associated with FEV1/FVC. Three other rare missense variants of AGER were further identified. We also found genetic loci with three candidate genes (NOS2, SPSB2 and RIPOR2) associated with FeNO levels. Analyses with the BioBank-Japan GWAS resource revealed genetic links of FeNO and asthma-related traits, and existence of common genetic background for allergic diseases and their biomarkers. Our study identified the genetic locus most strongly associated with airway obstruction in the Japanese population and three genetic loci associated with FeNO, an indicator of type 2 airway inflammation in adults.

  79. GA4GH: International policies and standards for data sharing across genomic research and healthcare. International-journal Peer-reviewed

    Heidi L Rehm, Angela J H Page, Lindsay Smith, Jeremy B Adams, Gil Alterovitz, Lawrence J Babb, Maxmillian P Barkley, Michael Baudis, Michael J S Beauvais, Tim Beck, Jacques S Beckmann, Sergi Beltran, David Bernick, Alexander Bernier, James K Bonfield, Tiffany F Boughtwood, Guillaume Bourque, Sarion R Bowers, Anthony J Brookes, Michael Brudno, Matthew H Brush, David Bujold, Tony Burdett, Orion J Buske, Moran N Cabili, Daniel L Cameron, Robert J Carroll, Esmeralda Casas-Silva, Debyani Chakravarty, Bimal P Chaudhari, Shu Hui Chen, J Michael Cherry, Justina Chung, Melissa Cline, Hayley L Clissold, Robert M Cook-Deegan, Mélanie Courtot, Fiona Cunningham, Miro Cupak, Robert M Davies, Danielle Denisko, Megan J Doerr, Lena I Dolman, Edward S Dove, L Jonathan Dursi, Stephanie O M Dyke, James A Eddy, Karen Eilbeck, Kyle P Ellrott, Susan Fairley, Khalid A Fakhro, Helen V Firth, Michael S Fitzsimons, Marc Fiume, Paul Flicek, Ian M Fore, Mallory A Freeberg, Robert R Freimuth, Lauren A Fromont, Jonathan Fuerth, Clara L Gaff, Weiniu Gan, Elena M Ghanaim, David Glazer, Robert C Green, Malachi Griffith, Obi L Griffith, Robert L Grossman, Tudor Groza, Jaime M Guidry Auvil, Roderic Guigó, Dipayan Gupta, Melissa A Haendel, Ada Hamosh, David P Hansen, Reece K Hart, Dean Mitchell Hartley, David Haussler, Rachele M Hendricks-Sturrup, Calvin W L Ho, Ashley E Hobb, Michael M Hoffman, Oliver M Hofmann, Petr Holub, Jacob Shujui Hsu, Jean-Pierre Hubaux, Sarah E Hunt, Ammar Husami, Julius O Jacobsen, Saumya S Jamuar, Elizabeth L Janes, Francis Jeanson, Aina Jené, Amber L Johns, Yann Joly, Steven J M Jones, Alexander Kanitz, Kazuto Kato, Thomas M Keane, Kristina Kekesi-Lafrance, Jerome Kelleher, Giselle Kerry, Seik-Soon Khor, Bartha M Knoppers, Melissa A Konopko, Kenjiro Kosaki, Martin Kuba, Jonathan Lawson, Rasko Leinonen, Stephanie Li, Michael F Lin, Mikael Linden, Xianglin Liu, Isuru Udara Liyanage, Javier Lopez, Anneke M Lucassen, Michael Lukowski, Alice L Mann, John Marshall, Michele Mattioni, Alejandro Metke-Jimenez, Anna Middleton, Richard J Milne, Fruzsina Molnár-Gábor, Nicola Mulder, Monica C Munoz-Torres, Rishi Nag, Hidewaki Nakagawa, Jamal Nasir, Arcadi Navarro, Tristan H Nelson, Ania Niewielska, Amy Nisselle, Jeffrey Niu, Tommi H Nyrönen, Brian D O'Connor, Sabine Oesterle, Soichi Ogishima, Vivian Ota Wang, Laura A D Paglione, Emilio Palumbo, Helen E Parkinson, Anthony A Philippakis, Angel D Pizarro, Andreas Prlic, Jordi Rambla, Augusto Rendon, Renee A Rider, Peter N Robinson, Kurt W Rodarmer, Laura Lyman Rodriguez, Alan F Rubin, Manuel Rueda, Gregory A Rushton, Rosalyn S Ryan, Gary I Saunders, Helen Schuilenburg, Torsten Schwede, Serena Scollen, Alexander Senf, Nathan C Sheffield, Neerjah Skantharajah, Albert V Smith, Heidi J Sofia, Dylan Spalding, Amanda B Spurdle, Zornitza Stark, Lincoln D Stein, Makoto Suematsu, Patrick Tan, Jonathan A Tedds, Alastair A Thomson, Adrian Thorogood, Timothy L Tickle, Katsushi Tokunaga, Juha Törnroos, David Torrents, Sean Upchurch, Alfonso Valencia, Roman Valls Guimera, Jessica Vamathevan, Susheel Varma, Danya F Vears, Coby Viner, Craig Voisin, Alex H Wagner, Susan E Wallace, Brian P Walsh, Marc S Williams, Eva C Winkler, Barbara J Wold, Grant M Wood, J Patrick Woolley, Chisato Yamasaki, Andrew D Yates, Christina K Yung, Lyndon J Zass, Ksenia Zaytseva, Junjun Zhang, Peter Goodhand, Kathryn North, Ewan Birney

    Cell genomics　1　(2)　100029　2021/11/10

    DOI： 10.1016/j.xgen.2021.100029 　

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    The Global Alliance for Genomics and Health (GA4GH) aims to accelerate biomedical advances by enabling the responsible sharing of clinical and genomic data through both harmonized data aggregation and federated approaches. The decreasing cost of genomic sequencing (along with other genome-wide molecular assays) and increasing evidence of its clinical utility will soon drive the generation of sequence data from tens of millions of humans, with increasing levels of diversity. In this perspective, we present the GA4GH strategies for addressing the major challenges of this data revolution. We describe the GA4GH organization, which is fueled by the development efforts of eight Work Streams and informed by the needs of 24 Driver Projects and other key stakeholders. We present the GA4GH suite of secure, interoperable technical standards and policy frameworks and review the current status of standards, their relevance to key domains of research and clinical care, and future plans of GA4GH. Broad international participation in building, adopting, and deploying GA4GH standards and frameworks will catalyze an unprecedented effort in data sharing that will be critical to advancing genomic medicine and ensuring that all populations can access its benefits.

  80. The Data Use Ontology to streamline responsible access to human biomedical datasets. International-journal Peer-reviewed

    Jonathan Lawson, Moran N Cabili, Giselle Kerry, Tiffany Boughtwood, Adrian Thorogood, Pinar Alper, Sarion R Bowers, Rebecca R Boyles, Anthony J Brookes, Matthew Brush, Tony Burdett, Hayley Clissold, Stacey Donnelly, Stephanie O M Dyke, Mallory A Freeberg, Melissa A Haendel, Chihiro Hata, Petr Holub, Francis Jeanson, Aina Jene, Minae Kawashima, Shuichi Kawashima, Melissa Konopko, Irene Kyomugisha, Haoyuan Li, Mikael Linden, Laura Lyman Rodriguez, Mizuki Morita, Nicola Mulder, Jean Muller, Satoshi Nagaie, Jamal Nasir, Soichi Ogishima, Vivian Ota Wang, Laura D Paglione, Ravi N Pandya, Helen Parkinson, Anthony A Philippakis, Fabian Prasser, Jordi Rambla, Kathy Reinold, Gregory A Rushton, Andrea Saltzman, Gary Saunders, Heidi J Sofia, John D Spalding, Morris A Swertz, Ilia Tulchinsky, Esther J van Enckevort, Susheel Varma, Craig Voisin, Natsuko Yamamoto, Chisato Yamasaki, Lyndon Zass, Jaime M Guidry Auvil, Tommi H Nyrönen, Mélanie Courtot

    Cell genomics　1　(2)　100028　2021/11/10

    DOI： 10.1016/j.xgen.2021.100028 　

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    Human biomedical datasets that are critical for research and clinical studies to benefit human health also often contain sensitive or potentially identifying information of individual participants. Thus, care must be taken when they are processed and made available to comply with ethical and regulatory frameworks and informed consent data conditions. To enable and streamline data access for these biomedical datasets, the Global Alliance for Genomics and Health (GA4GH) Data Use and Researcher Identities (DURI) work stream developed and approved the Data Use Ontology (DUO) standard. DUO is a hierarchical vocabulary of human and machine-readable data use terms that consistently and unambiguously represents a dataset's allowable data uses. DUO has been implemented by major international stakeholders such as the Broad and Sanger Institutes and is currently used in annotation of over 200,000 datasets worldwide. Using DUO in data management and access facilitates researchers' discovery and access of relevant datasets. DUO annotations increase the FAIRness of datasets and support data linkages using common data use profiles when integrating the data for secondary analyses. DUO is implemented in the Web Ontology Language (OWL) and, to increase community awareness and engagement, hosted in an open, centralized GitHub repository. DUO, together with the GA4GH Passport standard, offers a new, efficient, and streamlined data authorization and access framework that has enabled increased sharing of biomedical datasets worldwide.

  81. 診療AI開発基盤となる地域医療データの収集システムの構築とAI診療の可能性の検証

    横山 悠, 竹田 徳泰, 藤井 進, 中村 直毅, 井戸 敬介, 桐山 卓也, 大槻 昌人, 木川 勉, 荻島 創一, 中山 雅晴, 中澤 徹

    医療情報学連合大会論文集　41回　531-534　2021/11

    Publisher: (一社)日本医療情報学会

    ISSN： 1347-8508

    eISSN： 2433-698X

  82. GWAS Identified IL4R and the Major Histocompatibility Complex Region as the Associated Loci of Total Serum IgE Levels in 9,260 Japanese Individuals. International-journal Peer-reviewed

    Kosuke Shido, Kaname Kojima, Matsuyuki Shirota, Kenshi Yamasaki, Ikuko N Motoike, Atsushi Hozawa, Soichi Ogishima, Naoko Minegishi, Kozo Tanno, Fumiki Katsuoka, Gen Tamiya, Setsuya Aiba, Masayuki Yamamoto, Kengo Kinoshita

    The Journal of investigative dermatology　141　(11)　2749-2752　2021/11

    Publisher: Elsevier BV

    DOI： 10.1016/j.jid.2021.02.762 　

    ISSN： 0022-202X

  83. Discovery of widespread transcription initiation at microsatellites predictable by sequence-based deep neural network Peer-reviewed

    Mathys Grapotte, Manu Saraswat, Chloé Bessière, Christophe Menichelli, Jordan A. Ramilowski, Jessica Severin, Yoshihide Hayashizaki, Masayoshi Itoh, Michihira Tagami, Mitsuyoshi Murata, Miki Kojima-Ishiyama, Shohei Noma, Shuhei Noguchi, Takeya Kasukawa, Akira Hasegawa, Harukazu Suzuki, Hiromi Nishiyori-Sueki, Martin C. Frith, Imad Abugessaisa, Stuart Aitken, Bronwen L. Aken, Intikhab Alam, Tanvir Alam, Rami Alasiri, Ahmad M. N. Alhendi, Hamid Alinejad-Rokny, Mariano J. Alvarez, Robin Andersson, Takahiro Arakawa, Marito Araki, Taly Arbel, John Archer, Alan L. Archibald, Erik Arner, Peter Arner, Kiyoshi Asai, Haitham Ashoor, Gaby Astrom, Magda Babina, J. Kenneth Baillie, Vladimir B. Bajic, Archana Bajpai, Sarah Baker, Richard M. Baldarelli, Adam Balic, Mukesh Bansal, Arsen O. Batagov, Serafim Batzoglou, Anthony G. Beckhouse, Antonio P. Beltrami, Carlo A. Beltrami, Nicolas Bertin, Sharmodeep Bhattacharya, Peter J. Bickel, Judith A. Blake, Mathieu Blanchette, Beatrice Bodega, Alessandro Bonetti, Hidemasa Bono, Jette Bornholdt, Michael Bttcher, Salim Bougouffa, Mette Boyd, Jeremie Breda, Frank Brombacher, James B. Brown, Carol J. Bult, A. Maxwell Burroughs, Dave W. Burt, Annika Busch, Giulia Caglio, Andrea Califano, Christopher J. Cameron, Carlo V. Cannistraci, Alessandra Carbone, Ailsa J. Carlisle, Piero Carninci, Kim W. Carter, Daniela Cesselli, Jen-Chien Chang, Julie C. Chen, Yun Chen, Marco Chierici, John Christodoulou, Yari Ciani, Emily L. Clark, Mehmet Coskun, Maria Dalby, Emiliano Dalla, Carsten O. Daub, Carrie A. Davis, Michiel J. L. de Hoon, Derek de Rie, Elena Denisenko, Bart Deplancke, Michael Detmar, Ruslan Deviatiiarov, Diego Di Bernardo, Alexander D. Diehl, Lothar C. Dieterich, Emmanuel Dimont, Sarah Djebali, Taeko Dohi, Jose Dostie, Finn Drablos, Albert S. B. Edge, Matthias Edinger, Anna Ehrlund, Karl Ekwall, Arne Elofsson, Mitsuhiro Endoh, Hideki Enomoto, Saaya Enomoto, Mohammad Faghihi, Michela Fagiolini, Mary C. Farach-Carson, Geoffrey J. Faulkner, Alexander Favorov, Ana Miguel Fernandes, Carmelo Ferrai, Alistair R. R. Forrest, Lesley M. Forrester, Mattias Forsberg, Alexandre Fort, Margherita Francescatto, Tom C. Freeman, Martin Frith, Shinji Fukuda, Manabu Funayama, Cesare Furlanello, Masaaki Furuno, Chikara Furusawa, Hui Gao, Iveta Gazova, Claudia Gebhard, Florian Geier, Teunis B. H. Geijtenbeek, Samik Ghosh, Yanal Ghosheh, Thomas R. Gingeras, Takashi Gojobori, Tatyana Goldberg, Daniel Goldowitz, Julian Gough, Dario Greco, Andreas J. Gruber, Sven Guhl, Roderic Guigo, Reto Guler, Oleg Gusev, Stefano Gustincich, Thomas J. Ha, Vanja Haberle, Paul Hale, Bjrn M. Hallstrom, Michiaki Hamada, Lusy Handoko, Mitsuko Hara, Matthias Harbers, Jennifer Harrow, Jayson Harshbarger, Takeshi Hase, Akira Hasegawa, Kosuke Hashimoto, Taku Hatano, Nobutaka Hattori, Ryuhei Hayashi, Yoshihide Hayashizaki, Meenhard Herlyn, Kristina Hettne, Peter Heutink, Winston Hide, Kelly J. Hitchens, Shannon Ho Sui, Peter A. C. ’t Hoen, Chung Chau Hon, Fumi Hori, Masafumi Horie, Katsuhisa Horimoto, Paul Horton, Rui Hou, Edward Huang, Yi Huang, Richard Hugues, David Hume, Hans Ienasescu, Kei Iida, Tomokatsu Ikawa, Toshimichi Ikemura, Kazuho Ikeo, Norihiko Inoue, Yuri Ishizu, Yosuke Ito, Masayoshi Itoh, Anna V. Ivshina, Boris R. Jankovic, Piroon Jenjaroenpun, Rory Johnson, Mette Jorgensen, Hadi Jorjani, Anagha Joshi, Giuseppe Jurman, Bogumil Kaczkowski, Chieko Kai, Kaoru Kaida, Kazuhiro Kajiyama, Rajaram Kaliyaperumal, Eli Kaminuma, Takashi Kanaya, Hiroshi Kaneda, Philip Kapranov, Artem S. Kasianov, Takeya Kasukawa, Toshiaki Katayama, Sachi Kato, Shuji Kawaguchi, Jun Kawai, Hideya Kawaji, Hiroshi Kawamoto, Yuki I. Kawamura, Satoshi Kawasaki, Tsugumi Kawashima, Judith S. Kempfle, Tony J. Kenna, Juha Kere, Levon Khachigian, Hisanori Kiryu, Mami Kishima, Hiroyuki Kitajima, Toshio Kitamura, Hiroaki Kitano, Enio Klaric, Kjetil Klepper, S. Peter Klinken, Edda Kloppmann, Alan J. Knox, Yuichi Kodama, Yasushi Kogo, Miki Kojima, Soichi Kojima, Norio Komatsu, Hiromitsu Komiyama, Tsukasa Kono, Haruhiko Koseki, Shigeo Koyasu, Anton Kratz, Alexander Kukalev, Ivan Kulakovskiy, Anshul Kundaje, Hiroshi Kunikata, Richard Kuo, Tony Kuo, Shigehiro Kuraku, Vladimir A. Kuznetsov, Tae Jun Kwon, Matt Larouche, Timo Lassmann, Andy Law, Kim-Anh Le-Cao, Charles-Henri Lecellier, Weonju Lee, Boris Lenhard, Andreas Lennartsson, Kang Li, Ruohan Li, Berit Lilje, Leonard Lipovich, Marina Lizio, Gonzalo Lopez, Shigeyuki Magi, Gloria K. Mak, Vsevolod Makeev, Riichiro Manabe, Michiko Mandai, Jessica Mar, Kazuichi Maruyama, Taeko Maruyama, Elizabeth Mason, Anthony Mathelier, Hideo Matsuda, Yulia A. Medvedeva, Terrence F. Meehan, Niklas Mejhert, Alison Meynert, Norihisa Mikami, Akiko Minoda, Hisashi Miura, Yohei Miyagi, Atsushi Miyawaki, Yosuke Mizuno, Hiromasa Morikawa, Mitsuru Morimoto, Masaki Morioka, Soji Morishita, Kazuyo Moro, Efthymios Motakis, Hozumi Motohashi, Abdul Kadir Mukarram, Christine L. Mummery, Christopher J. Mungall, Yasuhiro Murakawa, Masami Muramatsu, Mitsuyoshi Murata, Kazunori Nagasaka, Takahide Nagase, Yutaka Nakachi, Fumio Nakahara, Kenta Nakai, Kumi Nakamura, Yasukazu Nakamura, Yukio Nakamura, Toru Nakazawa, Guy P. Nason, Chirag Nepal, Quan Hoang Nguyen, Lars K. Nielsen, Kohji Nishida, Koji M. Nishiguchi, Hiromi Nishiyori, Kazuhiro Nitta, Shuhei Noguchi, Shohei Noma, Cedric Notredame, Soichi Ogishima, Naganari Ohkura, Hiroshi Ohno, Mitsuhiro Ohshima, Takashi Ohtsu, Yukinori Okada, Mariko Okada-Hatakeyama, Yasushi Okazaki, Per Oksvold, Valerio Orlando, Ghim Sion Ow, Mumin Ozturk, Mikhail Pachkov, Triantafyllos Paparountas, Suraj P. Parihar, Sung-Joon Park, Giovanni Pascarella, Robert Passier, Helena Persson, Ingrid H. Philippens, Silvano Piazza, Charles Plessy, Ana Pombo, Fredrik Ponten, Stéphane Poulain, Thomas M. Poulsen, Swati Pradhan, Carolina Prezioso, Clare Pridans, Xiang-Yang Qin, John Quackenbush, Owen Rackham, Jordan Ramilowski, Timothy Ravasi, Michael Rehli, Sarah Rennie, Tiago Rito, Patrizia Rizzu, Christelle Robert, Marco Roos, Burkhard Rost, Filip Roudnicky, Riti Roy, Morten B. Rye, Oxana Sachenkova, Pal Saetrom, Hyonmi Sai, Shinji Saiki, Mitsue Saito, Akira Saito, Shimon Sakaguchi, Mizuho Sakai, Saori Sakaue, Asako Sakaue-Sawano, Albin Sandelin, Hiromi Sano, Yuzuru Sasamoto, Hiroki Sato, Alka Saxena, Hideyuki Saya, Andrea Schafferhans, Sebastian Schmeier, Christian Schmidl, Daniel Schmocker, Claudio Schneider, Marcus Schueler, Erik A. Schultes, Gundula Schulze-Tanzil, Colin A. Semple, Shigeto Seno, Wooseok Seo, Jun Sese, Jessica Severin, Guojun Sheng, Jiantao Shi, Yishai Shimoni, Jay W. Shin, Javier SimonSanchez, Asa Sivertsson, Evelina Sjostedt, Cilla Soderhall, Georges St Laurent, Marcus H. Stoiber, Daisuke Sugiyama, Kim M. Summers, Ana Maria Suzuki, Harukazu Suzuki, Kenji Suzuki, Mikiko Suzuki, Naoko Suzuki, Takahiro Suzuki, Douglas J. Swanson, Rolf K. Swoboda, Michihira Tagami, Ayumi Taguchi, Hazuki Takahashi, Masayo Takahashi, Kazuya Takamochi, Satoru Takeda, Yoichi Takenaka, Kin Tung Tam, Hiroshi Tanaka, Rica Tanaka, Yuji Tanaka, Dave Tang, Ichiro Taniuchi, Andrea Tanzer, Hiroshi Tarui, Martin S. Taylor, Aika Terada, Yasuhisa Terao, Alison C. Testa, Mark Thomas, Supat Thongjuea, Kentaro Tomii, Elena Torlai Triglia, Hiroo Toyoda, H. Gwen Tsang, Motokazu Tsujikawa, Mathias Uhlén, Eivind Valen, Marc van de Wetering, Erik van Nimwegen, Dmitry Velmeshev, Roberto Verardo, Morana Vitezic, Kristoffer Vitting-Seerup, Kalle von Feilitzen, Christian R. Voolstra, Ilya E. Vorontsov, Claes Wahlestedt, Wyeth W. Wasserman, Kazuhide Watanabe, Shoko Watanabe, Christine A. Wells, Louise N. Winteringham, Ernst Wolvetang, Haruka Yabukami, Ken Yagi, Takuji Yamada, Yoko Yamaguchi, Masayuki Yamamoto, Yasutomo Yamamoto, Yumiko Yamamoto, Yasunari Yamanaka, Kojiro Yano, Kayoko Yasuzawa, Yukiko Yatsuka, Masahiro Yo, Shunji Yokokura, Misako Yoneda, Emiko Yoshida, Yuki Yoshida, Masahito Yoshihara, Rachel Young, Robert S. Young, Nancy Y. Yu, Noriko Yumoto, Susan E. Zabierowski, Peter G. Zhang, Silvia Zucchelli, Martin Zwahlen, Clément Chatelain, Piero Carninci, Michiel J. L. de Hoon, Wyeth W. Wasserman, Laurent Bréhélin, Charles-Henri Lecellier

    Nature Communications　12　(1)　3297-3297　2021/06/02

    Publisher: Springer Science and Business Media LLC

    DOI： 10.1038/s41467-021-23143-7 　

    eISSN： 2041-1723

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    <title>Abstract</title>Using the Cap Analysis of Gene Expression (CAGE) technology, the FANTOM5 consortium provided one of the most comprehensive maps of transcription start sites (TSSs) in several species. Strikingly, ~72% of them could not be assigned to a specific gene and initiate at unconventional regions, outside promoters or enhancers. Here, we probe these unassigned TSSs and show that, in all species studied, a significant fraction of CAGE peaks initiate at microsatellites, also called short tandem repeats (STRs). To confirm this transcription, we develop Cap Trap RNA-seq, a technology which combines cap trapping and long read MinION sequencing. We train sequence-based deep learning models able to predict CAGE signal at STRs with high accuracy. These models unveil the importance of STR surrounding sequences not only to distinguish STR classes, but also to predict the level of transcription initiation. Importantly, genetic variants linked to human diseases are preferentially found at STRs with high transcription initiation level, supporting the biological and clinical relevance of transcription initiation at STRs. Together, our results extend the repertoire of non-coding transcription associated with DNA tandem repeats and complexify STR polymorphism.

  84. Novel candidates of pathogenic variants of the BRCA1 and BRCA2 genes from a dataset of 3,552 Japanese whole genomes (3.5KJPNv2). International-journal Peer-reviewed

    Hideki Tokunaga, Keita Iida, Atsushi Hozawa, Soichi Ogishima, Yoh Watanabe, Shogo Shigeta, Muneaki Shimada, Yumi Yamaguchi-Kabata, Shu Tadaka, Fumiki Katsuoka, Shin Ito, Kazuki Kumada, Yohei Hamanaka, Nobuo Fuse, Kengo Kinoshita, Masayuki Yamamoto, Nobuo Yaegashi, Jun Yasuda

    PloS one　16　(1)　e0236907-e0236907　2021/01/11

    Publisher: Public Library of Science (PLoS)

    DOI： 10.1371/journal.pone.0236907 　

    eISSN： 1932-6203

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    Identification of the population frequencies of definitely pathogenic germline variants in two major hereditary breast and ovarian cancer syndrome (HBOC) genes, <italic>BRCA1/2</italic>, is essential to estimate the number of HBOC patients. In addition, the identification of moderately penetrant HBOC gene variants that contribute to increasing the risk of breast and ovarian cancers in a population is critical to establish personalized health care. A prospective cohort subjected to genome analysis can provide both sets of information. Computational scoring and prospective cohort studies may help to identify such likely pathogenic variants in the general population. We annotated the variants in the <italic>BRCA1</italic> and <italic>BRCA2</italic> genes from a dataset of 3,552 whole-genome sequences obtained from members of a prospective cohorts with genome data in the Tohoku Medical Megabank Project (TMM) with InterVar software. Computational impact scores (CADD_phred and Eigen_raw) and minor allele frequencies (MAFs) of pathogenic (P) and likely pathogenic (LP) variants in ClinVar were used for filtration criteria. Familial predispositions to cancers among the 35,000 TMM genome cohort participants were analyzed to verify the identified pathogenicity. Seven potentially pathogenic variants were newly identified. The sisters of carriers of these moderately deleterious variants and definite P and LP variants among members of the TMM prospective cohort showed a statistically significant preponderance for cancer onset, from the self-reported cancer history. Filtering by computational scoring and MAF is useful to identify potentially pathogenic variants in <italic>BRCA</italic> genes in the Japanese population. These results should help to follow up the carriers of variants of uncertain significance in the HBOC genes in the longitudinal prospective cohort study.

  85. Study Profile of the Tohoku Medical Megabank Community-Based Cohort Study. Peer-reviewed

    Atsushi Hozawa, Kozo Tanno, Naoki Nakaya, Tomohiro Nakamura, Naho Tsuchiya, Takumi Hirata, Akira Narita, Mana Kogure, Kotaro Nochioka, Ryohei Sasaki, Nobuyuki Takanashi, Kotaro Otsuka, Kiyomi Sakata, Shinichi Kuriyama, Masahiro Kikuya, Osamu Tanabe, Junichi Sugawara, Kichiya Suzuki, Yoichi Suzuki, Eiichi N Kodama, Nobuo Fuse, Hideyasu Kiyomoto, Hiroaki Tomita, Akira Uruno, Yohei Hamanaka, Hirohito Metoki, Mami Ishikuro, Taku Obara, Tomoko Kobayashi, Kazuyuki Kitatani, Takako Takai-Igarashi, Soichi Ogishima, Mamoru Satoh, Hideki Ohmomo, Akito Tsuboi, Shinichi Egawa, Tadashi Ishii, Kiyoshi Ito, Sadayoshi Ito, Yasuyuki Taki, Naoko Minegishi, Naoto Ishii, Masao Nagasaki, Kazuhiko Igarashi, Seizo Koshiba, Ritsuko Shimizu, Gen Tamiya, Keiko Nakayama, Hozumi Motohashi, Jun Yasuda, Atsushi Shimizu, Tsuyoshi Hachiya, Yuh Shiwa, Teiji Tominaga, Hiroshi Tanaka, Kotaro Oyama, Ryoichi Tanaka, Hiroshi Kawame, Akimune Fukushima, Yasushi Ishigaki, Tomoharu Tokutomi, Noriko Osumi, Tadao Kobayashi, Fuji Nagami, Hiroaki Hashizume, Tomohiko Arai, Yoshio Kawaguchi, Shinichi Higuchi, Masaki Sakaida, Ryujin Endo, Satoshi Nishizuka, Ichiro Tsuji, Jiro Hitomi, Motoyuki Nakamura, Kuniaki Ogasawara, Nobuo Yaegashi, Kengo Kinoshita, Shigeo Kure, Akio Sakai, Seiichiro Kobayashi, Kenji Sobue, Makoto Sasaki, Masayuki Yamamoto

    Journal of epidemiology　31　(1)　65-76　2021/01/05

    DOI： 10.2188/jea.JE20190271 　

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    BACKGROUND: We established a community-based cohort study to assess the long-term impact of the Great East Japan Earthquake on disaster victims and gene-environment interactions on the incidence of major diseases, such as cancer and cardiovascular diseases. METHODS: We asked participants to join our cohort in the health check-up settings and assessment center based settings. Inclusion criteria were aged 20 years or over and living in Miyagi or Iwate Prefecture. We obtained information on lifestyle, effect of disaster, blood, and urine information (Type 1 survey), and some detailed measurements (Type 2 survey), such as carotid echography and calcaneal ultrasound bone mineral density. All participants agreed to measure genome information and to distribute their information widely. RESULTS: As a result, 87,865 gave their informed consent to join our study. Participation rate at health check-up site was about 70%. The participants in the Type 1 survey were more likely to have psychological distress than those in the Type 2 survey, and women were more likely to have psychological distress than men. Additionally, coastal residents were more likely to have higher degrees of psychological distress than inland residents, regardless of sex. CONCLUSION: This cohort comprised a large sample size and it contains information on the natural disaster, genome information, and metabolome information. This cohort also had several detailed measurements. Using this cohort enabled us to clarify the long-term effect of the disaster and also to establish personalized prevention based on genome, metabolome, and other omics information.

  86. Analysis of HLA-G long-read genomic sequences in mother-offspring pairs with preeclampsia. International-journal Peer-reviewed

    Ayako Nishizawa, Kazuki Kumada, Keiko Tateno, Maiko Wagata, Sakae Saito, Fumiki Katsuoka, Satoshi Mizuno, Soichi Ogishima, Masayuki Yamamoto, Jun Yasuda, Junichi Sugawara

    Scientific reports　10　(1)　20027-20027　2020/11/18

    DOI： 10.1038/s41598-020-77081-3 　

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    Preeclampsia is a pregnancy-induced disorder that is characterized by hypertension and is a leading cause of perinatal and maternal-fetal morbidity and mortality. HLA-G is thought to play important roles in maternal-fetal immune tolerance, and the associations between HLA-G gene polymorphisms and the onset of pregnancy-related diseases have been explored extensively. Because contiguous genomic sequencing is difficult, the association between the HLA-G genotype and preeclampsia onset is controversial. In this study, genomic sequences of the HLA-G region (5.2 kb) from 31 pairs of mother-offspring genomic DNA samples (18 pairs from normal pregnancies/births and 13 from preeclampsia births) were obtained by single-molecule real-time sequencing using the PacBio RS II platform. The HLA-G alleles identified in our cohort matched seven known HLA-G alleles, but we also identified two new HLA-G alleles at the fourth-field resolution and compared them with nucleotide sequences from a public database that consisted of coding sequences that cover the 3.1-kb HLA-G gene span. Intriguingly, a potential association between preeclampsia onset and the poly T stretch within the downstream region of the HLA-G*01:01:01:01 allele was found. Our study suggests that long-read sequencing of HLA-G will provide clues for characterizing HLA-G variants that are involved in the pathophysiology of preeclampsia.

  87. 日本語版妊娠高血圧腎症オントロジーの開発

    水野 聖士, 和形 麻衣子, 永家 聖, 八重樫 伸生, 菅原 準一, 荻島 創一

    医療情報学　40　(3)　115-124　2020/11

    Publisher: (一社)日本医療情報学会

    ISSN： 0289-8055

  88. Low birth weight and abnormal pre-pregnancy body mass index were at higher risk for hypertensive disorders of pregnancy. International-journal Peer-reviewed

    Maiko Wagata, Mami Ishikuro, Taku Obara, Masato Nagai, Satoshi Mizuno, Naoki Nakaya, Tomohiro Nakamura, Takumi Hirata, Naho Tsuchiya, Hirohito Metoki, Soichi Ogishima, Atsushi Hozawa, Kengo Kinoshita, Shigeo Kure, Nobuo Yaegashi, Masayuki Yamamoto, Shinichi Kuriyama, Junichi Sugawara

    Pregnancy hypertension　22　119-125　2020/10

    DOI： 10.1016/j.preghy.2020.08.001 　

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    Low birth weight is known to be associated with hypertension, cardiovascular disease and hypertensive disorders of pregnancy (HDP); however, this association might vary by race/ethnicity. This study aimed to clarify the association between women's own birth weight and their subsequent risk for HDP in a Japanese population, in combination with pre-pregnancy body mass index (BMI). We conducted a cohort study as part of the Tohoku Medical Megabank Birth and Three-Generation Cohort Study in Miyagi, Japan. Our study's population included 4810 women. A multivariate logistic regression analysis was performed to calculate the adjusted odds ratio (aOR) and the 95% confidence interval (CI) of the women's own birth weight for HDP, in the combination categories of birth weight and pre-pregnancy BMI. As a result, the group with a low birth weight of <2500 g had a significant association with HDP (the aOR, 1.50; 95% CI, 1.02-2.21). In the subtype analysis, the odds ratio for only preeclampsia was significantly increased in the low birth weight group (aOR, 3.37; 95% CI, 1.84-6.16). In the group with a low birth weight, the prevalence of HDP was higher in both the underweight and overweight groups. In conclusion, there was a significant association between low birth weight and subsequent HDP in Japanese women. Furthermore, a significant association with HDP was found for women born with a low birth weight who were underweight or overweight as adults. Maintaining a normal weight may be effective for preventing HDP even if a woman was born small.

  89. Machine learning for effectively avoiding overfitting is a crucial strategy for the genetic prediction of polygenic psychiatric phenotypes Peer-reviewed

    Yuta Takahashi, Masao Ueki, Gen Tamiya, Soichi Ogishima, Kengo Kinoshita, Atsushi Hozawa, Naoko Minegishi, Fuji Nagami, Kentaro Fukumoto, Kotaro Otsuka, Kozo Tanno, Kiyomi Sakata, Atsushi Shimizu, Makoto Sasaki, Kenji Sobue, Shigeo Kure, Masayuki Yamamoto, Hiroaki Tomita

    Translational Psychiatry　10　(1)　2020/08/17

    Publisher: Springer Science and Business Media LLC

    DOI： 10.1038/s41398-020-00957-5 　

    eISSN： 2158-3188

  90. Clustering by phenotype and genome-wide association study in autism Peer-reviewed

    Akira Narita, Masato Nagai, Satoshi Mizuno, Soichi Ogishima, Gen Tamiya, Masao Ueki, Rieko Sakurai, Satoshi Makino, Taku Obara, Mami Ishikuro, Chizuru Yamanaka, Hiroko Matsubara, Yasutaka Kuniyoshi, Keiko Murakami, Fumihiko Ueno, Aoi Noda, Tomoko Kobayashi, Mika Kobayashi, Takuma Usuzaki, Hisashi Ohseto, Atsushi Hozawa, Masahiro Kikuya, Hirohito Metoki, Shigeo Kure, Shinichi Kuriyama

    Translational Psychiatry　10　(1)　2020/08/17

    Publisher: Springer Science and Business Media LLC

    DOI： 10.1038/s41398-020-00951-x 　

    eISSN： 2158-3188

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    <title>Abstract</title>Autism spectrum disorder (ASD) has phenotypically and genetically heterogeneous characteristics. A simulation study demonstrated that attempts to categorize patients with a complex disease into more homogeneous subgroups could have more power to elucidate hidden heritability. We conducted cluster analyses using the k-means algorithm with a cluster number of 15 based on phenotypic variables from the Simons Simplex Collection (SSC). As a preliminary study, we conducted a conventional genome-wide association study (GWAS) with a data set of 597 ASD cases and 370 controls. In the second step, we divided cases based on the clustering results and conducted GWAS in each of the subgroups vs controls (cluster-based GWAS). We also conducted cluster-based GWAS on another SSC data set of 712 probands and 354 controls in the replication stage. In the preliminary study, which was conducted in conventional GWAS design, we observed no significant associations. In the second step of cluster-based GWASs, we identified 65 chromosomal loci, which included 30 intragenic loci located in 21 genes and 35 intergenic loci that satisfied the threshold of <italic>P</italic> &lt; 5.0 × 10−8. Some of these loci were located within or near previously reported candidate genes for ASD: <italic>CDH5</italic>, <italic>CNTN5, CNTNAP5, DNAH17, DPP10, DSCAM</italic>, <italic>FOXK1</italic>, <italic>GABBR2, GRIN2A</italic>5, <italic>ITPR1, NTM, SDK1, SNCA</italic>, and <italic>SRRM4</italic>. Of these 65 significant chromosomal loci, rs11064685 located within the <italic>SRRM4</italic> gene had a significantly different distribution in the cases vs controls in the replication cohort. These findings suggest that clustering may successfully identify subgroups with relatively homogeneous disease etiologies. Further cluster validation and replication studies are warranted in larger cohorts.

  91. Design and Progress of Oral Health Examinations in the Tohoku Medical Megabank Project. Peer-reviewed

    Akito Tsuboi, Hiroyuki Matsui, Naru Shiraishi, Takahisa Murakami, Akihito Otsuki, Junko Kawashima, Tomomi Kiyama, Toru Tamahara, Maki Goto, Shihoko Koyama, Junichi Sugawara, Eiichi N Kodama, Hirohito Metoki, Atsushi Hozawa, Shinichi Kuriyama, Hiroaki Tomita, Masahiro Kikuya, Naoko Minegishi, Kichiya Suzuki, Seizo Koshiba, Gen Tamiya, Nobuo Fuse, Yuichi Aoki, Takako Takai-Igarashi, Soichi Ogishima, Tomohiro Nakamura, Mika Sakurai-Yageta, Fuji Nagami, Kengo Kinoshita, Shigeo Kure, Ritsuko Shimizu, Keiichi Sasaki, Masayuki Yamamoto

    The Tohoku journal of experimental medicine　251　(2)　97-115　2020/06

    DOI： 10.1620/tjem.251.97 　

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    In order to assess the long-term impact of the Great East Japan Earthquake on the oral health of disaster victims and to evaluate gene-environmental interactions in the development of major oral diseases and oral-systemic associations, the oral part of two large-scale genome cohort studies by the Tohoku Medical Megabank Organization (ToMMo), including the Community-based cohort (CommCohort) study and the Birth and Three-Generation cohort (BirThree) study, have been conducted. The study population comprised 32,185 subjects, including 16,886 participants in the CommCohort study and 15,299 participants in the BirThree cohort study, recruited from 2013 to 2017. The oral studies consist of a questionnaire regarding oral hygiene behavior, clinical examinations by dentists, and oral plaque and saliva sampling for microbiome analyses, which were carried out at seven community support centers in Miyagi prefecture. The median age of all participants was 55.0 years, and 66.1% of participants were women. Almost all participants reported that they brushed their teeth more than once a day. The median number of present teeth was 27.0, and the decayed, missing and filled tooth number was 16.0, with a significant difference according to age and sex. The median periodontal pocket and clinical attachment level was 2.48 mm and 4.00 mm, respectively. Periodontal parameters increased significantly according to age, except for the accumulation of dental calculus. The oral part of these extensive cross-sectional studies provides a unique and important platform for future studies on oral health and diseases that elicit through interactions with systemic diseases, lifestyles, life events and genetic backgrounds, and contributes to researches clarifying the long-term effects of disasters on oral health.

  92. Choosing preferable labels for the Japanese translation of the Human Phenotype Ontology. International-journal Peer-reviewed

    Kota Ninomiya, Terue Takatsuki, Tatsuya Kushida, Yasunori Yamamoto, Soichi Ogishima

    Genomics & informatics　18　(2)　e23　2020/06

    DOI： 10.5808/GI.2020.18.2.e23 　

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    The Human Phenotype Ontology (HPO) is the de facto standard ontology to describe human phenotypes in detail, and it is actively used, particularly in the field of rare disease diagnoses. For clinicians who are not fluent in English, the HPO has been translated into many languages, and there have been four initiatives to develop Japanese translations. At the Biomedical Linked Annotation Hackathon 6 (BLAH6), a rule-based approach was attempted to determine the preferable Japanese translation for each HPO term among the candidates developed by the four approaches. The relationship between the HPO and Mammalian Phenotype translations was also investigated, with the eventual goal of harmonizing the two translations to facilitate phenotype-based comparisons of species in Japanese through cross-species phenotype matching. In order to deal with the increase in the number of HPO terms and the need for manual curation, it would be useful to have a dictionary containing word-by-word correspondences and fixed translation phrases for English word order. These considerations seem applicable to HPO localization into other languages.

  93. Transethnic Meta-Analysis of Genome-Wide Association Studies Identifies Three New Loci and Characterizes Population-Specific Differences for Coronary Artery Disease. International-journal Peer-reviewed

    Hiroshi Matsunaga, Kaoru Ito, Masato Akiyama, Atsushi Takahashi, Satoshi Koyama, Seitaro Nomura, Hirotaka Ieki, Kouichi Ozaki, Yoshihiro Onouchi, Saori Sakaue, Shinichiro Suna, Soichi Ogishima, Masayuki Yamamoto, Atsushi Hozawa, Mamoru Satoh, Makoto Sasaki, Taiki Yamaji, Norie Sawada, Motoki Iwasaki, Shoichiro Tsugane, Keitaro Tanaka, Kokichi Arisawa, Hiroaki Ikezaki, Naoyuki Takashima, Mariko Naito, Kenji Wakai, Hideo Tanaka, Yasuhiko Sakata, Hiroyuki Morita, Yasushi Sakata, Koichi Matsuda, Yoshinori Murakami, Hiroshi Akazawa, Michiaki Kubo, Yoichiro Kamatani, Issei Komuro

    Circulation. Genomic and precision medicine　13　(3)　e002670　2020/06

    DOI： 10.1161/CIRCGEN.119.002670 　

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    BACKGROUND: Genome-wide association studies provided many biological insights into coronary artery disease (CAD), but these studies were mainly performed in Europeans. Genome-wide association studies in diverse populations have the potential to advance our understanding of CAD. METHODS: We conducted 2 genome-wide association studies for CAD in the Japanese population, which included 12 494 cases and 28 879 controls and 2808 cases and 7261 controls, respectively. Then, we performed transethnic meta-analysis using the results of the coronary artery disease genome-wide replication and meta-analysis plus the coronary artery disease 1000 Genomes meta-analysis with UK Biobank. We then explored the pathophysiological significance of these novel loci and examined the differences in CAD-susceptibility loci between Japanese and Europeans. RESULTS: We identified 3 new loci on chromosome 1q21 (CTSS), 10q26 (WDR11-FGFR2), and 11q22 (RDX-FDX1). Quantitative trait locus analyses suggested the association of CTSS and RDX-FDX1 with atherosclerotic immune cells. Tissue/cell type enrichment analysis showed the involvement of arteries, adrenal glands, and fat tissues in the development of CAD. We next compared the odds ratios of lead variants for myocardial infarction at 76 genome-wide significant loci in the transethnic meta-analysis and a moderate correlation between Japanese and Europeans, where 8 loci showed a difference. Finally, we performed tissue/cell type enrichment analysis using East Asian-frequent and European-frequent variants according to the risk allele frequencies and identified significant enrichment of adrenal glands in the East Asian-frequent group while the enrichment of arteries and fat tissues was found in the European-frequent group. These findings indicate biological differences in CAD susceptibility between Japanese and Europeans. CONCLUSIONS: We identified 3 new loci for CAD and highlighted the genetic differences between the Japanese and European populations. Moreover, our transethnic analyses showed both shared and unique genetic architectures between the Japanese and Europeans. While most of the underlying genetic bases for CAD are shared, further analyses in diverse populations will be needed to elucidate variations fully.

  94. Improved metabolomic data-based prediction of depressive symptoms using nonlinear machine learning with feature selection. International-journal Peer-reviewed

    Yuta Takahashi, Masao Ueki, Makoto Yamada, Gen Tamiya, Ikuko N Motoike, Daisuke Saigusa, Miyuki Sakurai, Fuji Nagami, Soichi Ogishima, Seizo Koshiba, Kengo Kinoshita, Masayuki Yamamoto, Hiroaki Tomita

    Translational psychiatry　10　(1)　157-157　2020/05/19

    DOI： 10.1038/s41398-020-0831-9 　

    eISSN： 2158-3188

  95. Cohort Profile: Tohoku Medical Megabank Project Birth and Three-Generation Cohort Study (TMM BirThree Cohort Study): rationale, progress and perspective. International-journal Peer-reviewed

    Shinichi Kuriyama, Hirohito Metoki, Masahiro Kikuya, Taku Obara, Mami Ishikuro, Chizuru Yamanaka, Masato Nagai, Hiroko Matsubara, Tomoko Kobayashi, Junichi Sugawara, Gen Tamiya, Atsushi Hozawa, Naoki Nakaya, Naho Tsuchiya, Tomohiro Nakamura, Akira Narita, Mana Kogure, Takumi Hirata, Ichiro Tsuji, Fuji Nagami, Nobuo Fuse, Tomohiko Arai, Yoshio Kawaguchi, Shinichi Higuchi, Masaki Sakaida, Yoichi Suzuki, Noriko Osumi, Keiko Nakayama, Kiyoshi Ito, Shinichi Egawa, Koichi Chida, Eiichi Kodama, Hideyasu Kiyomoto, Tadashi Ishii, Akito Tsuboi, Hiroaki Tomita, Yasuyuki Taki, Hiroshi Kawame, Kichiya Suzuki, Naoto Ishii, Soichi Ogishima, Satoshi Mizuno, Takako Takai-Igarashi, Naoko Minegishi, Jun Yasuda, Kazuhiko Igarashi, Ritsuko Shimizu, Masao Nagasaki, Osamu Tanabe, Seizo Koshiba, Hiroaki Hashizume, Hozumi Motohashi, Teiji Tominaga, Sadayoshi Ito, Kozo Tanno, Kiyomi Sakata, Atsushi Shimizu, Jiro Hitomi, Makoto Sasaki, Kengo Kinoshita, Hiroshi Tanaka, Tadao Kobayashi, Shigeo Kure, Nobuo Yaegashi, Masayuki Yamamoto

    International journal of epidemiology　49　(1)　18-19　2020/02/01

    DOI： 10.1093/ije/dyz169 　

    ISSN： 0300-5771

  96. BioHackathon 2015: Semantics of data for life sciences and reproducible research. International-journal Peer-reviewed

    Rutger A Vos, Toshiaki Katayama, Hiroyuki Mishima, Shin Kawano, Shuichi Kawashima, Jin-Dong Kim, Yuki Moriya, Toshiaki Tokimatsu, Atsuko Yamaguchi, Yasunori Yamamoto, Hongyan Wu, Peter Amstutz, Erick Antezana, Nobuyuki P Aoki, Kazuharu Arakawa, Jerven T Bolleman, Evan Bolton, Raoul J P Bonnal, Hidemasa Bono, Kees Burger, Hirokazu Chiba, Kevin B Cohen, Eric W Deutsch, Jesualdo T Fernández-Breis, Gang Fu, Takatomo Fujisawa, Atsushi Fukushima, Alexander García, Naohisa Goto, Tudor Groza, Colin Hercus, Robert Hoehndorf, Kotone Itaya, Nick Juty, Takeshi Kawashima, Jee-Hyub Kim, Akira R Kinjo, Masaaki Kotera, Kouji Kozaki, Sadahiro Kumagai, Tatsuya Kushida, Thomas Lütteke, Masaaki Matsubara, Joe Miyamoto, Attayeb Mohsen, Hiroshi Mori, Yuki Naito, Takeru Nakazato, Jeremy Nguyen-Xuan, Kozo Nishida, Naoki Nishida, Hiroyo Nishide, Soichi Ogishima, Tazro Ohta, Shujiro Okuda, Benedict Paten, Jean-Luc Perret, Philip Prathipati, Pjotr Prins, Núria Queralt-Rosinach, Daisuke Shinmachi, Shinya Suzuki, Tsuyosi Tabata, Terue Takatsuki, Kieron Taylor, Mark Thompson, Ikuo Uchiyama, Bruno Vieira, Chih-Hsuan Wei, Mark Wilkinson, Issaku Yamada, Ryota Yamanaka, Kazutoshi Yoshitake, Akiyasu C Yoshizawa, Michel Dumontier, Kenjiro Kosaki, Toshihisa Takagi

    F1000Research　9　136-136　2020

    DOI： 10.12688/f1000research.18236.1 　

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    We report on the activities of the 2015 edition of the BioHackathon, an annual event that brings together researchers and developers from around the world to develop tools and technologies that promote the reusability of biological data. We discuss issues surrounding the representation, publication, integration, mining and reuse of biological data and metadata across a wide range of biomedical data types of relevance for the life sciences, including chemistry, genotypes and phenotypes, orthology and phylogeny, proteomics, genomics, glycomics, and metabolomics. We describe our progress to address ongoing challenges to the reusability and reproducibility of research results, and identify outstanding issues that continue to impede the progress of bioinformatics research. We share our perspective on the state of the art, continued challenges, and goals for future research and development for the life sciences Semantic Web.

  97. BioHackathon series in 2013 and 2014: improvements of semantic interoperability in life science data and services Peer-reviewed

    Katayama T, Kawashima S, Micklem G, Kawano S, Kim JD, Kocbek S, Okamoto S, Wang Y, Wu H, Yamaguchi A, Yamamoto Y, Antezana E, Aoki-Kinoshita KF, Arakawa K, Banno M, Baran J, Bolleman JT, Bonnal RJP, Bono H, Fernández-Breis JT, Buels R, Campbell MP, Chiba H, Cock PJA, Cohen KB, Dumontier M, Fujisawa T, Fujiwara T, Garcia L, Gaudet P, Hattori E, Hoehndorf R, Itaya K, Ito M, Jamieson D, Jupp S, Juty N, Kalderimis A, Kato F, Kawaji H, Kawashima T, Kinjo AR, Komiyama Y, Kotera M, Kushida T, Malone J, Matsubara M, Mizuno S, Mizutani S, Mori H, Moriya Y, Murakami K, Nakazato T, Nishide H, Nishimura Y, Ogishima S, Ohta T, Okuda S, Ono H, Perez-Riverol Y, Shinmachi D, Splendiani A, Strozzi F, Suzuki S, Takehara J, Thompson M, Tokimatsu T, Uchiyama I, Verspoor K, Wilkinson MD, Wimalaratne S, Yamada I, Yamamoto N, Yarimizu M, Kawamoto S, Takagi T

    F1000Research　8　2019/09

    DOI： 10.12688/f1000research.18238.1 　

    ISSN： 2046-1402

    eISSN： 1759-796X

  98. A training and education program for genome medical research coordinators in the genome cohort study of the Tohoku Medical Megabank Organization. International-journal Peer-reviewed

    Mika Sakurai-Yageta, Hiroshi Kawame, Shinichi Kuriyama, Atsushi Hozawa, Naoki Nakaya, Fuji Nagami, Naoko Minegishi, Soichi Ogishima, Takako Takai-Igarashi, Inaho Danjoh, Taku Obara, Mami Ishikuro, Tomoko Kobayashi, Yayoi Aizawa, Rino Ishihara, Masayuki Yamamoto, Yoichi Suzuki

    BMC medical education　19　(1)　297-297　2019/08/02

    DOI： 10.1186/s12909-019-1725-5 　

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    BACKGROUND: Genome cohort studies are used to analyze interactions between genetic and environmental factors, providing valuable information for personalized healthcare. Large-scale and long-term cohort studies require a number of specially trained personnel, of whom those involved in obtaining informed consent play a vital role, especially during the initial phase of such studies. The Japanese Society of Human Genetics (JSHG) previously established a certification system for genome medical research coordinators (GMRCs) responsible for obtaining written consent via face-to-face explanation. Meanwhile, in the Tohoku Medical Megabank Organization (ToMMo), GMRCs are expected to play important roles not only in obtaining informed consent and conducting various assessments, but also in communicating with participants throughout the long-term follow-up. Based on the JSHG program, we therefore developed a specific education and training program for ToMMo GMRCs consisting of 17 lectures, one practical training session on the informed consent procedure, and written and interview examinations. Re-education workshops aimed at self-improvement are also carried out following certification. In this study, we evaluated the education and training program in terms of overall understanding, usefulness, and satisfaction using an anonymous questionnaire. METHODS: An anonymous questionnaire addressing each aspect of the education and training program (understanding, usefulness, and satisfaction) was distributed among 152 qualified ToMMo GMRCs. Responses were received from 94 participants (61.8%). RESULTS: There was a significant association between the level of overall understanding of lectures and medical qualification (nurse or clinical laboratory technologist), but not with age or educational background. The level of understanding and overall usefulness were lower in sessions related to genetics and epidemiology than those dealing with ToMMo practices. In the re-education workshops, GMRCs showed a preference for and hoped to learn more about both background knowledge and research progress in the ToMMo. CONCLUSIONS: The results of our questionnaire suggest that not all ToMMo GMRCs are able to understand everything during the initial education and training program, especially in terms of genomic medicine. Continuous re-education is therefore vital in improving knowledge, skills and motivation, and preparing GMRCs for a specialist role in community-based personalized healthcare.

  99. Challenges in Building and Maintaining Rare Disease Patient Registries: Results of a Questionnaire Survey in Japan at 2012

    Mizuki Morita, Soichi Ogishima

    medRxiv　19004770　2019/08

    DOI： 10.1101/19004770 　

  100. Construction of JRG (Japanese reference genome) with single-molecule real-time sequencing. International-journal Peer-reviewed

    Masao Nagasaki, Yoko Kuroki, Tomoko F Shibata, Fumiki Katsuoka, Takahiro Mimori, Yosuke Kawai, Naoko Minegishi, Atsushi Hozawa, Shinichi Kuriyama, Yoichi Suzuki, Hiroshi Kawame, Fuji Nagami, Takako Takai-Igarashi, Soichi Ogishima, Kaname Kojima, Kazuharu Misawa, Osamu Tanabe, Nobuo Fuse, Hiroshi Tanaka, Nobuo Yaegashi, Kengo Kinoshita, Shiego Kure, Jun Yasuda, Masayuki Yamamoto

    Human genome variation　6　(27)　27-27　2019/06/07

    DOI： 10.1038/s41439-019-0057-7 　

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    In recent genome analyses, population-specific reference panels have indicated important. However, reference panels based on short-read sequencing data do not sufficiently cover long insertions. Therefore, the nature of long insertions has not been well documented. Here, we assembled a Japanese genome using single-molecule real-time sequencing data and characterized insertions found in the assembled genome. We identified 3691 insertions ranging from 100 bps to ~10,000 bps in the assembled genome relative to the international reference sequence (GRCh38). To validate and characterize these insertions, we mapped short-reads from 1070 Japanese individuals and 728 individuals from eight other populations to insertions integrated into GRCh38. With this result, we constructed JRGv1 (Japanese Reference Genome version 1) by integrating the 903 verified insertions, totaling 1,086,173 bases, shared by at least two Japanese individuals into GRCh38. We also constructed decoyJRGv1 by concatenating 3559 verified insertions, totaling 2,536,870 bases, shared by at least two Japanese individuals or by six other assemblies. This assembly improved the alignment ratio by 0.4% on average. These results demonstrate the importance of refining the reference assembly and creating a population-specific reference genome. JRGv1 and decoyJRGv1 are available at the JRG website.

  101. Novel Risk Loci Identified in a Genome-Wide Association Study of Urolithiasis in a Japanese Population. International-journal Peer-reviewed

    Tanikawa C, Kamatani Y, Terao C, Usami M, Takahashi A, Momozawa Y, Suzuki K, Ogishima S, Shimizu A, Satoh M, Matsuo K, Mikami H, Naito M, Wakai K, Yamaji T, Sawada N, Iwasaki M, Tsugane S, Kohri K, Yu ASL, Yasui T, Murakami Y, Kubo M, Matsuda K

    Journal of the American Society of Nephrology : JASN　30　(5)　855-864　2019/05

    DOI： 10.1681/ASN.2018090942 　

    ISSN： 1046-6673

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    BACKGROUND: A family history of urolithiasis is associated with a more than doubling of urolithiasis risk, and a twin study estimating 56% heritability of the condition suggests a pivotal role for host genetic factors. However, previous genome-wide association studies (GWAS) have identified only six risk-related loci. METHODS: To identify novel urolithiasis-related loci in the Japanese population, we performed a large-scale GWAS of 11,130 cases and 187,639 controls, followed by a replication analysis of 2289 cases and 3817 controls. Diagnosis of urolithiasis was confirmed either by a clinician or using medical records or self-report. We also assessed the association of urolithiasis loci with 16 quantitative traits, including metabolic, kidney-related, and electrolyte traits (such as body mass index, lipid storage, eGFR, serum uric acid, and serum calcium), using up to 160,000 samples from BioBank Japan. RESULTS: The analysis identified 14 significant loci, including nine novel loci. Ten regions showed a significant association with at least one quantitative trait, including metabolic, kidney-related, and electrolyte traits, suggesting a common genetic basis for urolithiasis and these quantitative traits. Four novel loci were related to metabolic traits, obesity, hypertriglyceridemia, or hyperuricemia. The remaining ten loci were associated with kidney- or electrolyte-related traits; these may affect crystallization. Weighted genetic risk score analysis indicated that the highest risk group (top 20%) showed an odds ratio of 1.71 (95% confidence interval, 1.42 to 2.06) - 2.13 (95% confidence interval, 2.00 to 2.27) compared with the reference group (bottom 20%). CONCLUSIONS: Our findings provide evidence that host genetic factors related to regulation of metabolic and crystallization pathways contribute to the development of urolithiasis.

  102. Maternity Log study: a longitudinal lifelog monitoring and multiomics analysis for the early prediction of complicated pregnancy. International-journal Peer-reviewed

    Junichi Sugawara, Daisuke Ochi, Riu Yamashita, Takafumi Yamauchi, Daisuke Saigusa, Maiko Wagata, Taku Obara, Mami Ishikuro, Yoshiki Tsunemoto, Yuki Harada, Tomoko Shibata, Takahiro Mimori, Junko Kawashima, Fumiki Katsuoka, Takako Igarashi-Takai, Soichi Ogishima, Hirohito Metoki, Hiroaki Hashizume, Nobuo Fuse, Naoko Minegishi, Seizo Koshiba, Osamu Tanabe, Shinichi Kuriyama, Kengo Kinoshita, Shigeo Kure, Nobuo Yaegashi, Masayuki Yamamoto, Satoshi Hiyama, Masao Nagasaki

    BMJ open　9　(2)　e025939　2019/02/19

    DOI： 10.1136/bmjopen-2018-025939 　

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    PURPOSE: A prospective cohort study for pregnant women, the Maternity Log study, was designed to construct a time-course high-resolution reference catalogue of bioinformatic data in pregnancy and explore the associations between genomic and environmental factors and the onset of pregnancy complications, such as hypertensive disorders of pregnancy, gestational diabetes mellitus and preterm labour, using continuous lifestyle monitoring combined with multiomics data on the genome, transcriptome, proteome, metabolome and microbiome. PARTICIPANTS: Pregnant women were recruited at the timing of first routine antenatal visits at Tohoku University Hospital, Sendai, Japan, between September 2015 and November 2016. Of the eligible women who were invited, 65.4% agreed to participate, and a total of 302 women were enrolled. The inclusion criteria were age ≥20 years and the ability to access the internet using a smartphone in the Japanese language. FINDINGS TO DATE: Study participants uploaded daily general health information including quality of sleep, condition of bowel movements and the presence of nausea, pain and uterine contractions. Participants also collected physiological data, such as body weight, blood pressure, heart rate and body temperature, using multiple home healthcare devices. The mean upload rate for each lifelog item was ranging from 67.4% (fetal movement) to 85.3% (physical activity), and the total number of data points was over 6 million. Biospecimens, including maternal plasma, serum, urine, saliva, dental plaque and cord blood, were collected for multiomics analysis. FUTURE PLANS: Lifelog and multiomics data will be used to construct a time-course high-resolution reference catalogue of pregnancy. The reference catalogue will allow us to discover relationships among multidimensional phenotypes and novel risk markers in pregnancy for the future personalised early prediction of pregnancy complications.

  103. Genome analyses for the Tohoku Medical Megabank Project towards establishment of personalized healthcare. International-journal Peer-reviewed

    Jun Yasuda, Kengo Kinoshita, Fumiki Katsuoka, Inaho Danjoh, Mika Sakurai-Yageta, Ikuko N Motoike, Yoko Kuroki, Sakae Saito, Kaname Kojima, Matsuyuki Shirota, Daisuke Saigusa, Akihito Otsuki, Junko Kawashima, Yumi Yamaguchi-Kabata, Shu Tadaka, Yuichi Aoki, Takahiro Mimori, Kazuki Kumada, Jin Inoue, Satoshi Makino, Miho Kuriki, Nobuo Fuse, Seizo Koshiba, Osamu Tanabe, Masao Nagasaki, Gen Tamiya, Ritsuko Shimizu, Takako Takai-Igarashi, Soichi Ogishima, Atsushi Hozawa, Shinichi Kuriyama, Junichi Sugawara, Akito Tsuboi, Hideyasu Kiyomoto, Tadashi Ishii, Hiroaki Tomita, Naoko Minegishi, Yoichi Suzuki, Kichiya Suzuki, Hiroshi Kawame, Hiroshi Tanaka, Yasuyuki Taki, Nobuo Yaegashi, Shigeo Kure, Fuji Nagami, Kenjiro Kosaki, Yoichi Sutoh, Tsuyoshi Hachiya, Atsushi Shimizu, Makoto Sasaki, Masayuki Yamamoto

    Journal of biochemistry　165　(2)　139-158　2019/02/01

    DOI： 10.1093/jb/mvy096 　

    ISSN： 0021-924X

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    Personalized healthcare (PHC) based on an individual's genetic make-up is one of the most advanced, yet feasible, forms of medical care. The Tohoku Medical Megabank (TMM) Project aims to combine population genomics, medical genetics and prospective cohort studies to develop a critical infrastructure for the establishment of PHC. To date, a TMM CommCohort (adult general population) and a TMM BirThree Cohort (birth+three-generation families) have conducted recruitments and baseline surveys. Genome analyses as part of the TMM Project will aid in the development of a high-fidelity whole-genome Japanese reference panel, in designing custom single-nucleotide polymorphism (SNP) arrays specific to Japanese, and in estimation of the biological significance of genetic variations through linked investigations of the cohorts. Whole-genome sequencing from >3,500 unrelated Japanese and establishment of a Japanese reference genome sequence from long-read data have been done. We next aim to obtain genotype data for all TMM cohort participants (>150,000) using our custom SNP arrays. These data will help identify disease-associated genomic signatures in the Japanese population, while genomic data from TMM BirThree Cohort participants will be used to improve the reference genome panel. Follow-up of the cohort participants will allow us to test the genetic markers and, consequently, contribute to the realization of PHC.

  104. GWAS identifies nine nephrolithiasis susceptibility loci related with metabolic metabolic and crystallization pathways

    Chizu Tanikawa, Yoichiro Kamatani, Chikashi Terao, Masayuki Usami, Atsushi Takahashi, Yukihide Momozawa, Kichiya Suzuki, Soichi Ogishima, Atsushi Shimizu, Mamoru Satoh, Keitaro Matsuo, Haruo Mikami, Mariko Naito, Kenji Wakai, Taiki Yamaji, Norie Sawada, Motoki Iwasaki, Shoichiro Tsugane, Kenjiro Kohri, Takahiro Yasui, Yoshinori Murakami, Michiaki Kubo, Koichi Matsuda

    2019/01/13

    Publisher: Cold Spring Harbor Laboratory

    DOI： 10.1101/519553 　

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    ABSTRACT Nephrolithiasis is a common urological trait disorder with acute pain. Although previous studies have identified various genetic variations associated with nephrolithiasis, the host genetic factors remain largely unidentified. To identify novel nephrolithiasis loci in the Japanese population, we performed large-scale GWAS (Genome wide association study) using 11,130 cases and 187,639 controls, followed by a replication analysis using 2,289 cases and 3,817 controls. The analysis identified 14 significant loci, including 9 novel loci on 2p23.2-3, 6p21.2, 6p12.3, 6q23.2, 16p12.3, 16q12.2, 17q23.2, 19p13.12, and 20q13.2. Interestingly, 10 of the 14 regions showed a significant association with any of 16 quantitative traits, including metabolic, kidney-related, and electrolyte traits, suggesting a common genetic background among nephrolithiasis patients and these quantitative traits. Four novel loci are related to the metabolic pathway, while the remaining 10 loci are associated with the crystallization pathway. Our findings demonstrate the crucial roles of genetic variations in the development of nephrolithiasis. SIGNIFICANCE STATEMENT Nephrolithiasis is a common urothelial disorders with frequent recurrence rate, but its genetic background is largely remained unidentified. Previous GWAS identified 6 genetic factors in total. Here we performed a GWAS using more than 200,000 samples in the Japanese populations, and identified 14 significant loci and nine of them are novel. We also found that 10 of the 14 loci showed a significant association with any of 16 quantitative traits, including metabolic, kidney-related, and electrolyte traits (BMI, eGFR, UA, Ca etc). All 14 significant loci are associate with either metabolic or crystallization pathways. Thus, our findings elucidated the underlying molecular pathogenesis of nephrolithiasis.

  105. Management of family relationship information for a three-generation cohort study

    Shimokawa K, Ishikuro M, Obara T, Metoki H, Mizuno S, Nagaie S, Nagai M, Yamanaka C, Matsubara H, Kato M, Sato Y, Ogishima S, Takai-Igarashi T, Kikuya M, Hozawa A, Nagami F, Kuriyama S, Kinoshita K, Yamamoto M, Tanaka H

    bioRxiv　2019/01

  106. Biobank Establishment and Sample Management in the Tohoku Medical Megabank Project Peer-reviewed

    Naoko Minegishi, Ichiko Nishijima, Takahiro Nobukuni, Hisaaki Kudo, Noriko Ishida, Takahiro Terakawa, Kazuki Kumada, Riu Yamashita, Fumiki Katsuoka, Soichi Ogishima, Kichiya Suzuki, Makoto Sasaki, Mamoru Satoh, Tohoku Medical Megabank Project Study Group, Masayuki Yamamoto

    The Tohoku Journal of Experimental Medicine　248　(1)　45-55　2019

    Publisher: Tohoku University Medical Press

    DOI： 10.1620/tjem.248.45 　

    ISSN： 0040-8727

    eISSN： 1349-3329

  107. Susceptibility Loci for Tanning Ability in the Japanese Population Identified by a Genome-Wide Association Study from the Tohoku Medical Megabank Project Cohort Study. Peer-reviewed

    Shido K, Kojima K, Yamasaki K, Hozawa A, Tamiya G, Ogishima S, Minegishi N, Kawai Y, Tanno K, Suzuki Y, Nagasaki M, Aiba S

    The Journal of investigative dermatology　139　(7)　1605-1608.e13　2019/01

    DOI： 10.1016/j.jid.2019.01.015 　

    ISSN： 0022-202X

    eISSN： 1523-1747

  108. Omics research project on prospective cohort studies from the Tohoku Medical Megabank Project. International-journal Peer-reviewed

    Seizo Koshiba, Ikuko Motoike, Daisuke Saigusa, Jin Inoue, Matsuyuki Shirota, Yasutake Katoh, Fumiki Katsuoka, Inaho Danjoh, Atsushi Hozawa, Shinichi Kuriyama, Naoko Minegishi, Masao Nagasaki, Takako Takai-Igarashi, Soichi Ogishima, Nobuo Fuse, Shigeo Kure, Gen Tamiya, Osamu Tanabe, Jun Yasuda, Kengo Kinoshita, Masayuki Yamamoto

    Genes to cells : devoted to molecular & cellular mechanisms　23　(6)　406-417　2018/06

    DOI： 10.1111/gtc.12588 　

    ISSN： 1356-9597

  109. Authentication of patients and participants in health information exchange and consent for medical research: A key step for privacy protection, respect for autonomy, and Trustworthiness Peer-reviewed

    Atsushi Kogetsu, Soichi Ogishima, Kazuto Kato

    Frontiers in Genetics　9　(JUN)　167　2018/06/01

    DOI： 10.3389/fgene.2018.00167 　

    ISSN： 1664-8021

    eISSN： 1664-8021

  110. Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes Peer-reviewed

    Rainer Malik, Ganesh Chauhan, Matthew Traylor, Muralidharan Sargurupremraj, Yukinori Okada, Aniket Mishra, Loes Rutten-Jacobs, Anne-Katrin Giese, Sander W. Van Der Laan, Solveig Gretarsdottir, Christopher D. Anderson, Michael Chong, Hieab H. H. Adams, Tetsuro Ago, Peter Almgren, Philippe Amouyel, Hakan Ay, Traci M. Bartz, Oscar R. Benavente, Steve Bevan, Giorgio B. Boncoraglio, Robert D. Brown, Adam S. Butterworth, Caty Carrera, Cara L. Carty, Daniel I. Chasman, Wei-Min Chen, John W. Cole, Adolfo Correa, Ioana Cotlarciuc, Carlos Cruchaga, John Danesh, Paul I. W. De Bakker, Anita L. Destefano, Marcel Den Hoed, Qing Duan, Stefan T. Engelter, Guido J. Falcone, Rebecca F. Gottesman, Raji P. Grewal, Vilmundur Gudnason, Stefan Gustafsson, Jeffrey Haessler, Tamara B. Harris, Ahamad Hassan, Aki S. Havulinna, Susan R. Heckbert, Elizabeth G. Holliday, George Howard, Fang-Chi Hsu, Hyacinth I. Hyacinth, M. Arfan Ikram, Erik Ingelsson, Marguerite R. Irvin, Xueqiu Jian, Jordi Jiménez-Conde, Julie A. Johnson, J. Wouter Jukema, Masahiro Kanai, Keith L. Keene, Brett M. Kissela, Dawn O. Kleindorfer, Charles Kooperberg, Michiaki Kubo, Leslie A. Lange, Carl D. Langefeld, Claudia Langenberg, Lenore J. Launer, Jin-Moo Lee, Robin Lemmens, Didier Leys, Cathryn M. Lewis, Wei-Yu Lin, Arne G. Lindgren, Erik Lorentzen, Patrik K. Magnusson, Jane Maguire, Ani Manichaikul, Patrick F. McArdle, James F. Meschia, Braxton D. Mitchell, Thomas H. Mosley, Michael A. Nalls, Toshiharu Ninomiya, Martin J. O'Donnell, Bruce M. Psaty, Sara L. Pulit, Kristiina Rannikmäe, Alexander P. Reiner, Kathryn M. Rexrode, Kenneth Rice, Stephen S. Rich, Paul M. Ridker, Natalia S. Rost, Peter M. Rothwell, Jerome I. Rotter, Tatjana Rundek, Ralph L. Sacco, Saori Sakaue, Michele M. Sale, Veikko Salomaa, Bishwa R. Sapkota, Reinhold Schmidt, Carsten O. Schmidt, Ulf Schminke, Pankaj Sharma, Agnieszka Slowik, Cathie L. M. Sudlow, Christian Tanislav, Turgut Tatlisumak, Kent D. Taylor, Vincent N. S. Thijs, Gudmar Thorleifsson, Unnur Thorsteinsdottir, Steffen Tiedt, Stella Trompet, Christophe Tzourio, Cornelia M. Van Duijn, Matthew Walters, Nicholas J. Wareham, Sylvia Wassertheil-Smoller, James G. Wilson, Kerri L. Wiggins, Qiong Yang, Salim Yusuf, Joshua C. Bis, Tomi Pastinen, Arno Ruusalepp, Eric E. Schadt, Simon Koplev, Johan L. M. Björkegren, Veronica Codoni, Mete Civelek, Nicholas L. Smith, David A. Trégouët, Ingrid E. Christophersen, Carolina Roselli, Steven A. Lubitz, Patrick T. Ellinor, E. Shyong Tai, Jaspal S. Kooner, Norihiro Kato, Jiang He, Pim Van Der Harst, Paul Elliott, John C. Chambers, Fumihiko Takeuchi, Andrew D. Johnson, Dharambir K. Sanghera, Olle Melander, Christina Jern, Daniel Strbian, Israel Fernandez-Cadenas, W. T. Longstreth, Arndt Rolfs, Jun Hata, Daniel Woo, Jonathan Rosand, Guillaume Pare, Jemma C. Hopewell, Danish Saleheen, Kari Stefansson, Bradford B. Worrall, Steven J. Kittner, Sudha Seshadri, Myriam Fornage, Hugh S. Markus, Joanna M. M. Howson, Yoichiro Kamatani, Stephanie Debette, Martin Dichgans, Najaf Amin, Hugo S. Aparicio, Donna K. Arnett, John Attia, Alexa S. Beiser, Claudine Berr, Julie E. Buring, Mariana Bustamante, Valeria Caso, Yu-Ching Cheng, Seung Hoan Choi, Ayesha Chowhan, Natalia Cullell, Jean-François Dartigues, Hossein Delavaran, Pilar Delgado, Marcus Dörr, Gunnar Engström, Ian Ford, Wander S. Gurpreet, Anders Hamsten, Laura Heitsch, Atsushi Hozawa, Laura Ibanez, Andreea Ilinca, Martin Ingelsson, Motoki Iwasaki, Rebecca D. Jackson, Katarina Jood, Pekka Jousilahti, Sara Kaffashian, Lalit Kalra, Masahiro Kamouchi, Takanari Kitazono, Olafur Kjartansson, Manja Kloss, Peter J. Koudstaal, Jerzy Krupinski, Daniel L. Labovitz, Cathy C. Laurie, Christopher R. Levi, Linxin Li, Lars Lind, Cecilia M. Lindgren, Vasileios Lioutas, Yong Mei Liu, Oscar L. Lopez, Hirata Makoto, Nicolas Martinez-Majander, Koichi Matsuda, Naoko Minegishi, Joan Montaner, Andrew P. Morris, Elena Muiño, Martina Müller-Nurasyid, Bo Norrving, Soichi Ogishima, Eugenio A. Parati, Leema Reddy Peddareddygari, Nancy L. Pedersen, Joanna Pera, Markus Perola, Alessandro Pezzini, Silvana Pileggi, Raquel Rabionet, Iolanda Riba-Llena, Marta Ribasés, Jose R. Romero, Jaume Roquer, Anthony G. Rudd, Antti-Pekka Sarin, Ralhan Sarju, Chloe Sarnowski, Makoto Sasaki, Claudia L. Satizabal, Mamoru Satoh, Naveed Sattar, Norie Sawada, Gerli Sibolt, Ásgeir Sigurdsson, Albert Smith, Kenji Sobue, Carolina Soriano-Tárraga, Tara Stanne, O. Colin Stine, David J. Stott, Konstantin Strauch, Takako Takai, Hideo Tanaka, Kozo Tanno, Alexander Teumer, Liisa Tomppo, Nuria P. Torres-Aguila, Emmanuel Touze, Shoichiro Tsugane, Andre G. Uitterlinden, Einar M. Valdimarsson, Sven J. Van Der Lee, Henry Völzke, Kenji Wakai, David Weir, Stephen R. Williams, Charles D. A. Wolfe, Quenna Wong, Huichun Xu, Taiki Yamaji, AFGen Consortium

    Nature Genetics　50　(4)　524-537　2018/04/01

    Publisher: Nature Publishing Group

    DOI： 10.1038/s41588-018-0058-3 　

    ISSN： 1546-1718 1061-4036

    eISSN： 1546-1718

  111. Evaluation of reported pathogenic variants and their frequencies in a Japanese population based on a whole-genome reference panel of 2049 individuals. International-journal Peer-reviewed

    Yumi Yamaguchi-Kabata, Jun Yasuda, Osamu Tanabe, Yoichi Suzuki, Hiroshi Kawame, Nobuo Fuse, Masao Nagasaki, Yosuke Kawai, Kaname Kojima, Fumiki Katsuoka, Sakae Saito, Inaho Danjoh, Ikuko N Motoike, Riu Yamashita, Seizo Koshiba, Daisuke Saigusa, Gen Tamiya, Shigeo Kure, Nobuo Yaegashi, Yoshio Kawaguchi, Fuji Nagami, Shinichi Kuriyama, Junichi Sugawara, Naoko Minegishi, Atsushi Hozawa, Soichi Ogishima, Hideyasu Kiyomoto, Takako Takai-Igarashi, Kengo Kinoshita, Masayuki Yamamoto

    Journal of human genetics　63　(2)　213-230　2018/02

    DOI： 10.1038/s10038-017-0347-1 　

    ISSN： 1434-5161

  112. FANTOM5 CAGE profiles of human and mouse samples. International-journal Peer-reviewed

    Shuhei Noguchi, Takahiro Arakawa, Shiro Fukuda, Masaaki Furuno, Akira Hasegawa, Fumi Hori, Sachi Ishikawa-Kato, Kaoru Kaida, Ai Kaiho, Mutsumi Kanamori-Katayama, Tsugumi Kawashima, Miki Kojima, Atsutaka Kubosaki, Ri-Ichiroh Manabe, Mitsuyoshi Murata, Sayaka Nagao-Sato, Kenichi Nakazato, Noriko Ninomiya, Hiromi Nishiyori-Sueki, Shohei Noma, Eri Saijyo, Akiko Saka, Mizuho Sakai, Christophe Simon, Naoko Suzuki, Michihira Tagami, Shoko Watanabe, Shigehiro Yoshida, Peter Arner, Richard A Axton, Magda Babina, J Kenneth Baillie, Timothy C Barnett, Anthony G Beckhouse, Antje Blumenthal, Beatrice Bodega, Alessandro Bonetti, James Briggs, Frank Brombacher, Ailsa J Carlisle, Hans C Clevers, Carrie A Davis, Michael Detmar, Taeko Dohi, Albert S B Edge, Matthias Edinger, Anna Ehrlund, Karl Ekwall, Mitsuhiro Endoh, Hideki Enomoto, Afsaneh Eslami, Michela Fagiolini, Lynsey Fairbairn, Mary C Farach-Carson, Geoffrey J Faulkner, Carmelo Ferrai, Malcolm E Fisher, Lesley M Forrester, Rie Fujita, Jun-Ichi Furusawa, Teunis B Geijtenbeek, Thomas Gingeras, Daniel Goldowitz, Sven Guhl, Reto Guler, Stefano Gustincich, Thomas J Ha, Masahide Hamaguchi, Mitsuko Hara, Yuki Hasegawa, Meenhard Herlyn, Peter Heutink, Kelly J Hitchens, David A Hume, Tomokatsu Ikawa, Yuri Ishizu, Chieko Kai, Hiroshi Kawamoto, Yuki I Kawamura, Judith S Kempfle, Tony J Kenna, Juha Kere, Levon M Khachigian, Toshio Kitamura, Sarah Klein, S Peter Klinken, Alan J Knox, Soichi Kojima, Haruhiko Koseki, Shigeo Koyasu, Weonju Lee, Andreas Lennartsson, Alan Mackay-Sim, Niklas Mejhert, Yosuke Mizuno, Hiromasa Morikawa, Mitsuru Morimoto, Kazuyo Moro, Kelly J Morris, Hozumi Motohashi, Christine L Mummery, Yutaka Nakachi, Fumio Nakahara, Toshiyuki Nakamura, Yukio Nakamura, Tadasuke Nozaki, Soichi Ogishima, Naganari Ohkura, Hiroshi Ohno, Mitsuhiro Ohshima, Mariko Okada-Hatakeyama, Yasushi Okazaki, Valerio Orlando, Dmitry A Ovchinnikov, Robert Passier, Margaret Patrikakis, Ana Pombo, Swati Pradhan-Bhatt, Xian-Yang Qin, Michael Rehli, Patrizia Rizzu, Sugata Roy, Antti Sajantila, Shimon Sakaguchi, Hiroki Sato, Hironori Satoh, Suzana Savvi, Alka Saxena, Christian Schmidl, Claudio Schneider, Gundula G Schulze-Tanzil, Anita Schwegmann, Guojun Sheng, Jay W Shin, Daisuke Sugiyama, Takaaki Sugiyama, Kim M Summers, Naoko Takahashi, Jun Takai, Hiroshi Tanaka, Hideki Tatsukawa, Andru Tomoiu, Hiroo Toyoda, Marc van de Wetering, Linda M van den Berg, Roberto Verardo, Dipti Vijayan, Christine A Wells, Louise N Winteringham, Ernst Wolvetang, Yoko Yamaguchi, Masayuki Yamamoto, Chiyo Yanagi-Mizuochi, Misako Yoneda, Yohei Yonekura, Peter G Zhang, Silvia Zucchelli, Imad Abugessaisa, Erik Arner, Jayson Harshbarger, Atsushi Kondo, Timo Lassmann, Marina Lizio, Serkan Sahin, Thierry Sengstag, Jessica Severin, Hisashi Shimoji, Masanori Suzuki, Harukazu Suzuki, Jun Kawai, Naoto Kondo, Masayoshi Itoh, Carsten O Daub, Takeya Kasukawa, Hideya Kawaji, Piero Carninci, Alistair R R Forrest, Yoshihide Hayashizaki

    Scientific data　4　170112-170112　2017/08/29

    DOI： 10.1038/sdata.2017.112 　

    ISSN： 2052-4463

  113. Security controls in an integrated Biobank to protect privacy in data sharing: rationale and study design Peer-reviewed

    Takako Takai-Igarashi, Kengo Kinoshita, Masao Nagasaki, Soichi Ogishima, Naoki Nakamura, Sachiko Nagase, Satoshi Nagaie, Tomo Saito, Fuji Nagami, Naoko Minegishi, Yoichi Suzuki, Kichiya Suzuki, Hiroaki Hashizume, Shinichi Kuriyama, Atsushi Hozawa, Nobuo Yaegashi, Shigeo Kure, Gen Tamiya, Yoshio Kawaguchi, Hiroshi Tanaka, Masayuki Yamamoto

    BMC MEDICAL INFORMATICS AND DECISION MAKING　17　(1)　100　2017/07

    DOI： 10.1186/s12911-017-0494-5 　

    ISSN： 1472-6947

  114. Identification of six new genetic loci associated with atrial fibrillation in the Japanese population Peer-reviewed

    Siew-Kee Low, Atsushi Takahashi, Yusuke Ebana, Kouichi Ozaki, Ingrid E. Christophersen-, Patrick T. Ellinor, Soichi Ogishima, Masayuki Yamamoto, Mamoru Satoh, Makoto Sasaki, Taiki Yamaji, Motoki Iwasaki, Shoichiro Tsugane, Keitaro Tanaka, Mariko Naito, Kenji Wakai, Hideo Tanaka, Tetsushi Furukawa, Michiaki Kubo, Kaoru Ito, Yoichiro Kamatani, Toshihiro Tanaka

    NATURE GENETICS　49　(6)　953-+　2017/06

    DOI： 10.1038/ng.3842 　

    ISSN： 1061-4036

    eISSN： 1546-1718

  115. The Human Phenotype Ontology in 2017 Peer-reviewed

    Sebastian Koehler, Nicole A. Vasilevsky, Mark Engelstad, Erin Foster, Julie McMurry, Segolene Ayme, Gareth Baynam, Susan M. Bello, Cornelius F. Boerkoel, Kym M. Boycott, Michael Brudno, Orion J. Buske, Patrick F. Chinnery, Valentina Cipriani, Laureen E. Connell, Hugh J. S. Dawkins, Laura E. DeMare, Andrew D. Devereau, Bert B. A. de Vries, Helen V. Firth, Kathleen Freson, Daniel Greene, Ada Hamosh, Ingo Helbig, Courtney Hum, Johaenna A. Jahn, Roger James, Roland Krause, Stanley J. F. Laulederkind, Hanns Lochmuller, Gholson J. Lyon, Soichi Ogishima, Annie Olry, Willem H. Ouwehand, Nikolas Pontikos, Ana Rath, Franz Schaefer, Richard H. Scott, Michael Segal, Panagiotis I. Sergouniotis, Richard Sever, Cynthia L. Smith, Volker Straub, Rachel Thompson, Catherine Turner, Ernest Turro, Marijcke W. M. Veltman, Tom Vulliamy, Jing Yu, Julie von Ziegenweidt, Andreas Zankl, Stephan Zuchner, Tomasz Zemojtel, Julius O. B. Jacobsen, Tudor Groza, Damian Smedley, Christopher J. Mungall, Melissa Haendel, Peter N. Robinson

    NUCLEIC ACIDS RESEARCH　45　(D1)　D865-D876　2017/01

    DOI： 10.1093/nar/gkw1039 　

    ISSN： 0305-1048

    eISSN： 1362-4962

  116. The Pre-Eclampsia Ontology: A Disease Ontology Representing the Domain Knowledge Specific to Pre-Eclampsia Peer-reviewed

    Satoshi Mizuno, Soichi Ogishima, Hidekazu Nishigori, Daniel G. Jamieson, Karin Verspoor, Hiroshi Tanaka, Nobuo Yaegashi, Jun Nakaya

    PLoS One　11　(10)　e0162828　2016/10

    DOI： 10.1371/journal.pone.0162828 　

    ISSN： 1932-6203

  117. The Tohoku Medical Megabank Project: Design and Mission Peer-reviewed

    Shinichi Kuriyama, Nobuo Yaegashi, Fuji Nagami, Tomohiko Arai, Yoshio Kawaguchi, Noriko Osumi, Masaki Sakaida, Yoichi Suzuki, Keiko Nakayama, Hiroaki Hashizume, Gen Tamiya, Hiroshi Kawame, Kichiya Suzuki, Atsushi Hozawa, Naoki Nakaya, Masahiro Kikuya, Hirohito Metoki, Ichiro Tsuji, Nobuo Fuse, Hideyasu Kiyomoto, Junichi Sugawara, Akito Tsuboi, Shinichi Egawa, Kiyoshi Ito, Koichi Chida, Tadashi Ishii, Hiroaki Tomita, Yasuyuki Taki, Naoko Minegishi, Naoto Ishii, Jun Yasuda, Kazuhiko Igarashi, Ritsuko Shimizu, Masao Nagasaki, Seizo Koshiba, Kengo Kinoshita, Soichi Ogishima, Takako Takai-Igarashi, Teiji Tominaga, Osamu Tanabe, Noriaki Ohuchi, Toru Shimosegawa, Shigeo Kure, Hiroshi Tanaka, Sadayoshi Ito, Jiro Hitomi, Kozo Tanno, Motoyuki Nakamura, Kuniaki Ogasawara, Seiichiro Kobayashi, Kiyomi Sakata, Mamoru Satoh, Atsushi Shimizu, Makoto Sasaki, Ryujin Endo, Kenji Sobue, Masayuki Yamamoto

    JOURNAL OF EPIDEMIOLOGY　26　(9)　493-511　2016/09

    DOI： 10.2188/jea.JE20150268 　

    ISSN： 0917-5040

  118. The structural origin of metabolic quantitative diversity Peer-reviewed

    Seizo Koshiba, Ikuko Motoike, Kaname Kojima, Takanori Hasegawa, Matsuyuki Shirota, Tomo Saito, Daisuke Saigusa, Inaho Danjoh, Fumiki Katsuoka, Soichi Ogishima, Yosuke Kawai, Yumi Yamaguchi-Kabata, Miyuki Sakurai, Sachiko Hirano, Junichi Nakata, Hozumi Motohashi, Atsushi Hozawa, Shinichi Kuriyama, Naoko Minegishi, Masao Nagasaki, Takako Takai-Igarashi, Nobuo Fuse, Hideyasu Kiyomoto, Junichi Sugawara, Yoichi Suzuki, Shigeo Kure, Nobuo Yaegashi, Osamu Tanabe, Kengo Kinoshita, Jun Yasuda, Masayuki Yamamoto

    SCIENTIFIC REPORTS　6　31463　2016/08

    DOI： 10.1038/srep31463 　

    ISSN： 2045-2322

  119. Network Analysis of a Comprehensive Knowledge Repository Reveals a Dual Role for Ceramide in Alzheimer's Disease Peer-reviewed

    Satoshi Mizuno, Soichi Ogishima, Kazuyuki Kitatani, Masataka Kikuchi, Hiroshi Tanaka, Nobuo Yaegashi, Jun Nakaya

    PLOS ONE　11　(2)　e0148431　2016/02

    DOI： 10.1371/journal.pone.0148431 　

    ISSN： 1932-6203

  120. Detection of periodic patterns in microarray data reveals novel oscillating transcripts of biological rhythms in Ciona intestinalis Peer-reviewed

    Hiromi Matsumae, Ryosuke Ishiwata, Toshifumi Minamoto, Norio Ishida, Soichi Ogishima, Hiroshi Tanaka

    Artificial Life and Robotics　20　(4)　347-352　2015/12

    DOI： 10.1007/s10015-015-0237-6 　

    ISSN： 1433-5298

    eISSN： 1614-7456

  121. Rare variant discovery by deep whole-genome sequencing of 1,070 Japanese individuals Peer-reviewed

    Masao Nagasaki, Jun Yasuda, Fumiki Katsuoka, Naoki Nariai, Kaname Kojima, Yosuke Kawai, Yumi Yamaguchi-Kabata, Junji Yokozawa, Inaho Danjoh, Sakae Saito, Yukuto Sato, Takahiro Mimori, Kaoru Tsuda, Rumiko Saito, Xiaoqing Pan, Satoshi Nishikawa, Shin Ito, Yoko Kuroki, Osamu Tanabe, Nobuo Fuse, Shinichi Kuriyama, Hideyasu Kiyomoto, Atsushi Hozawa, Naoko Minegishi, James Douglas Engel, Kengo Kinoshita, Shigeo Kure, Nobuo Yaegashi, Masayuki Yamamoto, Akito Tsuboi, Fuji Nagami, Hiroshi Kawame, Hiroaki Tomita, Ichiro Tsuji, Jun Nakaya, Junichi Sugawara, Kichiya Suzuki, Masahiro Kikuya, Michiaki Abe, Naoki Nakaya, Noriko Osumi, Riu Yamashita, Soichi Ogishima, Takako Takai, Teiji Tominaga, Yasuyuki Taki, Yoichi Suzuki

    Nature Communications　6　8018　2015/08/21

    Publisher: Nature Publishing Group

    DOI： 10.1038/ncomms9018 　

    ISSN： 2041-1723

    eISSN： 2041-1723

  122. Alzpathway, an updated map of curated signaling pathways: Towards deciphering Alzheimer's disease pathogenesis Peer-reviewed

    Soichi Ogishima, Satoshi Mizuno, Masataka Kikuchi, Akinori Miyashita, Ryozo Kuwano, Hiroshi Tanaka, Jun Nakaya

    Systems Biology of Alzheimer's Disease　1303　423-432　2015/08/02

    Publisher: Springer New York

    DOI： 10.1007/978-1-4939-2627-5_25 　

    ISSN： 1064-3745

  123. Network-based analysis for uncovering mechanisms underlying Alzheimer's disease Peer-reviewed

    Masataka Kikuchi, Soichi Ogishima, Satoshi Mizuno, Akinori Miyashita, Ryozo Kuwano, Jun Nakaya, Hiroshi Tanaka

    Systems Biology of Alzheimer's Disease　1303　479-491　2015/08/02

    Publisher: Springer New York

    DOI： 10.1007/978-1-4939-2627-5_29 　

    ISSN： 1064-3745

  124. Network biology approach to epithelial-mesenchymal transition in cancer metastasis: three stage theory Peer-reviewed

    Hiroshi Tanaka, Soichi Ogishima

    JOURNAL OF MOLECULAR CELL BIOLOGY　7　(3)　253-266　2015/06

    DOI： 10.1093/jmcb/mjv035 　

    ISSN： 1674-2788

    eISSN： 1759-4685

  125. Application of Intrinsic Subtype Classification To Microarray Data From a Set of Women With Mild and Severe Pre-Eclampsia. Peer-reviewed

    Satoshi Mizuno, Hidekazu Nishigori, Takashi Sugiyama, Soichi Ogishima, Jun Nakaya, Nobuo Yaegashi

    REPRODUCTIVE SCIENCES　22　385A-385A　2015/03

    ISSN： 1933-7191

    eISSN： 1933-7205

  126. Transcribed enhancers lead waves of coordinated transcription in transitioning mammalian cells Peer-reviewed

    Erik Arner, Carsten O. Daub, Kristoffer Vitting-Seerup, Robin Andersson, Berit Lilje, Finn Drablos, Andreas Lennartsson, Michelle Roennerblad, Olga Hrydziuszko, Morana Vitezic, Tom C. Freeman, Ahmad M. N. Alhendi, Peter Arner, Richard Axton, J. Kenneth Baillie, Anthony Beckhouse, Beatrice Bodega, James Briggs, Frank Brombacher, Margaret Davis, Michael Detmar, Anna Ehrlund, Mitsuhiro Endoh, Afsaneh Eslami, Michela Fagiolini, Lynsey Fairbairn, Geoffrey J. Faulkner, Carmelo Ferrai, Malcolm E. Fisher, Lesley Forrester, Daniel Goldowitz, Reto Guler, Thomas Ha, Mitsuko Hara, Meenhard Herlyn, Tomokatsu Ikawa, Chieko Kai, Hiroshi Kawamoto, Levon M. Khachigian, S. Peter Klinken, Soichi Kojima, Haruhiko Koseki, Sarah Klein, Niklas Mejhert, Ken Miyaguchi, Yosuke Mizuno, Mitsuru Morimoto, Kelly J. Morris, Christine Mummery, Yutaka Nakachi, Soichi Ogishima, Mariko Okada-Hatakeyama, Yasushi Okazaki, Valerio Orlando, Dmitry Ovchinnikov, Robert Passier, Margaret Patrikakis, Ana Pombo, Xian-Yang Qin, Sugata Roy, Hiroki Sato, Suzana Savvi, Alka Saxena, Anita Schwegmann, Daisuke Sugiyama, Rolf Swoboda, Hiroshi Tanaka, Andru Tomoiu, Louise N. Winteringham, Ernst Wolvetang, Chiyo Yanagi-Mizuochi, Misako Yoneda, Susan Zabierowski, Peter Zhang, Imad Abugessaisa, Nicolas Bertin, Alexander D. Diehl, Shiro Fukuda, Masaaki Furuno, Jayson Harshbarger, Akira Hasegawa, Fumi Hori, Sachi Ishikawa-Kato, Yuri Ishizu, Masayoshi Itoh, Tsugumi Kawashima, Miki Kojima, Naoto Kondo, Marina Lizio, Terrence F. Meehan, Christopher J. Mungall, Mitsuyoshi Murata, Hiromi Nishiyori-Sueki, Serkan Sahin, Sayaka Nagao-Sato, Jessica Severin, Michiel J. L. de Hoon, Jun Kawai, Takeya Kasukawa, Timo Lassmann, Harukazu Suzuki, Hideya Kawaji, Kim M. Summers, Christine Wells, David A. Hume, Alistair R. R. Forrest, Albin Sandelin, Piero Carninci, Yoshihide Hayashizaki

    SCIENCE　347　(6225)　1010-1014　2015/02

    DOI： 10.1126/science.1259418 　

    ISSN： 0036-8075

    eISSN： 1095-9203

  127. Modularity in the evolution of yeast protein interaction network. Peer-reviewed

    Ogishima S, Tanaka H, Nakaya J

    Bioinformation　11　(3)　127-130　2015

    DOI： 10.6026/97320630011127 　

  128. A method to associate all possible combinations of genetic and environmental factors using GxE landscape plot. Peer-reviewed

    Nagaie S, Ogishima S, Nakaya J, Tanaka H

    Bioinformation　11　(3)　161-164　2015

    DOI： 10.6026/97320630011161 　

  129. Implementation of linked data in the life sciences at BioHackathon 2011 Peer-reviewed

    Kiyoko F. Aoki-Kinoshita, Akira R. Kinjo, Mizuki Morita, Yoshinobu Igarashi, Yi-an Chen, Yasumasa Shigemoto, Takatomo Fujisawa, Yukie Akune, Takeo Katoda, Anna Kokubu, Takaaki Mori, Mitsuteru Nakao, Shuichi Kawashima, Shinobu Okamoto, Toshiaki Katayama, Soichi Ogishima

    JOURNAL OF BIOMEDICAL SEMANTICS　6　3　2015/01

    DOI： 10.1186/2041-1480-6-3 　

    ISSN： 2041-1480

  130. Integrated Database and Knowledge Base for Genomic Prospective Cohort Study in Tohoku Medical Megabank Toward Personalized Prevention and Medicine Peer-reviewed

    Soichi Ogishima, Takako Takai, Kazuro Shimokawa, Satoshi Nagaie, Hiroshi Tanaka, Jun Nakaya

    Studies in Health Technology and Informatics　216　1057　2015

    Publisher: IOS Press

    DOI： 10.3233/978-1-61499-564-7-1057 　

    ISSN： 1879-8365 0926-9630

    eISSN： 1879-8365

  131. Future Direction of IMIA Standardization. Report from the IMIA Standardization Working Group. Peer-reviewed

    Nakaya J, Kimura M, Ogishima S, Shabo A, Kim IK, Parisot C, de Faria Leao B

    Yearbook of medical informatics　9　105-109　2014/08

    DOI： 10.15265/IY-2014-0010 　

    ISSN： 0943-4747

    eISSN： 2364-0502

  132. Genes associated with the progression of neurofibrillary tangles in Alzheimer's disease Peer-reviewed

    A. Miyashita, H. Hatsuta, M. Kikuchi, A. Nakaya, Y. Saito, T. Tsukie, N. Hara, S. Ogishima, N. Kitamura, K. Akazawa, A. Kakita, H. Takahashi, S. Murayama, Y. Ihara, T. Ikeuchi, R. Kuwano

    TRANSLATIONAL PSYCHIATRY　4　e396　2014/06

    DOI： 10.1038/tp.2014.35 　

    ISSN： 2158-3188

  133. A promoter-level mammalian expression atlas. International-journal Peer-reviewed

    Alistair R R Forrest, Hideya Kawaji, Michael Rehli, J Kenneth Baillie, Michiel J L de Hoon, Vanja Haberle, Timo Lassmann, Ivan V Kulakovskiy, Marina Lizio, Masayoshi Itoh, Robin Andersson, Christopher J Mungall, Terrence F Meehan, Sebastian Schmeier, Nicolas Bertin, Mette Jørgensen, Emmanuel Dimont, Erik Arner, Christian Schmidl, Ulf Schaefer, Yulia A Medvedeva, Charles Plessy, Morana Vitezic, Jessica Severin, Colin A Semple, Yuri Ishizu, Robert S Young, Margherita Francescatto, Intikhab Alam, Davide Albanese, Gabriel M Altschuler, Takahiro Arakawa, John A C Archer, Peter Arner, Magda Babina, Sarah Rennie, Piotr J Balwierz, Anthony G Beckhouse, Swati Pradhan-Bhatt, Judith A Blake, Antje Blumenthal, Beatrice Bodega, Alessandro Bonetti, James Briggs, Frank Brombacher, A Maxwell Burroughs, Andrea Califano, Carlo V Cannistraci, Daniel Carbajo, Yun Chen, Marco Chierici, Yari Ciani, Hans C Clevers, Emiliano Dalla, Carrie A Davis, Michael Detmar, Alexander D Diehl, Taeko Dohi, Finn Drabløs, Albert S B Edge, Matthias Edinger, Karl Ekwall, Mitsuhiro Endoh, Hideki Enomoto, Michela Fagiolini, Lynsey Fairbairn, Hai Fang, Mary C Farach-Carson, Geoffrey J Faulkner, Alexander V Favorov, Malcolm E Fisher, Martin C Frith, Rie Fujita, Shiro Fukuda, Cesare Furlanello, Masaaki Furino, Jun-ichi Furusawa, Teunis B Geijtenbeek, Andrew P Gibson, Thomas Gingeras, Daniel Goldowitz, Julian Gough, Sven Guhl, Reto Guler, Stefano Gustincich, Thomas J Ha, Masahide Hamaguchi, Mitsuko Hara, Matthias Harbers, Jayson Harshbarger, Akira Hasegawa, Yuki Hasegawa, Takehiro Hashimoto, Meenhard Herlyn, Kelly J Hitchens, Shannan J Ho Sui, Oliver M Hofmann, Ilka Hoof, Furni Hori, Lukasz Huminiecki, Kei Iida, Tomokatsu Ikawa, Boris R Jankovic, Hui Jia, Anagha Joshi, Giuseppe Jurman, Bogumil Kaczkowski, Chieko Kai, Kaoru Kaida, Ai Kaiho, Kazuhiro Kajiyama, Mutsumi Kanamori-Katayama, Artem S Kasianov, Takeya Kasukawa, Shintaro Katayama, Sachi Kato, Shuji Kawaguchi, Hiroshi Kawamoto, Yuki I Kawamura, Tsugumi Kawashima, Judith S Kempfle, Tony J Kenna, Juha Kere, Levon M Khachigian, Toshio Kitamura, S Peter Klinken, Alan J Knox, Miki Kojima, Soichi Kojima, Naoto Kondo, Haruhiko Koseki, Shigeo Koyasu, Sarah Krampitz, Atsutaka Kubosaki, Andrew T Kwon, Jeroen F J Laros, Weonju Lee, Andreas Lennartsson, Kang Li, Berit Lilje, Leonard Lipovich, Alan Mackay-Sim, Ri-ichiroh Manabe, Jessica C Mar, Benoit Marchand, Anthony Mathelier, Niklas Mejhert, Alison Meynert, Yosuke Mizuno, David A de Lima Morais, Hiromasa Morikawa, Mitsuru Morimoto, Kazuyo Moro, Efthymios Motakis, Hozumi Motohashi, Christine L Mummery, Mitsuyoshi Murata, Sayaka Nagao-Sato, Yutaka Nakachi, Fumio Nakahara, Toshiyuki Nakamura, Yukio Nakamura, Kenichi Nakazato, Erik van Nimwegen, Noriko Ninomiya, Hiromi Nishiyori, Shohei Noma, Shohei Noma, Tadasuke Noazaki, Soichi Ogishima, Naganari Ohkura, Hiroko Ohimiya, Hiroshi Ohno, Mitsuhiro Ohshima, Mariko Okada-Hatakeyama, Yasushi Okazaki, Valerio Orlando, Dmitry A Ovchinnikov, Arnab Pain, Robert Passier, Margaret Patrikakis, Helena Persson, Silvano Piazza, James G D Prendergast, Owen J L Rackham, Jordan A Ramilowski, Mamoon Rashid, Timothy Ravasi, Patrizia Rizzu, Marco Roncador, Sugata Roy, Morten B Rye, Eri Saijyo, Antti Sajantila, Akiko Saka, Shimon Sakaguchi, Mizuho Sakai, Hiroki Sato, Suzana Savvi, Alka Saxena, Claudio Schneider, Erik A Schultes, Gundula G Schulze-Tanzil, Anita Schwegmann, Thierry Sengstag, Guojun Sheng, Hisashi Shimoji, Yishai Shimoni, Jay W Shin, Christophe Simon, Daisuke Sugiyama, Takaai Sugiyama, Masanori Suzuki, Naoko Suzuki, Rolf K Swoboda, Peter A C 't Hoen, Michihira Tagami, Naoko Takahashi, Jun Takai, Hiroshi Tanaka, Hideki Tatsukawa, Zuotian Tatum, Mark Thompson, Hiroo Toyodo, Tetsuro Toyoda, Elvind Valen, Marc van de Wetering, Linda M van den Berg, Roberto Verado, Dipti Vijayan, Ilya E Vorontsov, Wyeth W Wasserman, Shoko Watanabe, Christine A Wells, Louise N Winteringham, Ernst Wolvetang, Emily J Wood, Yoko Yamaguchi, Masayuki Yamamoto, Misako Yoneda, Yohei Yonekura, Shigehiro Yoshida, Susan E Zabierowski, Peter G Zhang, Xiaobei Zhao, Silvia Zucchelli, Kim M Summers, Harukazu Suzuki, Carsten O Daub, Jun Kawai, Peter Heutink, Winston Hide, Tom C Freeman, Boris Lenhard, Vladimir B Bajic, Martin S Taylor, Vsevolod J Makeev, Albin Sandelin, David A Hume, Piero Carninci, Yoshihide Hayashizaki

    Nature　507　(7493)　462-70　2014/03/27

    DOI： 10.1038/nature13182 　

    ISSN： 0028-0836

  134. BioHackathon series in 2011 and 2012: penetration of ontology and linked data in life science domains. International-journal

    Toshiaki Katayama, Mark D Wilkinson, Kiyoko F Aoki-Kinoshita, Shuichi Kawashima, Yasunori Yamamoto, Atsuko Yamaguchi, Shinobu Okamoto, Shin Kawano, Jin-Dong Kim, Yue Wang, Hongyan Wu, Yoshinobu Kano, Hiromasa Ono, Hidemasa Bono, Simon Kocbek, Jan Aerts, Yukie Akune, Erick Antezana, Kazuharu Arakawa, Bruno Aranda, Joachim Baran, Jerven Bolleman, Raoul Jp Bonnal, Pier Luigi Buttigieg, Matthew P Campbell, Yi-An Chen, Hirokazu Chiba, Peter Ja Cock, K Bretonnel Cohen, Alexandru Constantin, Geraint Duck, Michel Dumontier, Takatomo Fujisawa, Toyofumi Fujiwara, Naohisa Goto, Robert Hoehndorf, Yoshinobu Igarashi, Hidetoshi Itaya, Maori Ito, Wataru Iwasaki, Matúš Kalaš, Takeo Katoda, Taehong Kim, Anna Kokubu, Yusuke Komiyama, Masaaki Kotera, Camille Laibe, Hilmar Lapp, Thomas Lütteke, M Scott Marshall, Takaaki Mori, Hiroshi Mori, Mizuki Morita, Katsuhiko Murakami, Mitsuteru Nakao, Hisashi Narimatsu, Hiroyo Nishide, Yosuke Nishimura, Johan Nystrom-Persson, Soichi Ogishima, Yasunobu Okamura, Shujiro Okuda, Kazuki Oshita, Nicki H Packer, Pjotr Prins, Rene Ranzinger, Philippe Rocca-Serra, Susanna Sansone, Hiromichi Sawaki, Sung-Ho Shin, Andrea Splendiani, Francesco Strozzi, Shu Tadaka, Philip Toukach, Ikuo Uchiyama, Masahito Umezaki, Rutger Vos, Patricia L Whetzel, Issaku Yamada, Chisato Yamasaki, Riu Yamashita, William S York, Christian M Zmasek, Shoko Kawamoto, Toshihisa Takagi

    Journal of biomedical semantics　5　(1)　5-5　2014/02/05

    Publisher: Springer Science and Business Media LLC

    DOI： 10.1186/2041-1480-5-5 　

    ISSN： 2041-1480

    More details Close

    The application of semantic technologies to the integration of biological data and the interoperability of bioinformatics analysis and visualization tools has been the common theme of a series of annual BioHackathons hosted in Japan for the past five years. Here we provide a review of the activities and outcomes from the BioHackathons held in 2011 in Kyoto and 2012 in Toyama. In order to efficiently implement semantic technologies in the life sciences, participants formed various sub-groups and worked on the following topics: Resource Description Framework (RDF) models for specific domains, text mining of the literature, ontology development, essential metadata for biological databases, platforms to enable efficient Semantic Web technology development and interoperability, and the development of applications for Semantic Web data. In this review, we briefly introduce the themes covered by these sub-groups. The observations made, conclusions drawn, and software development projects that emerged from these activities are discussed.

  135. Identification of Unstable Network Modules Reveals Disease Modules Associated with the Progression of Alzheimer's Disease Peer-reviewed

    Masataka Kikuchi, Soichi Ogishima, Tadashi Miyamoto, Akinori Miyashita, Ryozo Kuwano, Jun Nakaya, Hiroshi Tanaka

    PLOS ONE　8　(11)　e76162　2013/11

    DOI： 10.1371/journal.pone.0076162 　

    ISSN： 1932-6203

  136. Analysis of L-glutamic acid fermentation by using a dynamic metabolic simulation model of Escherichia coli Peer-reviewed

    Yousuke Nishio, Soichi Ogishima, Masao Ichikawa, Yohei Yamada, Yoshihiro Usuda, Tadashi Masuda, Hiroshi Tanaka

    BMC SYSTEMS BIOLOGY　7　92　2013/09

    DOI： 10.1186/1752-0509-7-92 　

    ISSN： 1752-0509

  137. A Map of Alzheimer's Disease-Signaling Pathways: A Hope for Drug Target Discovery Peer-reviewed

    S. Ogishima, S. Mizuno, M. Kikuchi, A. Miyashita, R. Kuwano, H. Tanaka, J. Nakaya

    CLINICAL PHARMACOLOGY & THERAPEUTICS　93　(5)　399-401　2013/05

    DOI： 10.1038/clpt.2013.37 　

    ISSN： 0009-9236

  138. The 3rd DBCLS BioHackathon: improving life science data integration with Semantic Web technologies Peer-reviewed

    Toshiaki Katayama, Mark D. Wilkinson, Gos Micklem, Shuichi Kawashima, Atsuko Yamaguchi, Mitsuteru Nakao, Yasunori Yamamoto, Shinobu Okamoto, Kenta Oouchida, Hong-Woo Chun, Jan Aerts, Hammad Afzal, Erick Antezana, Kazuharu Arakawa, Bruno Aranda, Francois Belleau, Jerven Bolleman, Raoul J. P. Bonnal, Brad Chapman, Peter J. A. Cock, Tore Eriksson, Paul M. K. Gordon, Naohisa Goto, Kazuhiro Hayashi, Heiko Horn, Ryosuke Ishiwata, Eli Kaminuma, Arek Kasprzyk, Hideya Kawaji, Nobuhiro Kido, Young Joo Kim, Akira R. Kinjo, Fumikazu Konishi, Kyung-Hoon Kwon, Alberto Labarga, Anna-Lena Lamprecht, Yu Lin, Pierre Lindenbaum, Luke McCarthy, Hideyuki Morita, Katsuhiko Murakami, Koji Nagao, Kozo Nishida, Kunihiro Nishimura, Tatsuya Nishizawa, Soichi Ogishima, Keiichiro Ono, Kazuki Oshita, Keun-Joon Park, Pjotr Prins, Taro L. Saito, Matthias Samwald, Venkata P. Satagopam, Yasumasa Shigemoto, Richard Smith, Andrea Splendiani, Matthias Samwald, Venkata P. Satagopam, Yasumasa Shigemoto, Richard Smith, Andrea Splendiani, Hideaki Sugawara, James Taylor, Rutger A. Vos, David Withers, Chisato Yamasaki, Christian M. Zmasek, Shoko Kawamoto, Kosaku Okubo, Kiyoshi Asai, Toshihisa Takagi

    JOURNAL OF BIOMEDICAL SEMANTICS　4　(1)　6　2013/02

    DOI： 10.1186/2041-1480-4-6 　

    ISSN： 2041-1480

  139. Interactive platform for semantic gene expression analysis of Alzheimer's disease

    Toshiaki Katayama, Masataka Kikuchi, Soichi Ogishima

    CEUR Workshop Proceedings　1114　2013

    Publisher: CEUR-WS

    ISSN： 1613-0073

  140. Online population-based patient registry to collect and share health-related data of rare disease patients

    Mizuki Morita, Soichi Ogishima, Kunihiro Nishimura, Eiji Aramaki, Tateo Ito

    AAAI Spring Symposium - Technical Report　SS-13-03　65-66　2013

  141. Human mesenchymal stem cells in synovial fluid increase in the knee with degenerated cartilage and osteoarthritis

    Ichiro Sekiya, Miyoko Ojima, Shiro Suzuki, Mika Yamaga, Masafumi Horie, Hideyuki Koga, Kunikazu Tsuji, Ken Miyaguchi, Soichi Ogishima, Hiroshi Tanaka, Takeshi Muneta

    Journal of Orthopaedic Research　30　(6)　943-949　2012/06

    DOI： 10.1002/jor.22029 　

    ISSN： 0736-0266 1554-527X

  142. Human mesenchymal stem cells in synovial fluid increase in the knee with degenerated cartilage and osteoarthritis Peer-reviewed

    Ichiro Sekiya, Miyoko Ojima, Shiro Suzuki, Mika Yamaga, Masafumi Horie, Hideyuki Koga, Kunikazu Tsuji, Ken Miyaguchi, Soichi Ogishima, Hiroshi Tanaka, Takeshi Muneta

    JOURNAL OF ORTHOPAEDIC RESEARCH　30　(6)　943-949　2012/06

    DOI： 10.1002/jor.22029 　

    ISSN： 0736-0266

  143. Linked Open Rare Disease Data: Linking Rare Disease Data by Linked Open Data

    OGISHIMA Soichi, MORITA Mizuki, MIYAMOTO Tadashi, NISHIMURA Yukiko, ARAMAKI Eiji, TANAKA Hiroshi

    JSAI Technical Report, Type 2 SIG　2012　(SWO-027)　02　2012/05/09

    Publisher: The Japanese Society for Artificial Intelligence

    DOI： 10.11517/jsaisigtwo.2012.swo-027_02 　

    eISSN： 2436-5556

    More details Close

    We have been constructing the Linked Open Rare Disease Data (LORDD) by linking rare disease data using Linked Open Data technologies. One of preliminary LORDD services is to present trends of rare disease studies based on published papers. Here we show a use case of the LORDD service for archiving cooperative studies among patients, reseachers, doctors, drug firms and governments.

  144. Hub-Centered Gene Network Reconstruction Using Automatic Relevance Determination Peer-reviewed

    Matthias Boeck, Soichi Ogishima, Hiroshi Tanaka, Stefan Kramer, Lars Kaderali

    PLOS ONE　7　(5)　e35077　2012/05

    DOI： 10.1371/journal.pone.0035077 　

    ISSN： 1932-6203

  145. AlzPathway: a comprehensive map of signaling pathways of Alzheimer's disease Peer-reviewed

    Satoshi Mizuno, Risa Iijima, Soichi Ogishima, Masataka Kikuchi, Yukiko Matsuoka, Samik Ghosh, Tadashi Miyamoto, Akinori Miyashita, Ryozo Kuwano, Hiroshi Tanaka

    BMC SYSTEMS BIOLOGY　6　52　2012/05

    DOI： 10.1186/1752-0509-6-52 　

    ISSN： 1752-0509

  146. The 2nd DBCLS BioHackathon: interoperable bioinformatics Web services for integrated applications. International-journal Peer-reviewed

    Toshiaki Katayama, Mark D Wilkinson, Rutger Vos, Takeshi Kawashima, Shuichi Kawashima, Mitsuteru Nakao, Yasunori Yamamoto, Hong-Woo Chun, Atsuko Yamaguchi, Shin Kawano, Jan Aerts, Kiyoko F Aoki-Kinoshita, Kazuharu Arakawa, Bruno Aranda, Raoul Jp Bonnal, José M Fernández, Takatomo Fujisawa, Paul Mk Gordon, Naohisa Goto, Syed Haider, Todd Harris, Takashi Hatakeyama, Isaac Ho, Masumi Itoh, Arek Kasprzyk, Nobuhiro Kido, Young-Joo Kim, Akira R Kinjo, Fumikazu Konishi, Yulia Kovarskaya, Greg von Kuster, Alberto Labarga, Vachiranee Limviphuvadh, Luke McCarthy, Yasukazu Nakamura, Yunsun Nam, Kozo Nishida, Kunihiro Nishimura, Tatsuya Nishizawa, Soichi Ogishima, Tom Oinn, Shinobu Okamoto, Shujiro Okuda, Keiichiro Ono, Kazuki Oshita, Keun-Joon Park, Nicholas Putnam, Martin Senger, Jessica Severin, Yasumasa Shigemoto, Hideaki Sugawara, James Taylor, Oswaldo Trelles, Chisato Yamasaki, Riu Yamashita, Noriyuki Satoh, Toshihisa Takagi

    Journal of biomedical semantics　2　4-4　2011/08/02

    DOI： 10.1186/2041-1480-2-4 　

    ISSN： 2041-1480

  147. Omics-based identification of pathophysiological processes. Peer-reviewed

    Tanaka H, Ogishima S

    Methods in molecular biology (Clifton, N.J.)　719　499-509　2011

    DOI： 10.1007/978-1-61779-027-0_23 　

    ISSN： 1064-3745

  148. Suppression of the novel ER protein Maxer by mutant ataxin-1 in Bergman glia contributes to non-cell-autonomous toxicity Peer-reviewed

    Hiroki Shiwaku, Natsue Yoshimura, Takuya Tamura, Masaki Sone, Soichi Ogishima, Kei Watase, Kazuhiko Tagawa, Hitoshi Okazawa

    EMBO JOURNAL　29　(14)　2446-2460　2010/07

    DOI： 10.1038/emboj.2010.116 　

    ISSN： 0261-4189

  149. Combined in silico and invivo analyses reveal role of Hes1 in taste cell differentiation Peer-reviewed

    Masato Ota, Yoshiyuki Kaneko, Kaori Kondo, Soichi Ogishima, Hiroshi Tanaka, Sachiko Iseki, Takashi Kondo

    MECHANISMS OF DEVELOPMENT　126　S158-S158　2009/08

    DOI： 10.1016/j.mod.2009.06.356 　

    ISSN： 0925-4773

  150. Prognostic value of matrix Gla protein in breast cancer Peer-reviewed

    Keiko Yoshimura, Kengo Takeuchi, Koichi Nagasaki, Soichi Ogishima, Hiroshi Tanaka, Takuji Iwase, Futoshi Akiyama, Yoshikazu Kuroda, Yoshio Miki

    MOLECULAR MEDICINE REPORTS　2　(4)　549-553　2009/07

    DOI： 10.3892/mmr_00000135 　

    ISSN： 1791-2997

  151. Combined In Silico and In Vivo Analyses Reveal Role of Hes1 in Taste Cell Differentiation Peer-reviewed

    Masato S. Ota, Yoshiyuki Kaneko, Kaori Kondo, Soichi Ogishima, Hiroshi Tanaka, Kazuhiro Eto, Takashi Kondo

    PLOS GENETICS　5　(4)　e1000443　2009/04

    DOI： 10.1371/journal.pgen.1000443 　

    ISSN： 1553-7390

  152. BioCichlid: central dogma-based 3D visualization system of time-course microarray data on a hierarchical biological network Peer-reviewed

    Ryosuke R. Ishiwata, Masaki S. Morioka, Soichi Ogishima, Hiroshi Tanaka

    BIOINFORMATICS　25　(4)　543-544　2009/02

    DOI： 10.1093/bioinformatics/btp008 　

    ISSN： 1367-4803

  153. Missing link in the evolution of Hox clusters Peer-reviewed

    Soichl Ogishima, Hiroshi Tanaka

    GENE　387　(1-2)　21-30　2007/01

    DOI： 10.1016/j.gene.2006.08.011 　

    ISSN： 0378-1119

  154. 1P574 Mathematical modeling reveals nonlinear mechanism in cytochrome-c induced apoptosis(27. Molecular dynamics simulation,Poster Session,Abstract,Meeting Program of EABS & BSJ 2006)

    Ishiwata Ryosuke, Morioka Masaki, Ogishima Soichi, Tanaka Hiroshi

    Seibutsu Butsuri　46　(2)　S290　2006

    Publisher: The Biophysical Society of Japan General Incorporated Association

    DOI： 10.2142/biophys.46.S290_2 　

  155. 2P433 Modeling the emergence of cliques in the protein interaction networks(48. Bioinformatics, genomics and proteomics (II),Poster Session,Abstract,Meeting Program of EABS & BSJ 2006)

    Hase Takeshi, Niimura Yoshihito, Ogishima Soichi, Kaminuma Tuguchika, Tanaka Hiroshi

    Seibutsu Butsuri　46　(2)　S404　2006

    Publisher: The Biophysical Society of Japan General Incorporated Association

    DOI： 10.2142/biophys.46.S404_1 　

  156. (proceedings) Molecular Evolutionary Analysis of Yeast Protein Interaction Network

    Ogishima S, Hase T, Nakagawa S, Suzuki Y, Tanaka H

    World Academy of Science, Engineering and Technology （proceedings)　11　69-72　2005

  157. Molecular Evolutionary Analysis of Yeast Protein Interaction Network Peer-reviewed

    Soichi Ogishima, Takeshi Hase, So Nakagawa, Yasuhiro Suzuki, Hiroshi Tanaka

    PROCEEDINGS OF WORLD ACADEMY OF SCIENCE, ENGINEERING AND TECHNOLOGY, VOL 6　1　(11)　245-248　2005

  158. (proceedins)The analysis between functions and densities in yeast intercomplex protein-protein interactions

    Nakagawa S, Ogishima S, Hase T, Suzuki Y, Tanaka H

    The Fifteenth International conference on Genome Informatics (proceedings)　131-1,2　2004

  159. Longitudinal phylogenetic tree of within-host viral evolution from noncontemporaneous samples: a distance-based sequential-linking method Peer-reviewed

    FR Ren, S Ogishima, H Tanaka

    GENE　317　(1-2)　89-95　2003/10

    DOI： 10.1016/S0378-1119(03)00656-5 　

    ISSN： 0378-1119

  160. Standardized phylogenetic tree: A reference to discover functional evolution Peer-reviewed

    T Endo, S Ogishima, H Tanaka

    JOURNAL OF MOLECULAR EVOLUTION　57　S174-S181　2003

    DOI： 10.1007/s00239-003-0025-0 　

    ISSN： 0022-2844

  161. ETools: Tools to Handle Biological Sequences and Alignments for Evolutionary Studies

    Endo Toshinori, Ogishima Soichi, Tanaka Hiroshi

    GI　13　543-544　2002

    Publisher: Japanese Society for Bioinformatics

    DOI： 10.11234/gi1990.13.543 　

    ISSN： 0919-9454

  162. Reconstruction and Analysis of Within-host Longitudinal HIV-1 Evolution by a Distance-based Sequential-linking Algorithm Peer-reviewed

    Ogishima Soichi, Ren Fengrong, Tanaka Hiroshi

    Chem-Bio Informatics Journal　1　(2)　73-83　2001

    Publisher: Chem-Bio Informatics Society

    DOI： 10.1273/cbij.1.73 　

    ISSN： 1347-6297

  163. Inference and prediction of courses of the diseases caused by pathologic viruses by estimating molecular evolution of within-host virus Peer-reviewed

    FR Ren, S Ogishima, H Tanaka

    MEDINFO 2001: PROCEEDINGS OF THE 10TH WORLD CONGRESS ON MEDICAL INFORMATICS, PTS 1 AND 2　84　(Pt 2)　979-983　2001

    DOI： 10.3233/978-1-60750-928-8-979 　

    ISSN： 0926-9630

  164. A new algorithm for analysis of within-host HIV-1 evolution. Peer-reviewed

    Ren F, Ogishima S, Tanaka H

    Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing　595-605　2001

    ISSN： 2335-6936

  165. Standardized Phylogenetic Tree

    Endo Toshinori, Ogishima Soichi, Tanaka Hiroshi

    GI　11　404-405　2000

    Publisher: Japanese Society for Bioinformatics

    DOI： 10.11234/gi1990.11.404 　

    ISSN： 0919-9454

  166. A Sequential-Linking Method for Analysis of Within-Host Viral Evolution

    Ren Fengrong, Ogishima Soichi, Tanaka Hiroshi

    GI　11　408-409　2000

    Publisher: Japanese Society for Bioinformatics

    DOI： 10.11234/gi1990.11.408 　

    ISSN： 0919-9454

Show all ︎Show first 5

Misc. 128

  1. バイオバンク・ネットワーク~ブース出展におけるバイオバンク利活用促進について

    長神風二, 井上真季子, 笠原直子, 永家聖, 信國宇洋, 大根田絹子, 荻島創一

    日本遺伝子診療学会大会プログラム・抄録集　30th　2023

  2. 本邦における鉄代謝異常に伴う貧血に関する包括的疫学研究

    藤原亨, 大根田絹子, 佐々木克幸, 青木裕一, 工藤久智, 勝岡史城, 熊田和貴, 萩島創一, 山本雅之, 張替秀郎, 張替秀郎

    日本鉄バイオサイエンス学会学術集会プログラム・抄録集　46th　2022

  3. Exploration of BRCA1/2 gene variants in a general population cohort and return of genomic results to the participants

    徳永英樹, 安田純, 島田宗昭, 濱中洋平, 重田昌吾, 布施昇男, 勝岡史城, 荻島創一, 荻島創一, 山口由美, 寳澤篤, 川目裕, 大根田絹子, 青木洋子, 山本雅之, 八重樫伸生

    日本癌学会学術総会抄録集(Web)　81st　2022

  4. 日本の難病に関する中心的基盤となる難病オントロジーNANDOと難病ポータルサイトNanbyoDataの正式リリース

    仁宮 洸太, 高月 照江, 菊池 敦生, 櫛田 達矢, 山田 涼太, 浅野 由衣, 山本 泰智, Orion Buske, 片山 俊明, 桝屋 啓志, 川島 秀一, 荻島 創一, 藤原 豊史

    トーゴーの日2021　1　2021/10/05

    Publisher: バイオサイエンスデータベースセンター

    DOI： 10.18908/togo2021.p019 　

  5. Construction of system to collect regional medical data that will serve as a foundation for the development of AI in medical care, and verification of the possibility of the AI remote diagnosis

    横山悠, 竹田徳泰, 藤井進, 藤井進, 中村直毅, 井戸敬介, 桐山卓也, 大槻昌人, 木川勉, 荻島創一, 中山雅晴, 中山雅晴, 中山雅晴, 中澤徹

    医療情報学連合大会論文集(CD-ROM)　41st　2021

    ISSN： 2433-698X

  6. 【婦人科医が知っておくべきがん遺伝子パネル検査の基礎知識】研究資源としてのがん組織・がんオミックス解析データ がんゲノム医療におけるバイオバンキングの役割

    島田 宗昭, 荻島 創一, 八重樫 伸生, 山本 雅之

    産婦人科の実際　69　(7)　755-759　2020/07

    Publisher: 金原出版(株)

    ISSN： 0558-4728

  7. Standardization of clinical sequence data

    荻島創一, 今井健, 吉田輝彦, 小原収, 堤正好, 古田耕, 中込英人, 西村邦裕

    医療情報学連合大会論文集(CD-ROM)　40th　2020

    ISSN： 2433-698X

  8. Standardization and Sharing of Genomic and Phenotypic Data Toward Big Data Analysis of Cancer Genomic Medicine

    20　(1)　6-8　2020

    Publisher: The Japanese Society for Hereditary Tumors

    DOI： 10.18976/jsht.20.1_6 　

    ISSN： 2435-6808

    eISSN： 2435-6808

    More details Close

    The standardization and data sharing of genomic and phenotypic data for big data analysis in cancer genome medicine has become important. In particular, the number of genomic data being sequenced within the framework of medicine is increasing rapidly, and responsible sharing of clinical sequence data is a challenge. I outline new schemes for sharing genomic and phenotypic data, such as cloud computing, data access control through authentication, new forms of exchange of phenotypic information, and standardization of genomic data through clinical sequencing.

  9. ゲノム・オミクス情報の収集と利活用に向けて 国内外のゲノム医療の研究開発におけるゲノム・オミクス情報の収集と利活用

    荻島 創一

    医療情報学連合大会論文集　39回　224-224　2019/11

    Publisher: (一社)日本医療情報学会

    ISSN： 1347-8508

  10. ゲノムワイド遺伝子多型データを用いた機械学習によるうつ状態脆弱性の予測

    高橋 雄太, 植木 優夫, 田宮 元, 荻島 創一, 長神 風二, 福本 健太郎, 大塚 耕太郎, 山本 雅之, 富田 博秋

    精神神経学雑誌　(2019特別号)　S609-S609　2019/06

    Publisher: (公社)日本精神神経学会

    ISSN： 0033-2658

  11. 東日本大震災による家屋損壊程度と過敏性腸症候群の関連

    永家聖, 中谷直樹, 田中由佳里, 金澤素, 荻島創一, 高井貴子, 中村智洋, 土屋菜歩, 平田匠, 成田暁, 小暮真奈, 栗山進一, 田中博, 辻一郎, 呉繁夫, 寳澤篤, 福土審

    日本疫学会学術総会講演集(Web)　29th　149 (WEB ONLY)　2019/01/30

  12. Towards Genomic or Omics Data Collection and Utilization

    藤田卓仙, 藤田卓仙, 山本奈津子, 岡田随象, 川嶋実苗, 荻島創一

    医療情報学連合大会論文集(CD-ROM)　39th　2019

    ISSN： 2433-698X

  13. 【人工知能(AI)と小児医療】遺伝子診断・ゲノム医療 大量の遺伝子データの分析、疾患レジストリの応用

    荻島 創一

    小児内科　51　(1)　91-97　2019/01

    Publisher: (株)東京医学社

    ISSN： 0385-6305

  14. 妊娠高血圧症候群(HDP)患者の病態分類のためのフェノタイピングアルゴリズムの開発

    水野 聖士, 和形 麻衣子, 永家 聖, 田宮 元, 栗山 進一, 八重樫 伸生, 菅原 準一, 荻島 創一

    日本妊娠高血圧学会雑誌　25　94-94　2018/11

    Publisher: 日本妊娠高血圧学会

    ISSN： 1880-3172

  15. 遠位型ミオパチー患者における健康関連QOLと介助・介護ニーズの実態と関連 2)

    江本駿, 江本駿, 若宮有希, 織田友理子, 荻島創一, 西村由希子

    日本筋学会学術集会プログラム・抄録集　4回　184-184　2018/08

    Publisher: 日本筋学会

    ISSN： 2433-975X

  16. 遠位型ミオパチー患者における健康関連QOLと介助・介護ニーズの実態と関連 1)

    西村由希子, 若宮有希, 織田友理子, 荻島創一, 江本駿, 江本駿

    日本筋学会学術集会プログラム・抄録集　4回　183-183　2018/08

    Publisher: 日本筋学会

    ISSN： 2433-975X

  17. Variants of uncertain significance of the cancer-predisposing genes in two thousand Japanese whole-genome sequencing data

    Jun Yasuda, Keita Iida, Kazuki Kumada, Soichi Ogishima, Yusuke Shibuya, Hideki Tokunaga, Nobuo Yaegashi

    CANCER RESEARCH　78　(13)　2018/07

    DOI： 10.1158/1538-7445.AM2018-4465 　

    ISSN： 0008-5472

    eISSN： 1538-7445

  18. Estimating frequency of pathogenic variants in a Japanese population by using the whole-genome reference panel of ToMMo

    Yumi Yamaguchi-Kabata, Jun Yasuda, Osamu Tanabe, Yoichi Suzuki, Hiroshi Kawame, Nobuo Fuse, Masao Nagasaki, Yosuke Kawai, Kaname Kojima, Fumiki Katsuoka, Sakae Saito, Inaho Danjoh, Ikuko N. Motoike, Riu Yamashita, Seizo Koshiba, Daisuke Saigusa, Gen Tamiya, Shigeo Kure, Nobuo Yaegashi, Yoshio Kawaguchi, Fuji Nagami, Shinichi Kuriyama, Junichi Sugawara, Naoko Minegishi, Atsushi Hozawa, Soichi Ogishima, Hideyasu Kiyomoto, Takako Takai-Igarashi, Kengo Kinoshita, Masayuki Yamamoto

    HUMAN GENOMICS　12　2018/03

    ISSN： 1473-9542

    eISSN： 1479-7364

  19. 妊娠高血圧症候群(HDP)フェノタイピングのためのアルゴリズムの検討

    水野聖士, 永家聖, 飯田渓太, 笠原直子, 田宮元, 栗山進一, 八重樫伸生, 田中博, 菅原準一, 荻島創一

    日本疫学会学術総会講演集(Web)　28th　133 (WEB ONLY)　2018/02/01

  20. Trend Review〈続〉改正個人情報保護法でゲノム研究はどう変わるか?

    山本奈津子, 川嶋実苗, 清水佳奈, 片山俊明, 荻島創一

    実験医学　36　(13)　2018

    ISSN： 0288-5514

  21. 未来志向型ゲノム研究ガバナンスのためのELSIの分析と俯瞰

    古結敦士, 戸谷洋志, 小門穂, 大橋範子, 奥井ひかり, 相澤弥生, 荻島創一, 川嶋実苗, 片山俊明, 山本奈津子, 岡田随象, 長神風二, 加藤和人

    日本人類遺伝学会大会プログラム・抄録集　63rd　2018

  22. 大動脈解離・大動脈拡張症・大動脈瘤と診断されたマルファン症候群患者の就労実態調査

    江本駿, 猪井佳子, 関良介, 荻島創一, 西村由希子

    日本成人先天性心疾患学会雑誌(Web)　7　(1)　141-141　2018/01

    Publisher: 日本成人先天性心疾患学会

  23. ゲノム医療研究におけるPhenotyping

    荻島創一

    医療情報学連合大会プログラム・抄録集　37th　203　2017/11/01

  24. 東北メディカル・メガバンクにおける過敏性腸症候群の有病割合:地域住民コホート調査

    永家聖, 中谷直樹, 田中由佳里, 金澤素, 金澤素, 荻島創一, 高井貴子, 中村智洋, 土屋菜歩, 成田暁, 栗山進一, 田中博, 辻一郎, 呉繁夫, 寳澤篤, 福土審

    日本公衆衛生学会総会抄録集　76回　395-395　2017/10

    Publisher: 日本公衆衛生学会

    ISSN： 1347-8060

  25. 疾患概念を構造化した妊娠高血圧腎症オントロジー(PEO)の開発

    水野聖士, 西郡秀和, 和形麻衣子, 斎藤昌利, 菅原準一, 菅原準一, 田中博, 八重樫伸生, 八重樫伸生, 荻島創一

    日本妊娠高血圧学会雑誌　24　68-68　2017/09

    Publisher: (一社)日本妊娠高血圧学会

    ISSN： 1880-3172

  26. プライバシ保護ゲノム解析のための秘密計算フィッシャー正確検定の実装評価

    長谷川 聡, 濱田 浩気, 三澤 計治, 千田 浩司, 荻島 創一, 長﨑 正朗

    マルチメディア，分散協調とモバイルシンポジウム2017論文集　(2017)　430-437　2017/06/21

  27. プライバシ保護ゲノム解析のための秘密計算フィッシャー正確検定の実装評価

    長谷川聡, 濱田浩気, 三澤計治, 三澤計治, 千田浩司, 荻島創一, 荻島創一, 長崎正朗, 長崎正朗

    情報処理学会シンポジウムシリーズ(CD-ROM)　2017　(1)　430‐437　2017/06/21

    ISSN： 1882-0840

  28. 三世代コホート調査における調査票結果回付における情報管理について

    永家聖, 永家聖, 下川和郎, 佐藤ゆき, 石黒真美, 水野聖士, 宮下真子, 山中千鶴, 目時弘仁, 荻島創一, 高井貴子, 栗山進一, 田中博

    日本疫学会学術総会講演集(Web)　27th　116 (WEB ONLY)　2017/01/25

  29. 改正個人情報保護法でゲノム研究はどう変わるか?-個人識別符号・要配慮情報としてのゲノムデータ

    清水佳奈, 山本奈津子, 川嶋実苗, 片山俊明, 荻島創一

    実験医学　35　(4)　2017

    ISSN： 0288-5514

  30. 患者団体等が主体的に運用する疾患横断的な患者レジストリのデータの収集・分析による難病患者のQOL向上及び政策支援のための基礎的知見の収集 今後の課題・展望

    荻島創一, 森幸子, 西村邦裕, 安念潤司, 有馬隆博, 森崎隆幸, 鈴木登, 森まどか, 平田恭信, 三村秀文, 猪井佳子, 織田友理子, 近藤健一, 和田美紀, 阿部香織, 西村由希子, 江本駿

    患者団体等が主体的に運用する疾患横断的な患者レジストリのデータの収集・分析による難病患者のQOL向上及び政策支援のためのQOL評価基準の策定および基礎的知見の収集 平成28年度 総括研究報告書(Web)　2017

  31. 複数の研究機関が持つゲノムデータを相互に開示せず分析する解析手法を開発

    三澤計治, 三澤計治, 長谷川聡, 濱田浩気, 千田浩司, 荻島創一, 荻島創一, 長崎正朗, 長崎正朗

    日本人類遺伝学会大会プログラム・抄録集　62nd　295　2017

  32. 患者団体等が主体的に運用する疾患横断的な患者レジストリのデータの収集・分析による難病患者のQOL向上及び政策支援のためのQOL評価基準の策定および基礎的知見の収集 平成28年度

    荻島創一

    患者団体等が主体的に運用する疾患横断的な患者レジストリのデータの収集・分析による難病患者のQOL向上及び政策支援のためのQOL評価基準の策定および基礎的知見の収集 平成28年度 総合研究報告書(Web)　WEB ONLY　2017

  33. バイオリソースと診療情報との結合 収集から連携へ

    美代 賢吾, 小南 亮太, 渡辺 浩, 森田 瑞樹, 荻島 創一, 島貫 秀之

    医療情報学連合大会論文集　36回　(1)　232-234　2016/11

    Publisher: (一社)日本医療情報学会

    ISSN： 1347-8508

  34. 個人情報保護法改正の影響を考える

    藤田 卓仙, 湯地 晃一郎, 荻島 創一, 三井 純, 鈴木 穣, 上原 哲太郎, 山本 奈津子, 川嶋 実苗, 鈴木 正朝

    医療情報学連合大会論文集　36回　(1)　202-203　2016/11

    Publisher: (一社)日本医療情報学会

    ISSN： 1347-8508

  35. Impacts of the changing rules in the Personal Infromation Protection laws

    藤田卓仙, 湯地晃一郎, 荻島創一, 三井純, 鈴木穣, 上原哲太郎, 山本奈津子, 川嶋実苗, 鈴木正朝

    医療情報学　36　(Supplement 1)　202‐203　2016/11/01

    ISSN： 0289-8055

  36. A Linkage between Bio-resources and Patient Clinical Information; Shifting from Collection to Relationships

    美代賢吾, 小南亮太, 渡辺浩, 森田瑞樹, 荻島創一, 島貫秀之

    医療情報学　36　(Supplement 1)　232‐234　2016/11/01

    ISSN： 0289-8055

  37. 希少・難治性疾患患者レジストリJ‐RAREによるQOL調査と研究促進のための情報提供へ向けた取り組み

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    日本難病医療ネットワーク学会機関誌　4　(1)　79-79　2016/11

    Publisher: 日本難病医療ネットワーク学会

    ISSN： 2188-1006

  38. Privacy Preserving Fisher's Exact Test for GWAS

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    電子情報通信学会技術研究報告 = IEICE technical report : 信学技報　116　(132)　259-266　2016/07/14

    Publisher: 電子情報通信学会

    ISSN： 0913-5685

  39. Privacy Preserving Fisher's Exact Test(2)For Large Samples

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    電子情報通信学会技術研究報告 = IEICE technical report : 信学技報　116　(132)　253-258　2016/07/14

    Publisher: 電子情報通信学会

    ISSN： 0913-5685

  40. Privacy Preserving Fisher's Exact Test(1)For Small Samples

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    電子情報通信学会技術研究報告 = IEICE technical report : 信学技報　116　(132)　245-251　2016/07/14

    Publisher: 電子情報通信学会

    ISSN： 0913-5685

  41. Privacy Preserving Fisher's Exact Test for GWAS

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    電子情報通信学会技術研究報告 = IEICE technical report : 信学技報　116　(131)　259-266　2016/07/14

    Publisher: 電子情報通信学会

    ISSN： 0913-5685

  42. Privacy Preserving Fisher's Exact Test(2)For Large Samples

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    電子情報通信学会技術研究報告 = IEICE technical report : 信学技報　116　(131)　253-258　2016/07/14

    Publisher: 電子情報通信学会

    ISSN： 0913-5685

  43. Privacy Preserving Fisher's Exact Test(1)For Small Samples

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    電子情報通信学会技術研究報告 = IEICE technical report : 信学技報　116　(131)　245-251　2016/07/14

    Publisher: 電子情報通信学会

    ISSN： 0913-5685

  44. Privacy Preserving Fisher's Exact Test for GWAS

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    電子情報通信学会技術研究報告 = IEICE technical report : 信学技報　116　(130)　259-266　2016/07/14

    Publisher: 電子情報通信学会

    ISSN： 0913-5685

  45. Privacy Preserving Fisher's Exact Test(2)For Large Samples

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    電子情報通信学会技術研究報告 = IEICE technical report : 信学技報　116　(130)　253-258　2016/07/14

    Publisher: 電子情報通信学会

    ISSN： 0913-5685

  46. Privacy Preserving Fisher's Exact Test(1)For Small Samples

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    電子情報通信学会技術研究報告 = IEICE technical report : 信学技報　116　(130)　245-251　2016/07/14

    Publisher: 電子情報通信学会

    ISSN： 0913-5685

  47. Privacy Preserving Fisher's Exact Test for GWAS

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    電子情報通信学会技術研究報告 = IEICE technical report : 信学技報　116　(129)　259-266　2016/07/14

    Publisher: 電子情報通信学会

    ISSN： 0913-5685

  48. Privacy Preserving Fisher's Exact Test(2)For Large Samples

    濱田 浩気, 長谷川 聡, 千田 浩司, 荻島 創一, 三澤 計治, 長崎 正朗

    電子情報通信学会技術研究報告 = IEICE technical report : 信学技報　116　(129)　253-258　2016/07/14

    Publisher: 電子情報通信学会

    ISSN： 0913-5685

  49. Privacy Preserving Fisher's Exact Test(1)For Small Samples

    千田 浩司, 長谷川 聡, 濱田 浩気, 荻島 創一, 三澤 計治, 長﨑 正朗

    電子情報通信学会技術研究報告 = IEICE technical report : 信学技報　116　(129)　245-251　2016/07/14

    Publisher: 電子情報通信学会

    ISSN： 0913-5685

  50. 秘密計算フィッシャー正確検定(2) 標本数が多い場合

    濱田浩気, 長谷川聡, 千田浩司, 荻島創一, 荻島創一, 三澤計治, 三澤計治, 長崎正朗, 長崎正朗

    電子情報通信学会技術研究報告　116　(130(SITE2016 7-31))　253‐258　2016/07/07

    ISSN： 0913-5685

  51. 喫煙関連腹部大動脈瘤の遺伝子セットエンリッチメント解析

    沢辺 元司, 荻島 創一, 周 赫英, 森 聖二郎, 田中 雅嗣, 三重野 牧子, 新井 冨生, 前田 裕子, 村松 正明

    日本老年医学会雑誌　53　(Suppl.)　112-112　2016/05

    Publisher: (一社)日本老年医学会

    ISSN： 0300-9173

  52. 喫煙関連腹部大動脈瘤の遺伝子セットエンリッチメント解析

    沢辺元司, 荻島創一, 周赫英, 森聖二郎, 田中雅嗣, 三重野牧子, 新井冨生, 前田裕子, 村松正明

    日本老年医学会雑誌　53　(Suppl.)　174-175　2016/05

    Publisher: (一社)日本老年医学会

    ISSN： 0300-9173

  53. 東北メディカル・メガバンク事業―地域住民コホート調査における眼軸長検査

    布施昇男, 本間慶, 高井貴子, 荻島創一, 清元秀泰, 菅原準一, 鈴木洋一, 菊谷昌浩, 栗山進一, 寳澤篤, 八重樫伸生, 呉繁夫, 山本雅之

    日本眼科学会雑誌　120　(臨増)　200-200　2016/03

    Publisher: (公財)日本眼科学会

    ISSN： 0029-0203

  54. 随時尿Na/K比,随時尿からの推定食塩摂取量と血圧値の相関について―東北メディカル・メガバンク事業―

    寳澤篤, 清元秀泰, 中谷直樹, 中村智洋, 土屋菜歩, 成田暁, 小暮真奈, 菅原準一, 布施昇男, 菊谷昌浩, 鈴木洋一, 荻島創一, 高井貴子, 峯岸直子, 栗山進一, 辻一郎, 呉繁夫, 丹野高三, 佐々木亮平, 坂田清美

    Journal of Epidemiology (Web)　26　(Supplement 1)　123　2016/01/21

    ISSN： 1349-9092

  55. 東日本大震災後の宮城県におけるメタボリック症候群の規定要因:地域住民コホート調査

    中村智洋, 中谷直樹, 土屋菜歩, 成田暁, 丹野高三, 佐々木亮平, 坂田清美, 高井貴子, 荻島創一, 峯岸直子, 清元秀泰, 鈴木洋一, 菅原準一, 布施昇男, 菊谷昌浩, 栗山進一, 辻一郎, 呉繁夫, 寳澤篤

    Journal of Epidemiology (Web)　26　(Supplement 1)　124　2016/01/21

    ISSN： 1349-9092

  56. 随時尿Na/K比,随時尿からの推定食塩摂取量と血圧値の相関について―東北メディカル・メガバンク事業―

    寳澤篤, 清元秀泰, 中谷直樹, 中村智洋, 土屋菜歩, 成田暁, 小暮真奈, 菅原準一, 布施昇男, 菊谷昌浩, 鈴木洋一, 荻島創一, 高井貴子, 峯岸直子, 栗山進一, 辻一郎, 呉繁夫, 丹野高三, 佐々木亮平, 坂田清美

    Journal of Epidemiology (Web)　26　(Supplement 1)　123　2016/01/21

    ISSN： 0917-5040

  57. 東日本大震災後の宮城県におけるメタボリック症候群の規定要因:地域住民コホート調査

    中村智洋, 中谷直樹, 土屋菜歩, 成田暁, 丹野高三, 佐々木亮平, 坂田清美, 高井貴子, 荻島創一, 峯岸直子, 清元秀泰, 鈴木洋一, 菅原準一, 布施昇男, 菊谷昌浩, 栗山進一, 辻一郎, 呉繁夫, 寳澤篤

    Journal of Epidemiology (Web)　26　(Supplement 1)　124　2016/01/21

    ISSN： 0917-5040

  58. 患者団体等が主体的に運用する疾患横断的な患者レジストリのデータの収集・分析による難病患者のQOL向上及び政策支援のための基礎的知見の収集 2.J-RAREによるQOL調査の実施体制の研究

    荻島創一, 西村邦裕, 西村由希子, 岩崎匡寿, 江本駿

    患者団体等が主体的に運用する疾患横断的な患者レジストリのデータの収集・分析による難病患者のQOL向上及び政策支援のためのQOL評価基準の策定および基礎的知見の収集 平成27年度 総括・分担研究報告書(Web)　2016

  59. マタニティログ調査:ヘルスケアデータと多層オミックスデータによる妊娠関連疾患の予防・早期発見に向けたコホート調査

    原田祐希, 越智大介, 山内隆史, 山下理宇, 高井貴子, 荻島創一, 峯岸直子, 田邉修, 田邉修, 栗山進一, 栗山進一, 布施昇男, 八重樫伸生, 八重樫伸生, 山本雅之, 山本雅之, 檜山聡, 長崎正朗, 菅原準一, 菅原準一

    日本分子生物学会年会プログラム・要旨集(Web)　39th　ROMBUNNO.3LBA‐096 (WEB ONLY)　2016

  60. J‐RARE‐希少・難治性疾患患者のQOL向上と新薬開発の支援のために

    荻島創一, 荻島創一, 西村邦裕, 西村邦裕, 岩崎匡寿, 江本駿, 西村由希子

    日本難病医療ネットワーク学会機関誌　3　(1)　67-67　2015/11

    Publisher: 日本難病医療ネットワーク学会

    ISSN： 2188-1006

  61. LC‐MSによる大規模コホートメタボローム解析

    三枝大輔, 加藤恭丈, 小柴生造, 元池育子, 荻島創一, 本橋ほづみ, 菅原準一, 中谷純, 寳澤篤, 峯岸直子, 木下賢吾, 田邉修, 山本雅之

    日本農芸化学会大会講演要旨集(Web)　2015　4SY19-2 (WEB ONLY)　2015/03/05

    ISSN： 2186-7976

  62. 患者主体の患者レジストリJ‐RARE.netの取り組み

    西村邦裕, 西村邦裕, 西村邦裕, 西村由希子, 西村由希子, 西村由希子, 荻島創一, 荻島創一, 荻島創一

    日本難病医療ネットワーク学会機関誌　2　(1)　68-68　2014/11

    Publisher: 日本難病医療ネットワーク学会

    ISSN： 2188-1006

  63. 国内外バイオデータベースの現状と展望 バイオデータベースの統合およびトランスレーショナルな医学応用におけるデータベース構築技術

    荻島創一, 高井貴子

    計測と制御　53　(5)　413-418　2014/05/10

    DOI： 10.11499/sicejl.53.413 　

    ISSN： 0453-4662

  64. 患者支援団体等が主体的に難病研究支援を実施するための体制構築に向けた研究 2.患者レジストリの構築にむけての研究 患者主導の患者レジストリJ‐RARE.netとWE ARE HEREとの連携に関する研究

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    患者支援団体等が主体的に難病研究支援を実施するための体制構築に向けた研究 平成25年度総括・分担研究報告書　101-104　2014

  65. 患者支援団体等が主体的に難病研究支援を実施するための体制構築に向けた研究 2.患者レジストリの構築にむけての研究 患者レジストリの連携のあり方についての検討

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    患者支援団体等が主体的に難病研究支援を実施するための体制構築に向けた研究 平成25年度総括・分担研究報告書　97-99　2014

  66. 患者支援団体等が主体的に難病研究支援を実施するための体制構築に向けた研究 2.患者レジストリの構築にむけての研究 J‐RARE.netの法的検討・整備

    安念潤司, 森田瑞樹, 西村邦裕, 荻島創一

    患者支援団体等が主体的に難病研究支援を実施するための体制構築に向けた研究 平成25年度総括・分担研究報告書　71-72　2014

  67. 患者支援団体等が主体的に難病研究支援を実施するための体制構築に向けた研究 2.患者レジストリの構築にむけての研究 患者が主体となった患者レジストリJ‐RARE.netの機能

    西村邦裕, 荻島創一, 森田瑞樹

    患者支援団体等が主体的に難病研究支援を実施するための体制構築に向けた研究 平成25年度総括・分担研究報告書　65-70　2014

  68. 患者支援団体等が主体的に難病研究支援を実施するための体制構築に向けた研究 2.患者レジストリの構築にむけての研究 JRARE.netの今後の運営についての検討

    荻島創一, 西村邦裕, 森田瑞樹

    患者支援団体等が主体的に難病研究支援を実施するための体制構築に向けた研究 平成25年度総括・分担研究報告書　93-95　2014

  69. 患者支援団体等が主体的に難病研究支援を実施するための体制構築に向けた研究 2.患者レジストリの構築にむけての研究 患者が主体となった患者レジストリJ‐RARE.netの概要

    森田瑞樹, 荻島創一, 西村邦裕, 有馬隆博, 森崎隆幸, 鈴木登, 森まどか, 緒方勤, 平田恭信, 清水潤, 今井靖, 織田友理子, 猪井佳子, 永松勝利, 近藤健一, 谷口佳久

    患者支援団体等が主体的に難病研究支援を実施するための体制構築に向けた研究 平成25年度総括・分担研究報告書　57-63　2014

  70. セマンティック・ウェブを利用した遺伝子発現データの解析プラットホーム

    片山俊明, 菊池正隆, 荻島創一

    人工知能学会全国大会論文集(CD-ROM)　28th　ROMBUNNO.1G3-4　2014

    ISSN： 1347-9881

  71. セマンティック・ウェブを利用した遺伝子発現データの解析プラットホーム

    片山 俊明, 菊池 正隆, 荻島 創一

    人工知能学会全国大会論文集　2014　(0)　1G34-1G34　2014

    Publisher: 一般社団法人 人工知能学会

    DOI： 10.11517/pjsai.JSAI2014.0_1G34 　

    More details Close

    <p>医学生物学研究者が手元にもつ遺伝子発現データを解釈するために、外部知識を参照して、データドリブンに仮説を検討するためのインタラクティブなプラットホームはほとんどない。遺伝学、パスウェイ、疾患・医薬品、文献などの様々な知識の整備が進んでいるアルツハイマー病について、これらをセマンティック・ウェブ化したデータとして参照しながら仮説を検討するウェブアプリケーションを開発したので、これを報告する。</p>

  72. Integration of Biological Datebase and Datebase Techniques in Translational Research

    OGISHIMA Soichi, TAKAI Takako

    Journal of The Society of Instrument and Control Engineers　53　(5)　413-418　2014

    Publisher: The Society of Instrument and Control Engineers

    DOI： 10.11499/sicejl.53.413 　

    ISSN： 0453-4662

  73. 患者が主体となった希少疾患の患者レジストリ

    森田瑞樹, 荻島創一, 西村邦裕, 伊藤たてお

    臨床薬理　44　(Suppl.)　S211-S211　2013/11

    Publisher: (一社)日本臨床薬理学会

    ISSN： 0388-1601

    eISSN： 1882-8272

  74. 東北メディカル・メガバンク事業におけるゲノム・オミックス情報と医療情報等の統合

    荻島創一

    Proc Annu Conf Jpn Soc Bioinform　2013　75　2013/10/28

  75. 患者支援団体等が主体的に難病研究支援を実施するための体制構築に向けた研究 2.患者レジストリの構築にむけての研究 患者が主体となった患者レジストリに関する検討

    森田瑞樹, 西村邦裕, 荻島創一, 織田友理子, 猪井佳子, 永松勝利, 近藤健一, 百瀬理絵

    患者支援団体等が主体的に難病研究支援を実施するための体制構築に向けた研究 平成24年度総括・分担研究報告書　51-63　2013

  76. 患者支援団体等が主体的に難病研究支援を実施するための体制構築に向けた研究 2.患者レジストリの構築にむけての研究 国内の患者レジストリを対象としたアンケート調査

    森田瑞樹, 荻島創一, 西村邦裕, 花岡秀樹, 百瀬理絵

    患者支援団体等が主体的に難病研究支援を実施するための体制構築に向けた研究 平成24年度総括・分担研究報告書　29-37,39-44　2013

  77. 滑膜間葉幹細胞の軟骨分化を制御するMicroRNAの発現解析

    鈴木志郎, 関矢一郎, 辻邦和, 荻島創一, 大川淳, 宗田大

    日本整形外科学会雑誌　85　(8)　S1231-S1231　2011/08

    Publisher: (公社)日本整形外科学会

    ISSN： 0021-5325

  78. 乳癌の新規予後因子の同定

    吉村慶子, 竹内賢吾, 長崎光一, 荻島創一, 田中博, 牛嶋大, 松浦正明, 岩瀬拓士, 秋山太, 三木義男

    日本病理学会会誌　99　(1)　338-338　2010/03

    Publisher: (一社)日本病理学会

    ISSN： 0300-9181

  79. 新たな経路分析による低酸素の時間的な遺伝子発現解析(Temporal gene expression analysis of hypoxia using novel pathway analysis)

    森岡 勝樹, 石渡 龍輔, 荻島 創一, 大城 聰, 曽根 敏雄, 田中 博

    日本生化学会大会プログラム・講演要旨集　82回　3T6a-11　2009/09

    Publisher: (公社)日本生化学会

  80. アルツハイマー病のパスウェイデータベースAlzPathwayの構築とリスク候補遺伝子の抽出

    飯島里紗, 荻島創一, 菊地正隆, 宮下哲典, 桑野良三, 田中博

    日本分子生物学会年会講演要旨集　32nd　(Vol.3)　56　2009

  81. カタユウレイボヤの概日リズム

    松前ひろみ, 源利文, 花井修二, 大石勝隆, 安住薫, 石渡龍輔, 荻島創一, 田中博, 佐藤矩行, 石田直理雄

    時間生物学　14　(2)　69　2008/10/20

    ISSN： 1348-2025

  82. 死後脳を用いた晩期発症型アルツハイマー病の網羅的遺伝子発現解析

    宮下哲典, 斉藤佑子, 柿田明美, 荻島創一, 田中博, 村山繁雄, 高橋均, 井原康夫, 桑野良三

    Dement Jpn　22　(2)　176-176　2008/08

    Publisher: (一社)日本認知症学会

    ISSN： 1342-646X

  83. 細胞増殖・細胞分化・細胞死・幹細胞 味蕾発生においてHes1は味覚細胞分化を制御する(Hes1 regulates taste cell differentiation in the developing taste bud)

    太田 正人, 近藤 香, 荻島 創一, 金子 佳之, 田中 博, 大沢 匡毅, 森山 麻里子, 近藤 隆

    日本発生生物学会・日本細胞生物学会合同大会要旨集　40回・59回　57-57　2007/05

    Publisher: 日本発生生物学会・日本細胞生物学会

  84. カタユウレイボヤのcDNAマイクロアレイの数理解析による時計候補遺伝子の抽出

    松前ひろみ, 源利文, 花井修二, 大石勝隆, 安住薫, 石渡龍輔, 荻島創一, 田中博, 佐藤矩行, 石田直理雄

    生化学　1P-0927　2007

    ISSN： 0037-1017

  85. Evolution of transcription control and genetic regulation network: Hox signal transduction.

    田中博, 荻島創一

    生体の科学　57　(5)　378-379　2006/10

    Publisher: (公財)金原一郎記念医学医療振興財団

    DOI： 10.11477/mf.2425100271 　

    ISSN： 0370-9531

    eISSN： 1883-5503

  86. タンパク質間相互作用ネットワークのモジュラーな進化

    荻島創一, 鈴木泰博, 長谷武志, 中川草, 田中博

    日本分子生物学会年会講演要旨集　28th　173　2005/11/25

  87. 脊椎動物におけるHoxクラスタの上流配列のモチーフによる進化解析

    金子佳之, 荻島創一, 田中博

    日本分子生物学会年会講演要旨集　28th　172　2005/11/25

  88. ヒストンH3リジン4番のメチル化及び脱メチル化酵素の分子進化解析

    森岡勝樹, 石渡龍輔, 金子佳之, 荻島創一, 田中博

    日本分子生物学会年会講演要旨集　28th　172　2005/11/25

  89. 社会ネットワーク解析を用いた酵母タンパク質相互作用ネットワークの解析

    鈴木泰博, 荻島創一, 長谷武志, 中川草, 田中博, 藤原義久

    日本分子生物学会年会講演要旨集　28th　567　2005/11/25

  90. アポトーシス誘導因子Cytchrome c放出の数学モデリング

    石渡龍輔, 森岡勝樹, 荻島創一, 鈴木泰博, 田中博

    日本分子生物学会年会講演要旨集　28th　500　2005/11/25

  91. 臨床検査のための情報処理技術の進歩 5章 バイオインフォマティックス 2.マイクロアレイによる遺伝子発現情報の解析

    田中博, 荻島創一

    臨床検査　49　(12)　1511-1517　2005/11

    Publisher: (株)医学書院

    DOI： 10.11477/mf.1542100333 　

    ISSN： 0485-1420

    eISSN： 1882-1367

  92. 臨床検査のための情報処理技術の進歩 5章 バイオインフォマティックス 3.配列情報の解析法

    荻島創一, 松前ひろみ, 田中博

    臨床検査　49　(12)　1519-1523　2005/11

    Publisher: (株)医学書院

    DOI： 10.11477/mf.1542100334 　

    ISSN： 0485-1420

    eISSN： 1882-1367

  93. 臨床検査のための情報処理技術の進歩 4章 臨床検査情報の収集とデータマイニング 1.自動分類:clustering 1)クラスタ分析

    荻島創一, 田中博

    臨床検査　49　(12)　1421-1426　2005/11

    Publisher: (株)医学書院

    DOI： 10.11477/mf.1542100321 　

    ISSN： 0485-1420

    eISSN： 1882-1367

  94. The Specificity of Topology of the Protein-Protein Interactions in Yeast and Its Biological Characteristics

    SUZUKI Yasuhiro, NAKAGAWA So, HASE Takeshi, OGISHIMA Sohichi, TANAKA Hiroshi

    Journal of the Mass Spectrometry Society of Japan　53　(3)　137-141　2005/06/01

    Publisher: The Mass Spectrometry Society of Japan

    DOI： 10.5702/massspec.53.137 　

    ISSN： 1340-8097

    More details Close

    The specificity in topology of the protein network of yeast was investigated by analysis of the number of the protein-protein interactions. In order to examine the specificity of the protein network, the proteins was classified into three layers; the low, middle, and high with respect to the number of the protein-protein interactions. In the middle layer, proteins were mainly interconnected to each other, so proteins in the high layer were forced to be wired to those in the low layer. Hence, the results indicates that the proteins in the high layer connected between the low layer and the middle layer and integrated the network as a whole. Chracterization of each layer was carried out biologically. It seems that in the past, studies have been focussed on the proteins in the high layer (highly connected proteins), but in the future, studies on the proteins in the middle layer will be more siginificant topologically and biologically.

  95. 1P301 The evolutionary driving force of protein-protein interaction network

    Hase T., Ogishima S., Nakagawa S., Tanaka H.

    Seibutsu Butsuri　45　(0)　S107　2005

    Publisher: The Biophysical Society of Japan General Incorporated Association

    DOI： 10.2142/biophys.45.S107_1 　

    ISSN： 0582-4052

  96. 酵母におけるタンパク質複合体間の相互作用の性質

    中川草, 荻島創一, 長谷武志, 鈴木泰博, 田中博

    日本分子生物学会年会プログラム・講演要旨集　27th　804　2004/11/25

  97. タンパク間相互作用ネットワークの数理的諸相

    鈴木泰博, 長谷武, 荻島創一, 中川草, 田中博

    日本分子生物学会年会プログラム・講演要旨集　27th　793　2004/11/25

  98. 酵母のタンパク質間相互作用ネットワークの進化のモジュラー性とドメイン間相互作用ネットワークとの関連

    荻島創一, 中川草, 長谷武志, 鈴木泰博, 田中博

    日本分子生物学会年会プログラム・講演要旨集　27th　804　2004/11/25

  99. タンパク質間相互作用ネットワークの進化における自己結合するタンパク質の相互作用数の頻度分布と疎密構造の関係について

    長谷武志, 荻島創一, 鈴木泰博, 中川草, 田中博

    日本分子生物学会年会プログラム・講演要旨集　27th　1030　2004/11/25

  100. p53シグナル伝達系のモデリングおよびシミュレーション:Abstract Cell Modelでの試み

    荻島創一, 鈴木泰博, 田中博

    医療情報学連合大会論文集　24回　822-823　2004/11

    Publisher: (一社)日本医療情報学会

    ISSN： 1347-8508

  101. The cellular localized analysis of the yeast protein-protein interactions

    中川草, 鈴木泰博, 荻島創一, 長谷武志, 田中博

    情報処理学会シンポジウム論文集　2004　(12)　361-366　2004/10/26

    ISSN： 1344-0640

  102. 酵母におけるタンパク質複合体間相互作用の数理的解析

    中川草, 鈴木泰博, 荻島創一, 長谷武志, 田中博

    情報計算化学生物学会大会予稿集　2004　113-114　2004/07/28

  103. 蛋白質間相互作用ネットワークの進化における密なトポロジーの頑強性と自己結合する蛋白質の関係

    長谷武志, 荻島創一, 鈴木泰博, 中川草, 田中宏

    情報計算化学生物学会大会予稿集　2004　164-165　2004/07/28

  104. 出芽酵母のタンパク相互作用ネットワークの数理的特徴とその生物学的意味

    鈴木泰博, 荻島創一, 長谷武士, 中川草, 田中博

    BMSコンファレンス講演要旨集　31st　105　2004/07/01

  105. タンパク質間相互作用ネットワークのバイオインフォマティクスの手法を用いた解析

    荻島創一, 鈴木泰博, 中川草, 長谷武士, 田中博

    BMSコンファレンス講演要旨集　31st　106　2004/07/01

  106. 大量ゲノムデータの多重配列整列によるグリッドコンピューティングの有効性の検証

    五味悠一郎, 荻島創一, 田中博

    情報処理学会全国大会講演論文集　66th　(5)　5.77-5.80　2004/03/09

  107. How grid computing improves using the processing speed of large-scale sequence alignment?

    五味悠一郎, 荻島創一, 田中博

    情報処理学会研究報告　2004　(9(DPS-116))　19-23　2004/01/29

    ISSN： 0919-6072

  108. How grid computing improves using the processing speed of large-scale sequence alignment?

    GOMI Yuichiro, OGISHIMA Soichi, TANAKA Hiroshi

    IPSJ SIG Notes　116　(9)　19-23　2004/01/29

    Publisher: Information Processing Society of Japan (IPSJ)

    ISSN： 0919-6072

    More details Close

    In a Bio Informatics, large-scale sequence alignment is used for analysis in many cases. As for large-scale sequence alignment, much small-scale operation is repeated. Grid computing is for sparse combination type parallel processing. I think it is suitable for Bio Informatics. In order to measure processing speed, large-scale sequence alignment is performed by grid computing. As compared with the processing speed on Stand-alone PC, validity was verified

  109. 1P297 Relations between network topologies and degrees of self interaction proteins in evolution of yeast protein-protein interaction network

    Hase T, Ogishima S, Suzuki Y, Nakagawa So, Tanaka H

    Seibutsu Butsuri　44　(0)　S104　2004

    Publisher: The Biophysical Society of Japan General Incorporated Association

    DOI： 10.2142/biophys.44.S104_1 　

    ISSN： 0582-4052

  110. Perspectives on Disease Model in Genome-Based Medicine

    TANAKA Hiroshi, SUZUKI Yasuhiro, OGISHIMA Soichi

    Japan Journal of Medical Informatics　23　(5)　373-381　2003/12/01

    Publisher: Japan Association for Medical Informatics

    DOI： 10.14948/jami.23.373 　

    ISSN： 0289-8055

    More details Close

    <p> In this article, we describe the "genome-based medicine" as a new horizon of medicine driven by genome information and discuss crossover points genome-based medicine and medical informatics. And moreover, we focused on the disease model that is expected to be a new frontier in medical informatics. The disease model and simulation supports the "systems medicine" as system-level understanding of disease that is based on the comprehensive genomic data.</p>

  111. ゲノム医療からみた疾患モデルの展開

    田中博, 鈴木泰博, 荻島創一

    医療情報学　23　(5)　373-381　2003/12

    Publisher: (一社)日本医療情報学会

    ISSN： 0289-8055

  112. タンパク質間相互作用ネットワークのディグリーによる層別化と層の構造に関する研究

    長谷武志, 鈴木泰博, 荻島創一, 中川草, 田中博

    日本分子生物学会年会プログラム・講演要旨集　26th　1049　2003/11/25

  113. 形態形成に関わる多重遺伝子族の階層的進化過程の推定

    荻島創一, 田中博

    日本分子生物学会年会プログラム・講演要旨集　26th　820　2003/11/25

  114. マルチプルアライメントを利用したヒトとマウスにおけるHuntingtin内の繰り返し塩基配列AluとB1の比較

    肥田道彦, 荻島創一, 遠藤俊徳, 田中博

    日本分子生物学会年会プログラム・講演要旨集　26th　820　2003/11/25

  115. グリッドコンピューティングの有効性の検証―大量ゲノムデータの多重配列整列による

    五味悠一郎, 荻島創一, 大橋久美子, 田中博

    情報処理学会全国大会講演論文集　65th　(3)　3.259-3.260　2003/03/25

  116. Hierarchical Structure of Protein Protein Interaction Networks

    Hase T., Suzuki Y., Ogisima S., Tanaka H.

    Seibutsu Butsuri　43　(0)　S244　2003

    Publisher: The Biophysical Society of Japan General Incorporated Association

    DOI： 10.2142/biophys.43.S244_1 　

    ISSN： 0582-4052

  117. クロストークするWntシグナル伝達系の進化のドメイン構造に基づく準備的解析

    荻島創一, 田中博

    日本生物物理学会年会講演予稿集　40th　S139　2002/11

    ISSN： 0582-4052

  118. 大量ゲノムデータの多重配列整列によるグリッドコンピューティングの有効性の検証

    五味悠一郎, 荻島創一, 大橋久美子, 田中博

    医療情報学連合大会論文集　22回　254-255　2002/11

    Publisher: (一社)日本医療情報学会

    ISSN： 1347-8508

  119. MAPKシグナル伝達系の進化のドメイン構造に基づく準備的解析

    荻島創一, 田中博

    情報計算化学生物学会大会論文集　3rd　162-163　2002/09/18

  120. 大量ゲノムデータの多重配列整列によるグリッドコンピューティングの有効性の検証

    五味悠一郎, 荻島創一, 大橋久美子, 田中博

    情報計算化学生物学会大会論文集　3rd　322-323　2002/09/18

  121. HIV‐1の宿主内進化と薬剤治療との相関性解析

    REN F, 杉浦亙, 荻島創一, 田中博

    情報計算化学生物学会大会論文集　3rd　115-116　2002/09/18

  122. 2M1600 Preliminary analysis of evolution of crossregulation of the Wnt signalling pathway based on domain structure

    Ogishima S., Tanaka h.

    Seibutsu Butsuri　42　(2)　S139　2002

    Publisher: The Biophysical Society of Japan General Incorporated Association

    DOI： 10.2142/biophys.42.S139_2 　

    ISSN： 0582-4052

  123. 標準遺伝子系統樹の作成

    遠藤俊徳, 荻島創一, 田中博

    日本分子生物学会年会プログラム・講演要旨集　23rd　290　2000/11/25

  124. A Algorithm for Analysis of Within-host Virus Evolution.

    REN F, 荻島創一, 田中博

    医療情報学　20　(Supplement 2)　612-613　2000/11/23

    ISSN： 0289-8055

  125. A Algorithm for Analysis of Within-host Virus Evolution

    REN Fengrong, OGISHIMA Soichi, TANAKA Hiroshi

    医療情報学連合大会論文集　20回　612-613　2000/11

    Publisher: (一社)日本医療情報学会

    ISSN： 1347-8508

  126. 2モード進化モデルによるウイルス進化様式の解析

    REN F, 荻島創一, 田中博

    日本分子生物学会年会プログラム・講演要旨集　22nd　516　1999/11/22

  127. マルコフモデルによるウイルス進化様式の解析

    荻島創一, REN F, 田中博

    医療情報学連合大会論文集　19回　374-375　1999/11

    Publisher: (一社)日本医療情報学会

    ISSN： 1347-8508

  128. 最適多重分枝探索方式による分子進化系統樹の構築

    REN F, 荻島創一, 田中博

    医療情報学連合大会論文集　19回　372-373　1999/11

    Publisher: (一社)日本医療情報学会

    ISSN： 1347-8508

Show all ︎Show first 5

Books and Other Publications 29

  1. 実験医学増刊 Vol.43 No.20『オミクスデータを探す！使いこなす！公共データベース厳選53』:第2章 39. 統合データベースdbTMM―東北メディカル・メガバンク計画の15万人の健康調査情報・ゲノム情報の統合データベース

    水野聖士, 荻島創一

    羊土社　2025/12

    ISBN: 9784758104319

  2. 医学のあゆみ 2025年 Vol.293 No.11:ゲノム情報とデータシェアリングの意義

    荻島 創一

    医歯薬出版株式会社　2025/06

  3. がんゲノムペディア 77のキーワードで理解するゲノム医療とゲノム研究 :ゲノム共有プラットフォーム:GA4GH

    荻島創一

    羊土社　2024/02

    ISBN: 9784758121309

  4. 季刊誌「遺伝子医学」通巻47号・復刊22号（2024年1月発行） 特集「ゲノム医療におけるバイオバンクの役割とその利活用 」：わが国のバイオバンクの現状とバイオバンク・ネットワークによる利活用システムの構築

    荻島創一, 黒木陽子

    メディカル・ドゥ　2024/01

    ISBN: 9784909508270

  5. ヒト生体試料・データ取扱い実践ハンドブック 適切なサンプル・データ取得からバイオバンク利活用、法規制まで、必須知識と標準フローをこの1冊に凝縮:第５章 データの取扱い

    日本生物資源産業利用協議会, 荻島, 創一, 森崎, 隆幸, 西原, 広史, 宮地, 勇人

    羊土社　2023/08

    ISBN: 9784758122658

  6. 月刊PHARMSTAGE 2023年6月号:ゲノム情報・医療情報の統合による個別化ヘルスケアに向けたTR研究への活用

    荻島 創一

    技術情報協会　2023/06

  7. 革新的AI創薬 医療ビッグデータ、人工知能がもたらす創薬研究の未来像 :医療ビッグデータからのAI 創薬と個別化ヘルスケア

    荻島創一

    エヌ・ティー・エス　2022/07

    ISBN: 9784860437886

  8. 革新的AI創薬 : 医療ビッグデータ、人工知能がもたらす創薬研究の未来像:大規模コホートデータに基づく早期疾患予測モデル

    水野聖士, 荻島創一

    エヌ・ティー・エス　2022/07

    ISBN: 9784860437886

  9. 「癌と化学療法」第49巻2号（2022年2月号）特集：がんゲノム医療実現に向けたバイオバンク基盤構築の現状と課題：わが国のバイオバンク・ネットワークの構築

    荻島 創一

    癌と化学療法社　2022/02

  10. 遺伝学の百科事典 : 継承と多様性の源 = Encyclopedia of genetics : origin of inheritance and diversity :9-7 ヒト疾患のバイオバンクとデータベース

    日本遺伝学会

    丸善出版　2022/01

    ISBN: 9784621306604

  11. ジュリスト６月号：座談会：ゲノムデータの利活用と法規制のあり方

    米村滋人, 岡部尚文, 荻島創一, 宮田裕章, 山本龍彦

    有斐閣　2021/06/01

  12. 実験医学増刊 第39巻 第7号：日本人の疾患と健康のためのバイオバンクとデータベース活用法 試料と情報の的確な探し方と使い方

    後藤雄一, 村上善則, 高木利久, 荻島創一, 長神風二

    羊土社　2021/04/20

  13. 「Bio Clinica」第34巻 第9号 ：がんゲノミクスの解明と臨床応用：ゲノム情報の責任あるデータ共有

    荻島創一

    北隆館　2019/07/20

  14. 「Precision Medicine」2019年6月号 ：ゲノム創薬のためのバイオバンクの試料・情報の利活用

    荻島創一

    北隆館　2019/05/25

  15. 「Nextcom」Vol.37 2019 Spring ：ゲノム医療の実現に向けた研究開発におけるmissing piece

    荻島創一

    株式会社KDDI総合研究所　2019/03

  16. 「実験医学増刊」第36巻第15号 がんゲノム医療におけるプライバシー保護

    森田瑞樹, 荻島創一

    羊土社　2018/08

    ISBN: 9784758103732

  17. 〈続〉改正個人情報保護法でゲノム研究はどう変わるか？「実験医学」第36巻第13号

    山本奈津子, 川嶋実苗, 清水佳奈, 片山俊明, 荻島創一

    羊土社　2018/08

    ISBN: 9784758125109

  18. 「癌と化学療法」第45巻第4号 ゲノム医療とゲノム創薬におけるビッグデータの活用「ヒトゲノム情報と創薬」

    荻島 創一

    癌と化学療法社　2018/04

  19. 「小児内科」第51巻第1号 遺伝子診断・ゲノム医療ー大量の遺伝子データの分析, 疾患レジストリの応用

    荻島創一

    東京医学社　2018/01

  20. ゲノム医療研究への病院連携による診療情報の利活用「実験医学増刊」第35巻17号

    永家聖, 荻島創一

    羊土社　2017/11

  21. バイオバンク連携と統合データベース－東北メディカル・メガバンク計画の取り組みを中心に「実験医学増刊」第35巻17号

    荻島創一

    2017/11

  22. ヒト疾患のデータベースとバイオバンク : 情報をどう使い、どう活かすか?ゲノム医療をどう実現するか?/ 山本雅之, 荻島創一編集

    山本, 雅之, 荻島, 創一

    羊土社　2017/11

    ISBN: 9784758103664

  23. 「実験医学」第35巻第4号「改正個人情報保護法でゲノム研究はどう変わるか？－個人識別符号・要配慮情報としてのゲノムデータ」

    清水佳奈, 山本奈津子, 川嶋実苗, 片山俊明, 荻島創一

    羊土社　2017/03

  24. バイオ実験に絶対使える統計の基本Q&A

    秋山 徹, 井元 清哉, 河府和義, 藤渕航, 荻島創一ほか

    羊土社　2012/09

  25. 先制医療と創薬のための疾患システムバイオロジー―オミックス医療からシステム分子医学へ

    田中博, 高井貴子, 荻島創一, 茂櫛薫, 長谷武志

    培風館　2012/08

    ISBN: 9784563078126

  26. オープンソースで学ぶバイオインフォマティクス

    オープンバイオ研究会, 片山俊明, 荒川和晴, 二階堂愛, 荻島創一, 田中伸也, 中尾光輝

    東京電機大学出版局　2008/05

  27. マイクロアレイデータ統計解析プロトコール

    藤渕航, 堀本勝久, 荻島創一ほか

    羊土社　2008/05

  28. バイオ研究が10倍はかどるMacOS X活用マニュアル―セットアップから超簡単データ解析まで

    中村 保一, 荻島 創一, 礒合 敦

    羊土社　2003/12

    ISBN: 4897068746

  29. Solarisシステム管理

    中村保一, 礒合敦, 荻島創一

    秀和システム　2001/12

    ISBN: 4798002119

Show all Show first 5

Presentations 233

  1. ゲノムコホートの遺伝要因と環境要因の統合による疾患発症予測 Invited

    荻島創一

    日本遺伝学会第95回大会　2023/09/06

  2. 東北メディカル・メガバンク計画 Invited

    荻島創一

    一般社団法人ゲノムテクノロジー研究会 第10回分科会 「ゲノム関連データの利活用・ELSI」　2026/03/11

  3. ゲノム医療研究開発を推進する東北メディカル・メガバンク計画におけるRWD収集・利活用 Invited

    荻島創一

    JH 6NC-EHRsシンポジウム ― ナショナルセンターが切り拓くRWDの世界 ―　2026/03/02

  4. ゲノム医療の研究開発と生成AIによる医療情報の構造化と利活用 Invited

    荻島創一

    第97回京大データヘルス研究会　2026/01/16

  5. 個別化医療（未来型医療）への活用を可能とするLLMアプリケーションの構築 Invited

    荻島創一

    第45回医療情報学連合大会　2025/11/15

  6. 国際標準の動向 - GA4GH, HL7, ISO/TC215/SC1 Invited

    荻島創一

    ToMMo- NCCE合同シンポジウム　2025/11/08

  7. GA4GH tools for data sharing and management Invited

    Soichi Ogishima

    ICGC 22th Scientific Workshop and 9th ARGO Meeting　2025/09/30

  8. データ取扱い編 Invited

    荻島 創一

    バイオメディカルセミナー2025　2025/09/04

  9. Biobank Network Japan to accelerate progress towards genomic medicine Invited

    Soichi Ogishima

    The 1st Arab Biobank Collaborative Network Conference　2025/07/17

  10. 社会実装に向けて Invited

    荻島 創一

    東北大学 東北メディカル・メガバンク機構シンポジウム 「つながる、ひろがる バイオバンクが創る未来」　2025/07/14

  11. 大規模ゲノムコホート研究と医療情報の利活用 ー 東北メディカル・メガバンク計画の進捗 ー Invited

    荻島 創一

    第29回日本医療情報学会春季学術大会　2025/07/04

  12. Tohoku Medical Megabank project:diverse data collection in the population genome cohort toward personalized healtcare Invited

    Soichi Ogishima

    France-Japan Bilateral Seminar on HEALTH DATA　2025/06/19

  13. Leveraging Large-scale Genome Cohorts: AI-Driven Prediction Model for Precision Prevention Invited

    Soichi Ogishima

    iscbAI 2025　2025/05/31

  14. 大規模データを活用した妊娠高血圧症候群への挑戦 Invited

    荻島 創一

    第77回日本産科婦人科学会学術講演会　2025/05/25

  15. ゲノムのある診察室 ゲノム医療の研究開発から実装に向けて Invited

    荻島 創一

    Seagaia meeting 2025 in 宮崎　2025/05/17

  16. Emerging challenges of Biobank Network Japan: transformation biobank through AI technologies Invited

    Soichi Ogishima

    European Biobank Week 2025　2025/05/14

  17. 東北メディカル・メガバンク計画の進捗とDxによる未来型医療の実現へ Invited

    荻島創一

    ヘルスケアDxフォーラム　2025/02/27

  18. Tohoku Medical Megabank project Invited

    Soichi Ogishima

    Barbados meeting 2025　2025/01/08

  19. わが国のバイオバンク・ネットワークの状況と海外（欧米）のバイオバンクの状況 Invited

    荻島創一

    第2回文科省 次世代医療実現のための基盤技術に関する作業部会　2024/12/20

  20. 東北メディカル・メガバンク計画の進捗と大規模ゲノムコホートデータによる疾患発症予測 Invited

    荻島創一

    第32回日本胎盤学会学術集会/第42回日本絨毛性疾患研究会 特別講演 2　2024/10/19

  21. Biobank network in Japan to accelerate progress towards genomic medicine Invited

    Soichi Ogishima

    ⽇本⼈類遺伝学会第69回⼤会　2024/10/11

  22. ゲノム社会における医療・健診を通じた個別化予防・医療の実現へ Invited

    荻島創一

    Hospital Management Japan Summit 2024　2024/09/11

  23. 「バイオバンク・ネットワークの未来」 5-10 年後の未来と取り組むべき課題 Invited

    荻島創一

    第9回クリニカルバイオバンク学会シンポジウム　2024/08/03

  24. 統合データベース dbTMM: 第 2 段階調査期間のデータ統合に 向けて Invited

    水野 聖士, 永家 聖, 石渡 龍輔, 笠原 直子, 東北メディカル・メガバンク, TMMプロジェクト, 荻島 創一

    第9回クリニカルバイオバンク学会シンポジウム　2024/08/02

  25. Research and development platform toward data-enabled health system Invited

    Soichi Ogishima

    「デジタル技術による医療変革の最前線」 第6回 LINK-J・UCサンディエゴ ライフサイエンスシンポジウム　2024/05/29

  26. データの取扱い（第１回） Invited

    荻島創一

    バイオメディカルセミナー＜データ取扱い編＞　2024/05/23

  27. Biobank network in Japan to accelerate progress towards genomic medicine Invited

    Soichi Ogishima

    EUROPE BIOBANK WEEK 2024　2024/05/15

  28. データ基盤構築と医療・健康データ等の利活用 Invited

    荻島創一

    共創の場形成支援プログラム 共創分野・地域共創分野 第 1 回 領域ワークショップ「医療・健康データ等の利活用」　2024/05/07

  29. ゲノム医療のデータ基盤構築と疾患発症予測モデル Invited

    荻島創一

    生命情報科学若手の会 第12回セミナー　2024/04/26

  30. 国内外のバイオバンクの動向とわが国のバイオバンク・ネットワークの構築 Invited

    荻島創一

    バイオバンク信州・准講会共済セミナー バイオバンクの現在と未来　2024/02/22

  31. データxAIの未来型医療の情報基盤の実現へ向けて Invited

    荻島創一

    東北大学ヘルスティックカレッジ　2024/02/13

  32. Real-world data for disease prediction and the future of the metaverse

    2023/12/18

  33. ゲノム情報の利活用に向けた国際的な動向と展望 Invited

    荻島創一

    第13回 日本遺伝子診療学会 遺伝子診断・ 検査技術推進フォーラム 公開シンポジウム2023　2023/12/14

  34. 東北メディカル・メガバンク機構でのデータ統合の現状と今後 Invited

    荻島創一

    第５回TMM計画合同研究会　2023/11/28

  35. Establishment of the precise early prediction models of low-birth-weight for term and preterm birth groups based on genetic and environmental factors

    Satoshi Mizuno, Satoshi Nagaie, Gen Tamiya, Shinichi Kuriyama, Taku Obara, Mami Ishikuro, Hiroshi Tanaka, Kengo Kinoshita, Junichi Sugawara, Masayuki Yamamoto, Nobuo Yaegashi, Soichi Ogishima

    情報計算化学生物学会2023年大会　2023/10/25

  36. Development of Biobank Network for Research and Development of Precision Medicine in Japan

    Soichi Ogishima

    情報計算化学生物学会2023年大会　2023/10/25

  37. Biobank Information Platform for R&D of Genomic Medicine in Japan Invited

    Soichi Ogishima

    Human Genetics Asia 2023　2023/10/13

  38. GA4GH real-world implementations Invited

    Soichi Ogishima

    GA4GH 11th Plenary meeting　2023/09/20

  39. GA4GH Rare Disease Connect panel Invited

    Soichi Ogishima

    GA4GH 11th Plenary meeting　2023/09/20

  40. バイオバンク･ネットワークによるゲノム研究プラットフォーム利活用システムの構築 Invited

    荻島創一

    第12回生命医薬情報学連合大会　2023/09/09

  41. ゲノム医療の研究開発基盤としてのバイオバンク・ネットワークの 構築とゲノム社会の情報基盤の実現に向けて Invited

    荻島創一

    第20回日本婦人科がん会議　2023/09/03

  42. バイオバンクにおけるデータ取扱い Invited

    荻島創一

    「ヒト生体試料・データ取扱い 実践ハンドブック」 出版記念シンポジウム　2023/08/03

  43. コホート・バイオバンクの構築と個別化予防・医療の実現へ Invited

    荻島創一

    GLOCOM六本木会議オンライン（ウェビナー）　2023/06/27

  44. 東北メディカル・メガバンク計画の進捗とゲノム研究プラットフォーム利活用システムの構築 Invited

    荻島 創一

    臨床リアルワールドデータとゲノムデータを利用した未来型医療　2023/05/22

  45. Development of biobank network in Japan Invited

    Soichi Ogishima

    2023/04/18

  46. ゲノム医療におけるデータ利活用基盤 Invited

    荻島 創一

    第8回研究倫理を語る会　2023/03/04

  47. 東北メディカル・メガバンク計画の進捗とバイオバンク・ネットワークの構築 Invited

    荻島 創一

    AI ホスピタル・マクロシグナルダイナミクス研究開発センター特別講演会　2023/02/28

  48. ゲノム・臨床データの国際的なハーモナイゼーションの現状と将来 Invited

    荻島 創一

    ゲノムテクノロジー研究会、ESLI関連セミナー 「ゲノムデータの利用を巡る動向と社会」　2023/02/21

  49. 東北メディカル・メガバンク計画の取り組みと進捗 Invited

    荻島 創一

    【REBINDデータバンク事業セミナー】 ～新興・再興感染症データバンク事業のスタートアップ～　2023/02/17

  50. 希少疾患に欠かせない国際協力とその取り組み Invited

    荻島 創一

    RDD2023東北大学　2023/02/05

  51. 大規模なゲノム・医療情報による創薬標的探索と個別化ヘルスケアへの展開 Invited

    荻島 創一

    創薬薬理フォーラム第72回談話会　2023/01/20

  52. International standardization and digitization of patient informed content Invited

    2022/12/15

  53. AMEDゲノム研究プラットホーム利活用システム バイオバンク･ネットワークの構築と利活用促進の取り組み Invited

    荻島 創一

    第2回我が国のバイオバンクの海外からの利用に関する検討委員会　2022/10/14

  54. Promoting Cancer Research through Biobank Networking Invited

    2022/09/29

  55. Progress of Tohoku Medical Megabank project and integration of large-scale data Invited

    Tsukuba Global Science Week　2022/09/26

  56. 東北メディカル・メガバンク計画の進展とコホート・バイオバンクの連携 Invited

    荻島 創一

    第11回生命医薬情報学連合大会　2022/09/14

  57. バイオバンク・ネットワークの構築とヒトデータの利活用促進 Invited

    荻島 創一

    日本プロテオーム学会2022年大会「データベース・データ解析」　2022/08/09

  58. バイオバンク・ネットワークの構築と利活用促進の取り組み Invited

    荻島 創一

    第7回クリニカルバイオバンク学会シンポジウム　2022/07/08

  59. Biobank network for promotion of utilization of biobank toward realization of genomic medicine in Japan Invited

    2022/07/07

  60. わが国のバイオバンク・ネットワークの構築と試料・情報の利活用促進 Invited

    荻島 創一

    ToMMo-LinkJ共催イベント「大規模なバイオバンクの連携と統合的なデータ利活用」　2022/06/30

  61. 本シンポジウムを通じて Invited

    荻島 創一

    第4回メディカルAI学会学術集会 AMED合同企画「メディカルAIと『すべての人に健康と福祉を』～学会で考えるSDGs」　2022/06/11

  62. ゲノム医療実現のためのバイオバンク・ネットワーク構築と利活用促進 Invited

    荻島 創一

    バイオ計測技術コンソーシアム（JMAC）定例会　2022/05/27

  63. ゲノム情報の二次利用の実現に向けて Invited

    荻島 創一

    Seagaia meeting 2022　2022/05/21

  64. 大規模コホートとバイオバンクを用いたミトコンドリア･腸内細菌病態評価技術の確立 ミトコンドリア先制医療統合臨床データベースの構築

    荻島 創一

    AMEDムーンショット技術交流会　2022/03/29

  65. 超高次元の前向きコホートデータの健康状態空間による構造化

    荻島 創一

    第26回オープンバイオ研究会　2022/03/12

  66. 東北メディカル・メガバンク計画における統合データベースの構築と利活用 Invited

    荻島 創一

    第56回糖尿病学の進歩 世話人特別企画「糖尿病のPrecision medicineを目指して」　2022/02/26

  67. ヒトデータの共有と利活用 - 国際共同研究・企業研究に向けて Invited

    荻島 創一

    2021年度第4回ヒトゲノム研究倫理を考える会 - ゲノム研究と社会をつなぐELSIを考える –　2022/01/31

  68. Challenges and prospects for sharing genome and medical information in the era of genomic medicine Invited

    Soichi Ogishima

    The 5th International Cancer Research Symposium　2022/01/15

  69. わが国のゲノム医療におけるデータ利活用の現状と今後の展望 Invited

    荻島 創一

    RDUF（Research Data Utilization Forum: 研究データ利活用協議会）公開シンポジウム「社会科学と医療分野における研究データ利活用の実際」　2021/11/22

  70. ゲノム医療の実施体制への展望とISO/TC215/SC1, HL7, GA4GHの標準化活動

    荻島 創一

    第41回医療情報学連合大会 ワークショップ7 「クリニカルシークエンスデータの標準化動向」　2021/11/21

  71. Challenges in Utilizing Biobanks and Efforts to Solve Them in Japan

    Mizuki Morita, Yusukue Inoue, Makoto Iwane, Kamikawa, K, Mayumi Kurata, Arihiro Kohara, Yoshihiro Sumita, Tomoyo Takeuchi, Hiroshi Nishihara, Akiko Hinomura, Takayuki Morisaki, Seiya Imoto, Koichi Matsuda, Makoto Hirata, Hiroshi Yokota, Kichiya Suzuki, Kinuko Ohneda, Fuji Nagami, Satoshi Nagaie, Yoshihiro Miyamoto, Kotaro Hattori, Tsutomu Tomita, Eisei Noiri, Ryo Matsumura, Reiko Miyahara, Koji Kitajima, Kouya Shiraishi, Shin Kawano, Hiroki Nakae, Masayuki Yoshida, Hiroo Terui-Kohbata, Manabu Muto, Shigemi Matumoto, Johji Inazawa, Toshihiro Tanaka, Akira Takemoto, Hiroyuki Nishiyama, Toshihisa Takagi, Yoshinori Murakami, Yuichi Goto, Soichi Ogishima

    EUROPE BIOBANK WEEK 2021

  72. 東北メディカル・メガバンク計画の進捗とバイオバンク・ネットワークの活動 Invited

    荻島創一

    JST共創の場 つくばデジタルバイオ国際拠点 第七回講演会「本拠点が有するデータベースとその構造」　2021/10/20

  73. わが国のバイオバンクのネットワーク化とヒト試料・情報の利活用促進

    荻島創一

    BioJapan 2021　2021/10/14

  74. Activities for Developing and Implementing Framework for Responsible Sharing of Clinical Data & Genomic Data International-presentation Invited

    Soichi Ogishima

    GA4GH 9th Plenary Meeting　2021/09/29

  75. ゲノム社会の未来に向けたデザイン Invited

    荻島創一

    日本バイオインフォマティクス学会・日本オミックス学会 合同シンポジウム　2021/09/28

  76. クリニカルシーケンスの標準化活動の状況 Invited

    荻島創一

    第78回HL7セミナー　2021/09/27

  77. Changing landscape of Medicine - Genomic technology and patient involvement Invited

    Soichi Ogishima

    DFG Heinz Maier-Leibnitz-Prize online conference „Patient involvement and data protection in medicine and medical research and related Ethical, Legal and Social Issues (ELSI)”　2021/09/17

  78. コホート・バイオバンクのデータによる未来型医療への取組 Invited

    荻島創一

    東北大学知の創出センター×アクサ協働プログラム キックオフシンポジウム「デジタル社会における保険イノベーション」　2021/09/14

  79. 横断検索から窓口機能へ〜検索だけでは使われない？ Invited

    荻島創一

    第1回バイオバンク オープンフォーラム「ユーザー拡大と窓口業務について考える」　2021/08/20

  80. 臨床データとゲノムデータのデータサイエンス基盤構築と研究開発 Invited

    荻島 創一

    慶應義塾大学医学部 新次元開拓セミナー　2021/07/15

  81. Update of Biobank Network for Promotion of Utilization of Biobank toward Realization of Genomic Medicine in Japan

    Soichi Ogishima, Yoshinori Murakami, Yuichi Goto, Takayuki Morisaki, Seiya Imoto, Koichi Matsuda, Makoto Hirata, Hiroshi Yokota, Kichiya Suzuki, Fuji Nagami, Satoshi Nagaie, Yoshihiro Miyamoto, Kotaro Hattori, Tsutomu Tomita, Eisei Noiri, Ryo Matsumura, Reiko Miyahara, Koji Kitajima, Shin Kawano, Mizuki Morita, Hiroshi Nishihara, Hiroki Nakae, Masayuki Yoshida, Hiroo Kohbata, Manabu Muto, Shigemi Matumoto, Johji Inazawa, Toshihiro Tanaka, Akira Takemoto, Hiroyuki Nishiyama, Tomoyo Takeuchi, Toshihisa Takagi

    ISBER 2021 Annual Meeting　2021/05/12

  82. オープンな科学の営み Invited

    荻島創一

    第25回オープンバイオ研究会　2021/03/13

  83. バイオバンク横断検索システムによるバイオバンク・ネットワーク構築 Invited

    荻島創一

    日本医療研究開発機構(AMED)ゲノム・データ基盤事業部ゲノム医療基盤研究開発課 令和2年度成果報告会　2021/02/24

  84. バイオバンク横断検索システムについて Invited

    荻島創一

    第2回バイオバンク利活用相談会　2021/02/09

  85. ゲノム医療実現のためのバイオバンク・ネットワーク構築 Invited

    荻島創一

    JBICバイオ関連基盤技術研究会　2020/12/18

  86. バイオバンク横断検索システムによるバイオバンク・ネットワーク

    荻島創一

    第1回バイオバンク利活用相談会　2020/12/04

  87. ゲノム医療分野におけるICD-11の活用 Invited

    荻島創一

    第40回医療情報学連合大会　2020/11/20

  88. ゲノム医療の動向とISO/TC215/SC１の標準化活動

    荻島創一

    第40回医療情報学連合大会　2020/11/19

  89. Biobank Network for Promotion of Research & Development of Genomic Medicine in Japan

    Soichi Ogishima

    Europe Biobank Week 2020　2020/11/18

  90. ヒト集団のデータから見るオミックスの原理の理解に向けて

    荻島創一

    情報計算化学生物学会（CBI学会）2020年大会　2020/10/28

  91. Biobank network for promotion of utilization of biobank toward realization of genomic medicine in Japan

    Ogishima S, Murakami Y, Goto Y, Morisaki T, Imoto S, Matsuda K, Hirata M, Yokota H, Suzuki K, Nagami F, Nagaie S, Miyamoto Y, Tomita T, Noiri H, Matsumura R, Miyahara R, Kitajima K, Kawano S, Morita M, Nishihara H, Nakae H, Yoshida M, Kohbata H, Muto M, Matsumoto S, Inazawa J, Tanaka T, Takemoto A, Nishiyama H, Takeuchi T, Takagi T

    ISBER 2020 Virtual Symposium　2020/10/22

  92. Minimum Common Data Elements of Biospecimen Quality Information for Biobank Network in Japan

    Morita M, Hattori K, Matsumura R, Kitajima K, Miyahara R, Noiri E, Hirata M, Imoto S, Kawano S, Nagaie S, Takagi T, Goto Y, Murakami Y, Ogishima S

    ISBER 2020 Virtual Symposium　2020/10/22

  93. Minimum Common Data Elements of Cancer-specific Clinical Information and Consent Information for the Biobank Network in Japan

    Nagaie S, Hirata M, Hattori K, Matsumura R, Kitajima K, Miyahara R, Noiri E, Imoto S, Kawano S, Morita M, Takagi T, Goto Y, Murakami Y, Ogishima S

    ISBER 2020 Virtual Symposium　2020/10/22

  94. GEM Japan activities Developing Framework for Responsible Sharing of Genomic and Clinical Data

    Soichi Ogishima

    GA4TGH 8th Plenary Meeting　2020/10/01

  95. GA4GH DURI Work Stream in GEM Japan 2020; localizing the Data Use Ontology and Machine-Readable Consent in the local research community

    Yamasaki C, Nagaie S, Kawashima M, Hata C, Kawashima S, Kodama Y, Morita M, Yamamoto N, Nagano A, Katsui K, Takai T, Ogishima S

    2020/09/29

  96. ゲノム医療の研究開発のためのゲノムデータや診療データの共有と利活用 Invited

    荻島創一

    京都がん研究会　2020/09/11

  97. Society 5.0社会に向けたバイオデータ活用 東北メディカル・メガバンク計画によるゲノムコホート情報の活用と展望 Invited

    荻島創一

    第9回アメリエフオープンセミナー　2020/09/10

  98. バイオバンクを利用したゲノム医療研究開発 -バイオバンク・ネットワークのゲノム情報、臨床情報の利活用-

    荻島創一

    ゲノム研究プラットフォーム利活用システム 第2回バイオバンク・ネットワークウェビナー　2020/09/01

  99. バイオバンクを利用したゲノム医療研究開発ーバイオバンク・ネットワークのゲノム情報、臨床情報の利活用ー

    荻島創一

    第9回生命医薬情報学連合大会　2020/09/01

  100. バイオバンク横断検索システムによるバイオバンク・ネットワークの試料・情報の利用 ―GEMJ全ゲノム解析等の大規模バイオバンクを用いたGWAS解析に必要な情報の検索等―

    荻島創一

    第1回バイオバンク・ネットワークウェビナー「大規模なゲノム解析情報の集積とバイオバンクの利用」　2020/07/27

  101. わが国におけるゲノム医療の研究開発動向 Invited

    荻島創一

    国際シンポジウム「医療情報の利活用に係る国内外の法制度」　2020/03/15

  102. バイオバンク・ネットワークにおける共通データ項目の策定 Invited

    荻島創一

    第24回オープンバイオ研究会　2020/03/14

  103. The Tohoku Medical Megabank project and biobank network in Japan International-presentation Invited

    Soichi Ogishima

    Human Ecosystem Population Cohort　2020/03/09

  104. Research & Development of Biobank Network in Japan International-presentation

    Soichi Ogishima

    GEM Japan Workshop 2020 Sendai　2020/02/27

  105. The responsible sharing of genomic and phenotypic data for research and development of genomic medicine Invited

    2020/02/13

  106. Launch and management of Biobank cross-search system International-presentation Invited

    Soichi Ogishima

    Japan & Denmark STI Symposium　2020/02/12

  107. ゲノム情報・診療情報のデータ共有と研究への利活用の国際的な動向 Invited

    荻島創一

    2019年度第5回ヒトゲノム研究倫理を考える会　2020/02/02

  108. Development of data platform to find immanent molecular-types and deep phenotypes International-presentation Invited

    Soichi Ogishima

    AROB 25th 2020, ISBC5　2020/01/22

  109. バイオバンク横断検索システムの紹介 Invited

    2019/12/17

  110. ヒト疾患における異常な臨床表現型を記述する Human Phenotype Ontology Invited

    2019/12/17

  111. ゲノム医療研究におけるデータシェアリング Invited

    2019/12/13

  112. 国内外のゲノム医療の研究開発におけるゲノム・オミクス情報の収集と利活用 Invited

    2019/11/24

  113. ヒト疾患における異常な臨床表現型を記述するHuman Phenotype Ontology Invited

    2019/11/23

  114. Development of genomic medicine and drug discovery using medical database in genome cohort study Invited

    Soichi Ogishima

    2019/11/12

  115. Importance of database for clinical genetics and genomic medicine Invited

    Soichi Ogishima

    2019/11/08

  116. 未来型医療の研究開発のためのゲノムデータおよび臨床データの統合データベース基盤整備 Invited

    2019/10/29

  117. Development of phenotyping algorithms for hypertensive disorders of pregnancy (HDP) for precise stratification toward drug development

    Mizuno S, Wagata M, Nagaie S, Tamiya G, Kuriyama S, Tanaka H, Yaegashi N, Sugawara J, Ogishima S

    2019/10/22

  118. Development of Integrated Database “dbTMM” for stratification of cohort participant toward drug development

    Nagaie S, Mizuno S, Ishiwata R, Kasahara N, Chiba A, Matsuhashi H, Konno Y, ToMMo dbTMM Project, Ogishima S

    2019/10/22

  119. Collaborative Genomic & Phenotypic Data Standards and Data Use International-presentation Invited

    Soichi Ogishima

    GA4GH 7th Plenary Meeting　2019/10/22

  120. Biobank network and data sharing in Japan International-presentation Invited

    Soichi Ogishima

    AMED - Ministry of Health of Lithuania Workshop　2019/09/23

  121. オミックス医学研究の動向と展望 Invited

    荻島創一

    日本バイオインフォマティクス学会2019年年会 第8回生命医薬情報学連合大会IIBMP2019 日本オミックス医学会 シンポジウム　2019/09/11

  122. 細胞集団の大規模な遺伝子発現データの低次元射影のクラスタリングの比較検討

    小嶋崇史, 永家聖, 石渡龍輔, 水野聖士, 田中博, 荻島創一

    日本バイオインフォマティクス学会2019年年会 第8回生命医薬情報学連合大会IIBMP2019　2019/09/09

  123. ゲノム医療に向けたゲノムデータの標準化について Invited

    荻島創一

    第8回生命医薬情報学連合大会 日本バイオフォマティクス学会・日本オミックス医学会 合同シンポジウム　2019/09/10

  124. Clinical & Phenotypic Data Capturing and Data Use International-presentation Invited

    Soichi Ogishima

    GEM Japan Workshop　2019/08/23

  125. Data Integration of Genetic and Environmental Factors for Revealing Complexity of Common Disease International-presentation Invited

    Soichi Ogishima

    The International Symposium on BioComplexity 2019 Summer Symposium　2019/08/09

  126. ゲノムデータおよび表現型データの共有によるゲノム医療の研究開発の加速と診療へのシフト

    荻島創一

    AWS・イルミナ共催シンポジウム：クラウドが加速するゲノミクス　2019/07/31

  127. Session II：Population Genomics. Development of integrated database and biobank networks for data sharing in Japan International-presentation

    Soichi Ogishima

    The 5th ToMMo-NHRI Conference　2019/07/09

  128. がんゲノム医療のビッグデータ解析に向けて

    Soichi Ogishima

    2019/06/14

  129. Introduction to Biobank Networks in Japan. International-presentation

    Soichi Ogishima

    2019/06/10

  130. ゲノムデータと臨床データの利活用によるゲノム医療研究開発の促進

    Soichi Ogishima

    Seagaia meeting 2019　2019/06/01

  131. Research and development of biobank network and operational support for promotion of utilization of biobank toward realization of genomic medecine International-presentation Invited

    Ogishima S , Murakami Y, Goto Y, Hirata M, Imoto S, Matsuda K, Miyamoto Y, Morisaki T, Morita M, Nagami F, Nakae H, Nishihara H, Suzuki K, Yokota H, Takagi T

    ISBER 2019 Annual Meeting & Exhibits, Shanhai　2019/05/07

  132. Biobanking in Asia and Oceania International-presentation

    Soichi Ogishima

    ISBER 2019 Annual Meeting & Exhibits, Shanhai　2019/05/09

  133. Biobank Network International-presentation

    Soichi Ogishima

    AMED-GA4GH GEM Japan Workshop 2019 Sendai Symposium　2019/03/18

  134. Integrated database "db TMM" for genomic prospective cohort study in Tohoku Medical Megabank Toward personalized healthcare International-presentation Invited

    Soichi Ogishima

    2019/02/22

  135. データ管理と共有・クラウドの利活用 Invited

    荻島創一

    第2回バイオメディカルデータサイエンティスト養成集中講座　2019/02/20

  136. Standardization of minimum common data set of biospecimen and data across biobanks in Japan International-presentation

    Morita M, Hirata M, Ikeda S, Tomida S, Imoto S, Ogishima S

    ISBER 2nd Biospecimen Research Symposium　2019/02/05

  137. Genome, Food Preference, Environmental Factors, and Prognostic Medication International Symposium on BioComplexity 4 International-presentation

    Soichi Ogishima

    AROB 24th 2019　2019/01/23

  138. Research and Development of Biobank Network toward Realization of Genomic Medicine in Japan International-presentation

    Ogishima S, Murakami Y, Goto Y, Hirata M, Imoto S, Matsuda K, Miyamoto Y, Morisaki T, Morita M, Nagami F, Nakae H, Nishihara H, Suzuki K, Yokoto H, Takagi T

    ISBER 2019 Annual Meeting & Exhibits, Shanhai　2019/01/23

  139. Enabling genomic & phenotypic data sharing for the benefit of human health International-presentation Invited

    Soichi Ogishima

    BioHackathon 2018　2018/12/09

  140. データベースはこれからの医療をこう変えてゆくか>「データシェアリングの国外の動向と東北メディカル・メガバンク統合データベースdbTMMの取り組み」 Invited

    荻島創一

    日本人類遺伝学会第63回大会　2018/10/12

  141. <AMEDスポンサードセッション・バイオバンクの利活用促進と倫理的・法的・社会的課題（ELSI）>「ゲノム医療実現推進のためのバイオバンク利活用促進に向けたバイオバンク・ネットワーク構 築と運用支援に関する研究開発」 Invited

    荻島創一

    情報計算化学生物学会2018年大会　2018/10/10

  142. About principles of OMICs “What is the principle of "life" and biodiversity?”

    Soichi Ogishima

    2018/10/09

  143. バイオバンクのネットワーク化で何が変わるのか？「バイオバンクのネットワーク化と横断検索」 Invited

    荻島創一

    第4回クリニカルバイオバンク学会シンポジウム　2018/07/08

  144. 東北メディカル・メガバンク計画における統合データベースdbTMMの構築の現状と今後ー診療情報に基づくフェノタイピングによる追跡調査へ向けてー Invited

    荻島創一

    いわて東北メディカル・メガバンク機構講演会　2018/06/25

  145. Conduct the QOL survey using J-RARE - NANBYO Patients’ Data Platform led by patients International-presentation

    Y Nishimura, S Emoto, K Nishimura, M Iwasaki, J-RARE patient organization groups, G Yoshizawa, S Ogishima

    ECRD 2018　2018/05/12

  146. バイオバンク利用に向けた横断検索プロトタイプシステム Invited

    荻島創一

    臨薬協バイオバンク交流会　2018/04/12

  147. 個人情報保護法改正とゲノムデータの取扱い、国内外の動向 Invited

    荻島創一

    バイオメディカルデータサイエンティスト養成集中講座　2018/02/21

  148. バイオバンク横断検索のプロトタイプ開発 -バイオバンクの保管試料･情報の「見える化」とワンストップでの横断検索 Invited

    荻島創一

    第3回バイオバンク連絡会　2018/02/10

  149. 希少疾患領域の国際連携の現状 Invited

    荻島創一

    Rare Disease Day 2018　2018/02/01

  150. 東北メディカル・メガバンク計画の進捗と統合データベースdbTMMの構築 -診療情報に基づくフェノタイピングによる追跡調査へ向けて- Invited

    荻島創一

    第80回徳島大学先端酵素学研究所糖尿病臨床・研究開発センター講演会　2017/12/19

  151. 前向きゲノムコホート研究へのNGSの貢献 Invited

    Soichi Ogishima

    2017/12/05

  152. 診療情報から「病態」を取り出そう！Phenotyingのススメ

    Soichi Ogishima

    2017/11/21

  153. ゲノム医療研究におけるPhenotyping

    Soichi Ogishima

    2017/11/21

  154. A novel method of phenotype similarities of rare-disease patients using gene-pathway-phenotype relationships. International-presentation

    Soichi Ogishima, Satoshi Nagaie

    American Society of Human Genetics 2017　2017/10/20

  155. バイオインフォマティクスとその医学応用

    Soichi Ogishima

    2017/10/04

  156. Development of Tohoku Medical Megabank Integrated Database ”dbTMM” and Knowledge-Base "kbTMM" International-presentation

    Soichi Ogishima

    KI-Tohoku joint conference for international collaborations in Biobanking and Biochemistry　2017/10/03

  157. オミックスを原理的なところから考える

    Soichi Ogishima

    2017/10/03

  158. 東北メディカル・メガバンク 共同研究および分譲申請について

    Soichi Ogishima

    2017/09/29

  159. 東北メディカル・メガバンクでの情報分譲の実用的な紹介と利用者との交流

    Soichi Ogishima

    2017/09/29

  160. 疾患概念を構造化した妊娠高血圧腎症オントロジー（PEO）の開発

    水野聖士, 西郡秀和, 和形麻衣子, 斎藤昌利, 菅原準一, 田中博, 八重樫伸生, 荻島創一

    第38回日本妊娠高血圧学会　2017/09/22

  161. Minimum common data set in cross-biobank search across biobanks in Japan. International-presentation

    Morita M, Hirata M, Ikeda S, Tomida S, Imoto S, Ogishima S

    Global Biobank Week 2017　2017/09/13

  162. Network-based inference of signature genes of Alzheimer’s disease progression. International-presentation

    Soichi Ogishima

    AROB Workshop on Artificial Life and Robotics in Busan　2017/09/08

  163. 診療情報の利活用によるフェノタイピングとHuman Phenotype Ontology（HPO） Invited

    荻島創一

    第10回 Pharma AI Forum (PHAIFO)　2017/08/31

  164. ビッグデータ・AI・ゲノム・創薬 セッション －AIや各種統計解析手法を用いたビッグデータ解析によるゲノム創薬の最前線 Invited

    荻島創一

    第15回日本臨床腫瘍学会学術集会　2017/07/28

  165. 東北メディカル･メガバンク計画の進捗状況と日本のバイオバンクのこれから

    荻島創一

    第3回クリニカルバイオバンク研究会シンポジウム　2017/07/09

  166. プライバシ保護ゲノム解析のための秘密計算フィッシャー正確検定の実装評価

    長谷川 聡, 濱田 浩気, 三澤 計治, 千田 浩司, 荻島 創一, 長﨑 正朗

    DICOMO2017 シンポジウム　2017/06/28

  167. ビッグデータ等を活用した新たな臨床研究デザインについて－日米の動向について Invited

    2017/05/29

  168. ゲノム医療支援の人工知能の研究開発へ向けて – ゲノム医療とは？

    Soichi Ogishima

    2017/05/26

  169. NGSの医療応用:ゲノム医療を目指す現場から

    Soichi Ogishima

    2017/05/23

  170. ゲノム医療研究の現場で必要な10のこと

    Soichi Ogishima

    2017/05/23

  171. NGSとNGS現場の会

    荻島創一

    NGS現場の会 第五回研究会　2017/05/23

  172. NGS×コホート・バイオバンク

    山下理宇, 荻島創一

    NGS現場の会 第五回研究会　2017/05/22

  173. Integrated Database and Knowledge Base in Tohoku Medical Megabank Project International-presentation

    Soichi Ogishima

    UK-CKD-ToMMo joint conference 2017 in Sendai　2017/05/12

  174. Biocomplexity in biomolecular network - Gene environment interactions and network perspectives. International-presentation

    Nagaie S, Ogishima S, Tanaka H

    AROB 22nd, 2017　2017/01/20

  175. Integrated Database and Knowledge Base for Genomic Prospective Cohort Study: Lessons Learned from the Tohoku Medical Megabank Project. International-presentation

    Soichi Ogishima

    Pacific Symposium on Biocomputing 2017　2017/01/03

  176. J-RARE - 希少・難治性疾患患者のQOL向上と研究開発支援のための患者情報プラットホーム Invited

    荻島創一

    第28回日本生命倫理学会年次大会　2016/12/03

  177. 東北メディカル・メガバンク計画の進捗状況およびバイオリソースと医療情報の連携 Invited

    荻島創一

    第36回医療情報学連合大会　2016/11/24

  178. 国内外のゲノム医療の動向と東北メディカル・メガバンク計画の取り組み Invited

    荻島創一

    第36回医療情報学連合大会　2016/11/22

  179. Phenotyping and Localization of the Human Phenotype Ontology International-presentation Invited

    Soichi Ogishima

    4th International Conference on Rare and Undiagnosed Diseases　2016/11/17

  180. Regulation in Japan and Security in Tohoku Medical Megabank Project International-presentation

    Soichi Ogishima

    The 4th Plenary meeting of the Global Alliance for Genomics and Health (GA4GH)　2016/10/16

  181. あなたのゲノム、あなたの医療 Invited

    荻島創一

    第5回生命医薬情報学連合大会　2016/10/01

  182. ゲノム医療の実現に向けたバイオインフォマティックスのロードマップ Invited

    荻島創一

    第5回生命医薬情報学連合大会　2016/09/30

  183. 疾患研究における臨床情報や患者情報の利活用

    荻島創一

    厚生労働省 ヒト幹細胞情報化推進事業 第33回SKIPセミナー　2016/08/22

  184. 未来型の個別化予防の実現に向けて - 統合・知識データベースの構築 - Invited

    荻島創一

    関西経済連合会 ビッグデータ利活用促進に向けた講演会　2016/06/22

  185. Integrated database “dbTMM”: integration of large-scale data of genomic prospective cohort study in Tohoku Medical Megabank projecttoward personalized healthcare

    Soichi Ogishima

    BioHackathon 2016 Symposium　2016/06/12

  186. 東北メディカル・メガバンク計画の取り組み - 大規模ゲノムコホートの統合データベース Invited

    Soichi Ogishima

    2016/02/16

  187. Deep phenotyping toward precision medicine. International-presentation

    Soichi Ogishima

    International Symposium on BioComplexity 1　2016/01/20

  188. Integrated database "db TMM" for genomic prospective cohort study in Tohoku Medical Megabank Toward personalized healthcare International-presentation

    Ogishima S, Tanaka H

    International Symposium on BioComplexity 1　2016/01/20

  189. Trends in data sharing of genomic and phenotype data toward personalized prevention and medicine International-presentation

    Ogishima S, Tanaka H

    International Symposium on Artificial Life and Robotics 2015　2015/01/21

  190. Integrated database and triplestore in prospective cohort study at the Tohoku Medical Megabank Project International-presentation

    Soichi Ogishima

    BioHackathon 2014 Symposium　2014/11/09

  191. 東北メディカル・メガバンク事業におけるゲノム・オミックス情報と医療情報等の統合

    Soichi Ogishima

    2013/10/31

  192. 細胞の分化・誘導に関わる発現ポテンシャル解析

    Soichi Ogishima

    2013/09/04

  193. Data integration in Tohoku Medical Megabank project International-presentation

    Soichi Ogishima

    BioHackathon 2013 Symposium　2013/06/23

  194. オミックスデータの統合による疾患システム生物学研究の現状

    Soichi Ogishima

    2011/12/12

  195. アルツハイマー病のシグネチャ遺伝子の遺伝子調節ネットワークの疾患アトラクターとしての推定

    Soichi Ogishima

    2011/12/12

  196. Network -based inference of signature genes of Alzheimer’s disease progression International-presentation

    Ogishima S, Kikuchi M, Miyashita T, Kuwano R, Tanaka H

    International Conference on Systems Biology 2011　2011/08/28

  197. 先制医療のためのバイオマーカーのシステム生物学的アプローチによる探索

    Soichi Ogishima

    2011/06/27

  198. Inference of Disease Attractors and Gene Regulatory Network of Disease Progression

    Ogishima S, Tanaka H

    RIKEN CDB Symposium 2011　2011/03/14

  199. Inference of the master regulators in the gene regulatory network of Alzheimer’s disease progression International-presentation

    Ogishima S, Tanaka H

    Asia Pacific Bioinformatics Conference 2011　2011/01/11

  200. ioCichlid: centraldogma-based 3D visualization system of time-course microarray data on a hierarchical biological network International-presentation

    Ogishima S, Ishiwata RR, Morioka MS, Tanaka H

    International Conference on Bioinformatics 2010　2010/09/26

  201. A global structure of functional modules in the protein interaction network International-presentation

    Kikuchi M, Ogishima S, Masuda N, Niimura Y, Tanaka H

    International Conference on Bioinformatics (InCoB) 2010　2010/09/26

  202. 比較トランスクリプトーム解析によるタンパク質間相互作用ネットワークの機能モジュールの大域的構造および進化プロセス

    Soichi Ogishima

    2010/08/03

  203. A global structure of functional modules in the protein interaction network

    Kikuchi M, Ogishima S, Masuda N, Niimura Y, Tanaka H

    Computational Biology Research Center Workshop 2010　2010/07/28

  204. Preliminary analysis on systems evolution of the putative Hox transcriptional network

    Ogishima S, Tanaka H

    OIST Winter Course "Evolution of Complex Systems" 2009　2009/12/08

  205. 薬剤・環境応答の遺伝子発現トレンド解析と疾患数理モデルの構築へ向けて

    Soichi Ogishima

    CompView GCOE Symposium　2009/12/04

  206. Temporal gene expression analysis of hypoxia in human muscle cell International-presentation

    Morioka MS, Ishiwata RR, Ogishima S, Oshiro S, Tanaka H

    International Conference on Systems Biology　2009/10/01

  207. Systems evolutionary analysis on the putative Hox transcriptional networks International-presentation

    Ogishima S, Tanaka H

    European Society for Evolutionary Biology 2009　2009/08/24

  208. 生命システムの進化解析と動態解析: 生命システムのグランドデザインの解明を目指して

    Soichi Ogishima

    2009/02/20

  209. System identification and analysis of the putative Hox transcriptional network International-presentation

    Soichi Ogishima

    2nd Meeting of Euro EvoDevo　2008/07/29

  210. Systems biology and evolution: toward understanding of the grand design of biological systems International-presentation

    Soichi Ogishima

    2008/07/14

  211. Systems biology and evolution: toward understanding of the grand design of biological systems International-presentation

    Soichi Ogishima

    2008/05/27

  212. システム進化生物学: 生命システムのグランドデザインの解明を目指して

    Soichi Ogishima

    2008/02/20

  213. システム生物学の現状とシステム進化生物学への展開

    Soichi Ogishima

    2007/10/15

  214. マイクロアレイ解析とシステム生物学的アプローチ

    Soichi Ogishima

    2007/03/18

  215. Systems evolutionary biology: modular evolution of yeast protein interaction network International-presentation

    Ogishima S, Suzuki Y, Hase T, Nakagawa S, Tanaka H

    7thInternational Conference on Systems Biology　2006/10/08

  216. システム進化生物学: 基本コンセプトと新しい試み

    Soichi Ogishima

    2006/09/18

  217. Missing link in the evolution of Hox clusters International-presentation

    Ogishima S, Tanaka H

    1st and Founding Meeting of Euro EvoDevo　2006/08/19

  218. Missing link in the evolution of Hox clusters.

    Soichi Ogishima

    2006/04/28

  219. Evolutionary dynamics of membrane ecdysone receptor genes in insect

    Ogishima S, Tanaka H

    RIKEN CDB Symposium 2006　2006/04/10

  220. Modularity in the evol ution of yeast protein interaction network International-presentation

    Ogishima S, Suzuki Y, Hase T, Nakagawa S, Tanaka H

    6th International Conference on Systems Biology　2005/10/19

  221. Modularity in evolution of protein interaction network and features of developmental protein interaction network

    Ogishima S, Kaneko Y, Hase T, Nakagawa S, Suzuki Y, Tanaka H

    RIKEN CDB Symposium 2005　2005/04/11

  222. タンパク質間相互作用ネットワークのバイオインフォマティクスの手法を用いた解析

    Soichi Ogishima

    2004/07/06

  223. Mac OS Xを大量データ処理に活用しよう

    Soichi Ogishima

    2003/12/10

  224. Systems evolutionary analysis of Hox multigenes family International-presentation

    Ogishima S, Tanaka H

    5th International Conference on Systems Biology　2003/11/05

  225. Modeling of p53 signalling network by using Abstract Cell Model International-presentation

    Suzuki, Y. Ogishima S, Tanaka H

    5th International Conference on Systems Biology　2003/11/05

  226. Modeling the p53 signalling network by using Abstract Cell Model International-presentation

    Suzuki Y, Ogishima S, Tanaka H

    European Conference on Computational Biology 2003　2003/09/27

  227. 創薬・医療とシステムバイオロジー

    Soichi Ogishima

    GT Forum&BioIT World 2003　2003/09/19

  228. Systems evolutionary biology: how life evolves as an unified system? International-presentation

    Soichi Ogishima

    7th Evolutionary Biology Meeting　2003/06/25

  229. Mac OS Xのススメ

    荻島創一

    生物学者による情報処理技術研究会 第2回研究集会　2003/01/28

  230. ETools: Tools to handle biological sequences and alignments for evolutionary studies International-presentation

    Endo T, Ogishima S, Tanaka H

    Genome informatics　2002/12/16

  231. Preliminary analysis of evolution of MARK intracellular signal transduction network International-presentation

    Ogishima S, Tanaka H

    3rd International Conference on Systems Biology　2002/12/11

  232. バイオ研究者にとっての最強ツール Apple/Genentech BLAST and Clustering as High Performance Computing

    Soichi Ogishima

    Macworld 2002 Tokyo　2002/03/23

  233. A Sequential-linking method for analysis of within-host viral evolution International-presentation Invited

    Ren F, Ogishim, S, Tanaka H

    Genome Informatics　2000/12/18

Show all Show first 5

Research Projects 19

  1. 多因子疾患の環境曝露の発症機序への影響の深層学習によるシステム的解明

    荻島 創一

    Offer Organization: 日本学術振興会

    System: 科学研究費助成事業 基盤研究(B)

    Category: 基盤研究(B)

    Institution: 東北大学

    2021/04/01 - 2024/03/31

  2. ゲノム医療実現推進のためのバイオバンク利活用促進に向けたバイオバンク・ネットワーク構築 と運用支援に関する研究開発 Competitive

    荻島創一

    Offer Organization: 日本医療研究開発機構

    System: ゲノム医療実現推進プラットフォーム事業

    2018/10 - 2023/03

  3. The establishment of the trust among stakeholders and patients for sharing the medical and genomic records by centralized and decentralized storage methods

    Offer Organization: Japan Society for the Promotion of Science

    System: Grants-in-Aid for Scientific Research Grant-in-Aid for Scientific Research (B)

    Category: Grant-in-Aid for Scientific Research (B)

    Institution: Chiba University

    2019/07/17 - 2022/03/31

  4. 日本人のゲノム・健康・診療情報と公共知識ベースのセマンティック統合システムの開発

    片山 俊明, 荻島 創一, 川島 秀一, 藤原 豊史

    Offer Organization: 日本学術振興会

    System: 科学研究費助成事業 基盤研究(C)

    Category: 基盤研究(C)

    Institution: 大学共同利用機関法人情報・システム研究機構(機構本部施設等)

    2018/04/01 - 2021/03/31

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    本研究では、日本人のゲノム情報を活用するための技術基盤構築および健康情報や診断情報のセマンティクスに基づいたデータ統合を目指している。このため日本人ゲノム情報および健康情報・診断情報をもつdbTMMを開発している東北大学東北メディカル・メガバンク機構および、セマンティック・ウェブ技術によるデータベース統合のための技術開発を進めているライフサイエンス統合データベースセンターが協力し研究開発を進めている。今年度は、継続してゲノムグラフのヒトゲノムおよび日本人ゲノムへの適用を検討したが、現状ではまだリファレンスとなる大規模なゲノムグラフの構築を完了するには技術的な課題が多く、利用可能な個人ゲノムの長鎖シーケンスも限られるため、引き続き技術動向をフォローしていく必要がある。ゲノムグラフとその座標系に対するアノテーション等の知識のマッピングについては、RDFを用いた微生物のゲノムグラフに対するアノテーショントランスファーの実験を行うなどの準備を進めた。一方で、健康情報・診療情報については、dbTMMの調査項目と既存のオントロジーのマッピングを行った。これにより、血液学検査・生化学的検査・尿検査・検査データ項目についてはClinical Measurement Ontology (CMO)を用いることで、また飲酒・喫煙・メンタルヘルスなどについては表現系と環境曝露を扱うPhenX toolkitのプロジェクトで開発しているオントロジーを用いることで記述できることが分かった。既存のオントロジーでdbTMMの調査項目を同じ粒度ですべてカバーすることはできないが、国内外のコホートによる調査項目で共通に扱える部分については標準化を進められる目処が立ってきたといえる。

  5. Bioinformatics analysis of disease attractors and gene regulatory networks of Alzheimer's disease

    Ogishima Soichi

    Offer Organization: Japan Society for the Promotion of Science

    System: Grants-in-Aid for Scientific Research Grant-in-Aid for Scientific Research (C)

    Category: Grant-in-Aid for Scientific Research (C)

    Institution: Tohoku University

    2016/04/01 - 2019/03/31

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    We inferred attractors of disease state of Alzheimer’s disease (AD), conducted trajectory analysis of those attractors, and analyzed gene regulatory network forming those attractors. We then developed the algorithm to detect complex gene-environment (GxE) interactions causing AD. Using gene expression data of AD samples, we inferred probabilistic potentials of AD samples in the state space of AD gene expression data. We also inferred the corresponding gene regulatory network to AD attractors on probabilistic potentials.

  6. Examination of issues for utilizing genome analysis research information in medicine

    Nagami Fuji

    Offer Organization: Japan Society for the Promotion of Science

    System: Grants-in-Aid for Scientific Research Grant-in-Aid for Scientific Research (C)

    Category: Grant-in-Aid for Scientific Research (C)

    Institution: Tohoku University

    2015/04/01 - 2019/03/31

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    Based on the survey, we clarified that in Japanese major cohort studies and biobanks, the return of genomic results to the research participants are rarely implemented, and then consider the framework for providing the results of genomic analysis in research to medical institutions. In Japan, a protocol to connect to a medical institution after the return to the participant her/himself is conducted only on a trial basis. Even in advanced approaches carried out in Shizuoka, Shimane, and Okinawa, there are one-way flow of information from medical institutions to the research project. A survey of US efforts has also highlighted the importance of defining the entire framework after securing clinical equivalent quality such as quality control.

  7. アルツハイマー病の疾患アトラクター・遺伝子調節ネットワーク解析による生命情報解析 Competitive

    荻島創一

    Offer Organization: 文部科学省

    System: 文部科学研究費補助金 基盤研究(C）

    2016/04 - 2019/03

  8. Development of both the data exchange format of hierarchical omics data and the multi-axis and polyphenic ontology

    NAKAYA Jun

    Offer Organization: Japan Society for the Promotion of Science

    System: Grants-in-Aid for Scientific Research Grant-in-Aid for Scientific Research (A)

    Category: Grant-in-Aid for Scientific Research (A)

    Institution: Tohoku University

    2014/04/01 - 2017/03/31

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    In this study, we formulated data exchange format of omics medical data including hierarchical omics data and clinical data. We developed novel data exchange format of multidimensional, multifactorial, multi layered data of hierarchical omics data (from genome to phenome), clinical data, and environmental data, which are separately described by data elements and semantics relationships. We are working on international standardization of our data exchange formats.

  9. ゲノムデータの持つ個人識別性に関する研究

    Offer Organization: 厚生労働省

    System: 厚生労働行政推進調査事業費補助金（厚生労働科学特別研究事業）

    Institution: 東北大学 東北メディカル・メガバンク機構

    2016/04 - 2017/03

  10. Analysis of cancer attractors on gene expression potentials by gene-environment (GxE) interactions

    OGISHIMA Soichi

    Offer Organization: Japan Society for the Promotion of Science

    System: Grants-in-Aid for Scientific Research Grant-in-Aid for Scientific Research (C)

    Category: Grant-in-Aid for Scientific Research (C)

    Institution: Tohoku University

    2013/04/01 - 2016/03/31

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    Toward systems-level understanding of transition of cancer attractors, we clarified cancer attractors and their transitions on gene expression potential during epithelial-mesenchymal transition in cancer metastasis by analyzing time-course gene expression data. We conducted PCA on gene expression data to reduce their dimension, and inferred gene regulatory network regulating cancer attractors. As for cancer metastasis, we evaluated effects on gene expression potential by gene-environment (GxE) interactions, and clarified stability of cancer cells on gene expression potentials and trajectory of their attractors under certain condition of gene and environment.

  11. 患者団体等が主体的に運用する疾患横断的な患者レジストリのデータの収集・分析による難病患者のQOL向上及び政策支援のためのQOL評価基準の策定および基礎的知見の収集 Competitive

    荻島創一

    Offer Organization: 厚労省

    System: 厚生労働科学研究費補助金 難治性疾患等政策研究事業

    2015/04 - 2016/03

  12. Elucidation of the role of Sirt6 in the chondrocyte metabolism

    ASOU Yoshinori

    Offer Organization: Japan Society for the Promotion of Science

    System: Grants-in-Aid for Scientific Research Grant-in-Aid for Scientific Research (C)

    Category: Grant-in-Aid for Scientific Research (C)

    Institution: Tokyo Medical and Dental University

    2012/04/01 - 2015/03/31

    More details Close

    The aim of this study was to investigate the Sirt6 signal pathway in cartilage metabolism.Sirt6 was expressed in primary chondrocytes and the chondrocyte-like cell line ATDC5. At birth, the length of the tibia and femur was shorter in Sirt6-/-. In the growth plate (GP), PCNA expression was reduced in Sirt6-/- mice. The number of TUNEL positive cells was comparable between Sirt6-/- and littermates. Two weeks after birth, growth retardation was apparent in Sirt6-/-, with reduced proliferating zone and hypertrophic zone in the growth plate, delayed ossification of secondary ossification center and decreased primary spongiosa. mRNA and protein expression of Col2a1, Col10a1 and Ihh in the growth plate was reduced in Sirt6-/- primary chondrocytes. Functional analysis revealed Sirt6 positively regulates chondrocyte differentiation via the Atf4 -Ihh axis.

  13. 患者団体等が主体的に運用する疾患横断的な患者レジストリのデータの収集・分析による難病患者のQOL向上及び政策支援のための基礎的知見の収集 Competitive

    荻島創一

    Offer Organization: 厚労省

    System: 厚生労働科学研究費補助金 難治性疾患等政策研究事業

    2014/04 - 2015/03

  14. 遺伝子-遺伝子発現-環境相互作用によるポテンシャルにおける癌アトラクターの解析 Competitive

    荻島創一

    Offer Organization: 文部科学省

    System: 文部科学研究費補助金 基盤研究(C）

    2013/04 - 2015/03

  15. 発生・分化システムの時系列遺伝子発現の安定状態（アトラクター）の同定と遷移解析 Competitive

    荻島創一

    Offer Organization: 文部科学省

    System: 文部科学研究費補助金 基盤研究(Ｂ）

    2010/04 - 2012/03

  16. Identification and transition analysis of stable states (attractors) of time-course gene expression of developmental and differentiation system

    OGISHIMA Soichi

    Offer Organization: Japan Society for the Promotion of Science

    System: Grants-in-Aid for Scientific Research Grant-in-Aid for Young Scientists (B)

    Category: Grant-in-Aid for Young Scientists (B)

    2010 - 2012

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    We established a novel method to understand developmental and differentiation process as transition of stable states (attractors) of time-course gene expression. We defined a phase space by principal component analysis on gene expression data during iPS cells differentiations. We then calculated an appearance frequency of each cellular state based on gene expression data, and calculated an occurrence probability of each cellular state as expression potential field showing stability of each cellular state.

  17. 初期胚発生のHoxを中心とした転写調節ネットワークのシステム進化解析 Competitive

    荻島創一

    Offer Organization: 文部科学省

    System: 文部科学研究費補助金 基盤研究(Ｂ）

    2008/04 - 2010/03

  18. 選択的スプライシングを受ける遺伝子の探索とシス・エレメントの体系的解析

    黒柳 秀人, 荻島 創一

    Offer Organization: 日本学術振興会

    System: 科学研究費助成事業 特定領域研究

    Category: 特定領域研究

    Institution: 東京医科歯科大学

    2008 - 2009

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    mRNA前駆体(pre-mRNA)の選択的スプライシングは、ひとつの遺伝子から多様なタンパク質を造り出す機構で、多細胞生物の比較的少ない遺伝子からタンパク質発現の時間的・空間的多様性を生み出すための最も重要な機構のひとつである。生体内の各細胞における各遺伝子の選択的スプライシングは、トランスの制御因子とそれらが認識する転写産物上の配列または構造情報(シス・エレメント)により制御されるが、その分子機構の全容解明が今後の重要な課題である。 本研究課題では、スプライシング制御に関わる塩基配列の解明を目指す。そのために、選択的スプライシング制御因子の変異体線虫を用い、i)野生型と変異体でそれぞれ発現しているmRNAのアイソフォームを大量・高速に比較することで、制御因子の標的となっている可能性がある遺伝子を網羅的に探索するための実験的・情報学的方法論の開発し、実験的に検証を行って標的遺伝子を同定すること、ii)同定した標的遺伝子の塩基配列を基に、選択的スプライシングを制御するシス・エレメントの配列を生物情報学的に予測し、予測されたエレメントの必要性や制御されるエクソンとの相対的位置関係、他のシス・エレメントとの協調性について実験的に検証すること、を行い、生体における選択的スプライシングの時間的空間的制御に必要な配列・構造情報の規則性を明らかにすることを目的としている。 今年度は、主に、次世代シーケンサ-を用いたトランスクリプトーム解析を野生型およびスプライシング変異体の線虫に対して行うことを目指して、異なる株でRNA調製の条件を揃えるための飼育方法の検討や、抽出した全RNAから次世代シーケンサー解析にかけるためのDNA断片ライブラリーの作製方法の検討を行った。そして、その方法に従って野生型株N2、代表者らが同定したFox-1ファミリースプライシング制御因子ASD-1とFOX-1の二重変異体、およびasd-2変異体について、cDNAライブラリーを作製した。 現在、このcDNAライブラリーを利用して、次世代シーケンサーを用いたトランスクリプトーム解析を行っている。

  19. Systems evolutionary analysis on Hox transcription networks in the early embryonic development

    OGISHIMA Soichi

    Offer Organization: Japan Society for the Promotion of Science

    System: Grants-in-Aid for Scientific Research Grant-in-Aid for Young Scientists (B)

    Category: Grant-in-Aid for Young Scientists (B)

    Institution: Tokyo Medical and Dental University

    2008 - 2009

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    We identified Hox transcriptional networks which have key roles in regulating the patterning of the antero-posterior axis at phylotypic stage in a metazoan embryo. We conducted bioinformatics methods including promoter analysis on Hox regulating genes in each evolutionary stage and anatomical structure which were retrieved from public gene expression database. We then compared Hox transcriptional networks among mouse, sea squirt, and fruit fly.

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Teaching Experience 27

  1. 未来型医療創造卓越大学院プログラム バックキャスト研修「データ統合によるゲノム医療」　東北大学

  2. 東北大学 データ管理学I 東北メディカル・メガバンク機構における統合データベース　東北大学

  3. データサイエンス人材育成プログラム 「疾患データ科学特論」ゲノム社会における個別化ヘルスケアの 動向と展望　東京科学大学

  4. 東北大学 データ管理学I 東北メディカル・メガバンク機構における統合データベース　東北大学

  5. 東北広域次世代がんプロ養成プラン講義 次世代腫瘍予防学特論 11.ビックデータ・データベース　東北大学

  6. 「医学総論（医学AI特論科目～ゲノム医療特論）」 ゲノム医療の情報基盤構築とAIの利活用　北海道大学

  7. 東北大学 データ管理学I 東北メディカル・メガバンク機構における統合データベース　東北大学

  8. 未来がん医療プロフェッショナル養成プラン「がんのシステム生物学」がんのパスウェイ解析とシステム理解　東京医科歯科大学

  9. 東北大学医学系研究科医学AIコース 特別レクチャー「医療AIを支える未来型医療のデータ基盤」　東北大学

  10. 未来がん医療プロフェッショナル養成プラン「がんのシステム生物学」がんのパスウェイ解析　東京医科歯科大学

  11. データ関連人材育成プログラム「バイオバンク/ゲノムコホート特論」　東京医科歯科大学

  12. 次世代 がん治療推進専門家養成プラン「がんのシステム生物学論」がんのパスウェイ解析　東京医科歯科大学

  13. 次世代がん治療推進専門家養成プラン「がんのシステム生物学概論」（がんのシステム生物学）　東京医科歯科大学

  14. 「疾患オミックス情報学特論」（がんのシステム生物学）　東京医科歯科大学

  15. 創薬研究のためのデータベース講習会　産業技術総合研究所

  16. 「バイオインフォマティクス」（生命情報学）　東京医科歯科大学

  17. “Computational Systems Biology” (システム生物学)　東京医科歯科大学

  18. コンピュータプログラミング実習（生命情報学実習）　東京医科歯科大学

  19. 生命情報学特論・生命システム情報学特論」（生命情報学・システム生物学）　東京医科歯科大学

  20. 基礎情報医歯学（生命情報学）　東京医科歯科大学

  21. バイオ情報資源の高準化と共有化　国立遺伝学研究所

  22. バイオ医療オミックス情報学 人材養成プログラム(生命情報学・システム生物学）　文部科学省

  23. バイオインフォマティクス速習コース　国立研究開発法人科学技術振興機構

  24. KNOBで利用できる代表的な解析ソフトウェア　神奈川県科学技術アカデミー

  25. 遺伝子発現プロファイル解析　経済産業省

  26. プロテオーム解析/パスウェイ解析　経済産業省

  27. 医学情報処理演習Ⅱ　東京医科歯科大学

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