Details of the Researcher

PHOTO

Fuji Nagami
Section
Tohoku Medical Megabank Organization
Job title
Professor
Degree

  • 博士（医学）（東北大学）

  • 修士（学術）（東京大学）

e-Rad No.
80501957
Profile

2012- Present Job
2008- Tohoku University Global COE for Brain Science
2006-2007 Japan Science and Technology Agency
2002-2006 National Museum of Emerging Science and Innovation

Professional Memberships 7

  • 日本疫学会

    2020/10 -

  • 日本人類遺伝学会

    2020/09 -

  • 科学技術社会論学会

  • 日本神経科学学会

  • Society for Neuroscience

  • 日本化学会

  • 日本分子生物学会

︎Show all ︎Show first 5

Research Interests 12

  • medical genomics

  • 包括脳ネットワーク

  • 科学の制作

  • 科学技術社会論

  • 科学広報

  • サイエンスコミュニケーション

  • Public Relations

  • Public Awareness

  • Science Communication

  • Public Relations

  • Public Awareness

  • Science Communication

Research Areas 1

  • Life sciences / Healthcare management, medical sociology /

Papers 72

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

    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　2025/01/17

    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.

  2. Basic Science and Pathogenesis. International-journal

    Makiko Taira, Nobuo Fuse, Andrew J Saykin, Fuji Nagami, Kengo Kinoshita, Masayuki Yamamoto

    Alzheimer's & dementia : the journal of the Alzheimer's Association　20 Suppl 1　e093405　2024/12

    DOI： 10.1002/alz.093405 　

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    BACKGROUND: Dementia is age-related with a significant genetic contribution, yet genome-wide association studies have not fully accounted for heritability. This discrepancy may in part be due to reliance on SNPs and small indels. Whole-genome sequencing (WGS) data in the Japanese population may reveal population-specific susceptibility loci for dementia. Retinal imaging with optical coherence tomography (OCT) is noninvasive, reproducible, and can detect thinning associated with progressive neurodegeneration. Association of population-specific genetic susceptibility loci with retinal thinning and cognitive decline may reveal novel aspects of dementia risk and pathophysiology. METHOD: Among participants with WGS data from the Tohoku Medical Megabank Organization (ToMMo) Ophthalmology Study ("ToMMo Eye Study"), individuals with adequate quality data on retinal nerve fiber layer and ganglion cell layer thickness from spectral-domain optical coherence tomography (SD-OCT) scans were selected. Since retinal thinning also occurs in glaucoma, we performed a GWAS using age, sex, and 10 principal components as covariates using SAGE1.2 to obtain a set of genes responsible for glaucoma and confirm that the genotyping was successful. We then attempted to identify susceptibility loci for cognitive decline by using (1) the Mini-Mental State Examination, Japanese version (MMSE-J), (2) the Montreal Cognitive Assessment, Japanese version (MoCA-J), and (3) the Mini-COG© (a simple screening for early detection of dementia, Japanese version) scores as associated factors, respectively. Furthermore, these validation results were also compared with those obtained from GWAS using imputation data performed on custom arrays (Japonica ArrayTM, v2 or NEO) for Japanese. RESULT: 84 significant (p < 5.0E-8) genome-wide susceptibility loci (hg38) of RNFL were detected on 14K WGS-based study (the top hit locus: Chr14, SIX6 gene, P = 4.50E-46). There were many genetic loci that have already been reported to be associated with glaucoma susceptibility, including the above locus. Among the results of GWAS for cognitive decline combining the three cognitive scores after normalization to z-scores, several loci have shown significant susceptibility in both of RNFL and cognitive rating scale. Some loci suggested more than a high or moderate effect of altering protein efficacy. CONCLUSION: We present an initial WGS-based genetic study of retinal thickness and cognitive decline in the Japanese population.

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

    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　2024/09/17

    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.

  4. Association of olfactory and cognitive function test scores with hippocampal and amygdalar grey matter volume: a cross-sectional study

    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)　2024/08/19

    Publisher: Springer Science and Business Media LLC

    DOI： 10.1038/s41598-024-69726-4 　

    eISSN： 2045-2322

  5. 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.

    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.

  6. Urgent Notification Intervention of Home Blood Pressure in Cohort Studies of the Tohoku Medical Megabank Project.

    Eiichi N Kodama, Makiko Taira, Hideyasu Kiyomoto, Tomohiro Nakamura, Satoshi Nagaie, Shinichi Kuriyama, Atsushi Hozawa, Junichi Sugawara, Fuji Nagami, Akira Uruno, Jun Nakaya, Hirohito Metoki, Masaki Sakaida, Masahiro Kikuya, Yoichi Suzuki, Kiyoshi Ito, Yohei Hamanaka, Kichiya Suzuki, Shigeo Kure, Nobuo Yaegashi, Nobuo Fuse, Ritsuko Shimizu, Masayuki Yamamoto

    JMA journal　7　(3)　342-352　2024/07/16

    DOI： 10.31662/jmaj.2023-0215 　

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    INTRODUCTION: The Tohoku Medical Megabank (TMM) was established for creative reconstruction from the Great East Japan Earthquake and tsunami in 2011. Two prospective genome cohort studies in Miyagi prefecture have successfully recruited approximately 127,000 participants. The health status of these individuals was evaluated at the initial recruitment, and follow-up health checkups have been conducted every 5 years. During these health checkups, unexpected critical values were encountered, which prompted us to develop an urgent notification system. METHODS: We analyzed the frequency of critical values observed in home blood pressure (HBP) test in an urgent notification office (UNO). We returned the critical values by urgent notification before the notifications of regular results. In addition, the impact of the TMM urgent notification on the participants was evaluated. RESULTS: We issued urgent notifications of the critical values of extremely high HBP. Of the 21,061 participants who underwent HBP measurements, 256 (1.2%) met the criteria for urgent notification. It was found that abnormalities in blood sugar levels, renal function, and lipid values were frequently concurrent with the abnormal HBP readings. Annual questionnaires administered after the urgent notification, approximately 60% of those went to hospitals or clinics. CONCLUSIONS: The urgent notification system for hypertensive emergency with HBP in the TMM was well accepted by the participants and encouraged them to seek medical care. The system has been useful in addressing the prolonged healthcare problems and in promoting health care in large-scale disaster damaged areas.

  7. The Health History of First-Degree Relatives’ Dyslipidemia Can Affect Preferences and Intentions following the Return of Genomic Results for Monogenic Familial Hypercholesterolemia Peer-reviewed

    Tomoharu Tokutomi, Akiko Yoshida, Akimune Fukushima, Kayono Yamamoto, Yasushi Ishigaki, HIROSHI KAWAME, Nobuo Fuse, Fuji Nagami, Yoichi Suzuki, Mika Sakurai-Yageta, Akira Uruno, Kichiya Suzuki, Kozo Tanno, Hideki Ohmomo, Atsushi Shimizu, Masayuki Yamamoto, Makoto Sasaki

    Genes　2024/03/21

    DOI： 10.3390/genes15030384 　

  8. 未発症のBRCA1/2病的バリアント保持者に対するサーベイランスの課題

    濱中 洋平, 多田 寛, 原田 成美, 宮下 穣, 江幡 明子, 佐藤 未来, 柳垣 美歌, 本成 登貴和, 川目 裕, 鈴木 洋一, 長神 風二, 布施 昇男, 大根田 絹子, 山本 雅之, 石田 孝宣

    日本乳癌検診学会学術総会プログラム抄録集　33回　148-148　2023/11

    Publisher: (NPO)日本乳癌検診学会

  9. 未発症のBRCA1/2病的バリアント保持者に対するサーベイランスの課題

    濱中 洋平, 多田 寛, 原田 成美, 宮下 穣, 江幡 明子, 佐藤 未来, 柳垣 美歌, 本成 登貴和, 川目 裕, 鈴木 洋一, 長神 風二, 布施 昇男, 大根田 絹子, 山本 雅之, 石田 孝宣

    日本乳癌検診学会学術総会プログラム抄録集　33回　148-148　2023/11

    Publisher: (NPO)日本乳癌検診学会

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

    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　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.

  11. 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

    Publisher: Japan Medical Association

    DOI： 10.31662/jmaj.2022-0220 　

    ISSN： 2433-328X

    eISSN： 2433-3298

  12. 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

    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　2023/06/06

    Publisher: Frontiers Media SA

    DOI： 10.3389/fpsyt.2023.1104222 　

    eISSN： 1664-0640

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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.

  13. ゲノムコホート研究参加者5万人を対象としたBRCA1/2遺伝情報の回付と医療への連携

    濱中 洋平, 大根田 絹子, 川目 裕, 布施 昇男, 長神 風二, 鈴木 洋一, 山口 由美, 多田 寛, 原田 成美, 宮下 穣, 江幡 明子, 佐藤 未来, 柳垣 美歌, 山本 雅之, 石田 孝宣

    日本乳癌学会総会プログラム抄録集　31回　89-89　2023/06

    Publisher: (一社)日本乳癌学会

  14. 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

  15. 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

  16. 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.

  17. 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.

    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　2022/12/01

    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.

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

    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.

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

    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　1-8　2022/10/12

    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.

  20. Returning individual genomic results to population-based cohort study participants with BRCA1/2 pathogenic variants.

    Kinuko Ohneda, Yohei Hamanaka, Hiroshi Kawame, Nobuo Fuse, Fuji Nagami, Yoichi Suzuki, Yumi Yamaguchi-Kabata, Muneaki Shimada, Atsushi Masamune, Yoko Aoki, Takanori Ishida, Masayuki Yamamoto

    Breast cancer (Tokyo, Japan)　30　(1)　110-120　2022/09/26

    DOI： 10.1007/s12282-022-01404-7 　

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    BACKGROUND: Recent advances in human genome research have provided evidence for genotype-phenotype associations, pathogenicity, and clinical actionability of variants and genomic risk prediction of disease. However, the return of individual genomic results to healthy individuals is fraught with ethical and practical complexity. METHODS: Individual genomic results were returned to BRCA1/2 pathogenic variant (PV) carriers of the Tohoku Medical Megabank cohort study participants with an information on hereditary breast and ovarian cancer syndrome (HBOC). One hundred and eighty participants, including 9 BRCA1/2 PV carriers, were asked about their willingness to receive individual genomic results, without revealing the gene name and related disorders, prior to the study. Of the 142 participants who responded, 103 showed willingness to know their genomic information. Each of the six BRCA1/2 PV carriers who consented to participate in the study received information about HBOC in person and underwent validation testing with blood resampling. RESULTS: All participants were in their 60s or 70s; of the four females and two males, two had a history of breast cancer and five had a family history of HBOC-related cancers. All participants appreciated the information, without remarkable negative psychological impact of the return, and intended to undergo clinical risk surveillance. Five participants were accompanied by family members while receiving the results, and three first-degree female relatives wished to undergo genomic testing at the hospital. CONCLUSIONS: Our results suggest that returning actionable genomic information to participants in a population-based genome cohort study is beneficial for preventing or providing early-stage intervention for associated diseases.

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

    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.

  22. Genome-wide Association Study of Axial Length in Population-based Cohorts in Japan: The Tohoku Medical Megabank Organization Eye Study. International-journal

    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

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    PURPOSE: To elucidate the differences in ocular biometric parameters by generation and gender and to identify axial length (AL)-associated genetic variants in Japanese individuals, we analyzed Tohoku Medical Megabank Organization (ToMMo) Eye Study data. DESIGN: We designed the ToMMo Eye Study, examined AL variations, and conducted genome-wide association studies (GWASs). PARTICIPANTS: In total, 33 483 participants aged > 18 years who were recruited into the community-based cohort (CommCohort) and the birth and three-generation cohort (BirThree Cohort) of the ToMMo Eye Study were examined. METHODS: Each participant was screened with an interview, ophthalmic examinations, and a microarray analysis. The GWASs were performed in 22 379 participants in the CommCohort (discovery stage) and 11 104 participants in the BirThree Cohort (replication stage). We evaluated the associations of single nucleotide polymorphisms (SNPs) with AL using a genome-wide significance threshold (5 × 10-8) in each stage of the study and in the subsequent meta-analysis. MAIN OUTCOME MEASURES: We identified the association of SNPs with AL and distributions of AL in right and left eyes and individuals of different sexes and ages. RESULTS: In the discovery stage, the mean AL of the right eye (23.99 mm) was significantly greater than that of the left eye (23.95 mm). This difference was reproducible across sexes and ages. The GWASs revealed 703 and 215 AL-associated SNPs with genome-wide significance in the discovery and validation stages, respectively, and many of the SNPs in the discovery stage were replicated in the validation stage. Validated SNPs and their associated loci were meta-analyzed for statistical significance (P < 5 × 10-8). This study identified 1478 SNPs spread over 31 loci. Of the 31 loci, 5 are known AL loci, 15 are known refractive-error loci, 4 are known corneal-curvature loci, and 7 loci are newly identified loci that are not known to be associated with AL. Of note, some of them shared functional relationships with previously identified loci. CONCLUSIONS: Our large-scale GWASs exploiting ToMMo Eye Study data identified 31 loci linked to variations in AL, 7 of which are newly reported in this article. The results revealed genetic heterogeneity and similarity in SNPs related to ethnic variations in AL.

  23. dbTMM: an integrated database of large-scale cohort, genome and clinical data for the Tohoku Medical Megabank Project

    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, Masayuki Yamamoto, Michiaki Abe, Yayoi Aizawa, Yuichi Aoki, Koichi Chida, Inaho Danjoh, Shinichi Egawa, Ai Eto, Takamitsu Funayama, Nobuo Fuse, Yohei Hamanaka, Yuki Harada, Hiroaki Hashizume, Shinichi Higuchi, Sachiko Hirano, Takumi Hirata, Masahiro Hiratsuka, Atsushi Hozawa, Kazuhiko Igarashi, Jin Inoue, Noriko Ishida, Naoto Ishii, Tadashi Ishii, Mami Ishikuro, Kiyoshi Ito, Sadayoshi Ito, Maiko Kageyama, Fumiki Katsuoka, Hiroshi Kawame, Junko Kawashima, Masahiro Kikuya, Kengo Kinoshita, Kazuyuki Kitatani, Tomomi Kiyama, Hideyasu Kiyomoto, Tomoko Kobayashi, Eiichi Kodama, Mana Kogure, Kaname Kojima, Sachie Koreeda, Seizo Koshiba, Shihoko Koyama, Hisaaki Kudo, Kazuki Kumada, Shigeo Kure, Miho Kuriki, Shinichi Kuriyama, Yoko Kuroki, Norihide Maikusa, Satoshi Makino, Hiroko Matsubara, Hiroyuki Matsui, Hirohito Metoki, Takahiro Mimori, Naoko Minegishi, Kazuharu Misawa

    Human Genome Variation　8　(1)　2021/12

    DOI： 10.1038/s41439-021-00175-5 　

    eISSN： 2054-345X

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

    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　2021/07/08

    DOI： 10.1038/s10038-021-00952-8 　

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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.

  25. ゲノムコホート研究におけるBRCA1/2遺伝情報返却とその後の医療機関との連携の取組み

    濱中 洋平, 多田 寛, 宮下 穣, 原田 成美, 佐藤 章子, 江幡 明子, 大根田 絹子, 布施 昇男, 川目 裕, 鈴木 洋一, 長神 風二, 鈴木 吉也, 佐藤 政文, 平塚 真弘, 櫻井 美佳, 宇留野 晃, 山口 由美, 平良 摩紀子, 山本 雅之, 石田 孝宣

    日本乳癌学会総会プログラム抄録集　29回　21-21　2021/07

    Publisher: (一社)日本乳癌学会

  26. ゲノムコホート研究におけるBRCA1/2遺伝情報返却とその後の医療機関との連携の取組み

    濱中 洋平, 多田 寛, 宮下 穣, 原田 成美, 佐藤 章子, 江幡 明子, 大根田 絹子, 布施 昇男, 川目 裕, 鈴木 洋一, 長神 風二, 鈴木 吉也, 佐藤 政文, 平塚 真弘, 櫻井 美佳, 宇留野 晃, 山口 由美, 平良 摩紀子, 山本 雅之, 石田 孝宣

    日本乳癌学会総会プログラム抄録集　29回　21-21　2021/07

    Publisher: (一社)日本乳癌学会

  27. 多因子疾患の遺伝情報回付に関するステークホルダーの意識調査

    吉田 明子, 徳富 智明, 長神 風二, 箕浦 祐子, 中山 文予, 福島 明宗, 佐々木 真理

    日本遺伝カウンセリング学会誌　42　(2)　120-120　2021/06

    Publisher: (一社)日本遺伝カウンセリング学会

    ISSN： 1347-9628

  28. 【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】(第6章)契約、社会還元と倫理指針 バイオバンクにおける成果発信とコミュニケーション

    長神 風二, 相澤 弥生

    実験医学　39　(7)　1158-1163　2021/05

    Publisher: (株)羊土社

    ISSN： 0288-5514

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

    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　2021

    DOI： 10.3389/fpsyt.2021.799029 　

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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.

  30. 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)　2020/12

    Publisher: Springer Science and Business Media LLC

    DOI： 10.1038/s41398-020-00957-5 　

    eISSN： 2158-3188

  31. Improved metabolomic data-based prediction of depressive symptoms using nonlinear machine learning with feature selection 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)　2020/12/01

    DOI： 10.1038/s41398-020-0831-9 　

    eISSN： 2158-3188

  32. 【周産期メンタルヘルスの今】東北メディカル・メガバンク事業出生コホートを起点とした産後うつ病研究

    菊地 紗耶, 小林 奈津子, 小野 千晶, 割田 紀子, 村上 慶子, 小原 拓, 長神 風二, 栗山 進一, 富田 博秋

    精神医学　62　(9)　1245-1251　2020/09

    Publisher: (株)医学書院

    ISSN： 0488-1281

    eISSN： 1882-126X

  33. ゲノムコホート調査におけるゲノム薬理学(PGx)遺伝情報返却(回付)のパイロット研究

    濱中 洋平, 大根田 絹子, 布施 昇男, 川目 裕, 長神 風二, 平塚 真弘, 宇留野 晃, 櫻井 美佳, 平良 摩紀子, 鈴木 吉也, 鈴木 洋一, 山本 雅之

    日本遺伝カウンセリング学会誌　41　(2)　122-122　2020/06

    Publisher: (一社)日本遺伝カウンセリング学会

    ISSN： 1347-9628

  34. Design and Progress of Oral Health Examinations in the Tohoku Medical Megabank Project

    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

    TOHOKU JOURNAL OF EXPERIMENTAL MEDICINE　251　(2)　97-115　2020/06

    DOI： 10.1620/tjem.251.97 　

    ISSN： 0040-8727

    eISSN： 1349-3329

  35. Public Relations and Communication Strategies in Construction of Large-Scale Cohorts and Biobank: Practice in the Tohoku Medical Megabank Project.

    Fuji Nagami, Miho Kuriki, Sachie Koreeda, Maiko Kageyama, Osamu Shimizu, Soichiro Toda, Atsushi Hozawa, Shinichi Kuriyama, Noriko Osumi, Masayuki Yamamoto

    The Tohoku journal of experimental medicine　250　(4)　253-262　2020/04

    DOI： 10.1620/tjem.250.253 　

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    The Tohoku Medical Megabank Project was designed as part of the national reconstruction project for addressing the damage from the 2011 Great East Japan Earthquake. It is an integrated project involving the genome cohort study of 150,000 participants, integrated biobank construction, and multi-omics analyses. Public relations and communication activities emerged to be extremely important in the successful development of this project. To gain insights into the contributions of these activities, we divided the public relations and communication activities for the project into three phases based on the situations surrounding the project. Prior to the start of the cohort study (Phase I), a cooperative relationship was established with a focus on concluding cooperation agreements with local governments. Until the participants reached the target number (Phase II), we actively communicated with the media to publicize the project. During the phase in which use of the constructed biobank is promoted (Phase III), for ensuring the industrial utilization of the biobank, visits from the industry are promoted. Throughout the execution of these activities, we explored the best strategies for building relationships with multiple stakeholders like local government, media and industry. By paying attention to these phases that have been changing according to the project's progress, we were able to adapt the strategies and methods of public relations and communication. The success of these activities has enabled the overall project to progress smoothly. We hope that the process of designing our project's public relations and communication activities will be useful for other similar initiatives.

  36. コホート調査参加者に対するゲノム薬理学(PGx)遺伝情報の返却(回付) 個別化予防・医療の確立を目指して

    大根田 絹子, 布施 昇男, 川目 裕, 長神 風二, 平塚 真弘, 櫻井 美佳, 濱中 洋平, 鈴木 吉也, 鈴木 洋一, 山本 雅之

    日本薬学会年会要旨集　140年会　27K-pm08　2020/03

    Publisher: (公社)日本薬学会

    ISSN： 0918-9823

  37. A proposal on the first Japanese practical guidance for the return of individual genomic results in research settings. Peer-reviewed

    Aizawa Y, Nagami F, Ohashi N, Kato K

    Journal of human genetics　65　(3)　251-261　2019/12

    DOI： 10.1038/s10038-019-0697-y 　

    ISSN： 1434-5161

    eISSN： 1435-232X

  38. Construction of JRG (Japanese reference genome) with single-molecule real-time sequencing

    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　2019/12/01

    DOI： 10.1038/s41439-019-0057-7 　

    eISSN： 2054-345X

  39. Establishment of Integrated Biobank for Precision Medicine and Personalized Healthcare: The Tohoku Medical Megabank Project. Peer-reviewed

    Fuse N, Sakurai-YagetaM, Katsuoka F, Danjoh I, Shimizu R, Tamiya G, Nagami F, Kawame H, Higuchi S, Kinoshita K, Kure S, Yamamoto M

    JMA Journal　2　(2)　113-122　2019/09

    DOI： 10.31662/jmaj.2019-0014. 　

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    The Tohoku Medical Megabank (TMM) project was established to provide creative reconstruction of the Tohoku area that suffered from a huge earthquake and ensuing tsunami (the Great East Japan Earthquake, GEJE). TMM aims to establish two large-scale genome cohorts and an integrated biobank managing biospecimen and related information. It supports community medicine by establishing next-generation medical systems through a combination of the prospective genome cohort studies with a total of 150,000 participants and genomic medicine. The strategies for genome analyses in TMM are to develop an elaborate genome reference panel by means of high-fidelity Japanese whole-genome sequence, to design custom single nucleotide polymorphism (SNP) arrays based on the reference panel, and to obtain genotype data for all the TMM cohort participants subsequently. Disease-associated genomic information and omics data, including metabolomics and microbiome analysis, provide an essential platform for precision medicine and personalized healthcare (PHC). Ethical, legal, and social issues (ELSI) and education are important for implementing genomic medicine. The major considerations of ELSI regarding each participant of the cohort studies are the respect for the autonomy and the protection of privacies. Moreover, developing and provide human resources not only for the TMM project but also for the social implementation of precision medicine and PHC is required. We started a pilot study of the return of genomic results for familial hypercholesterolemia (FH) as a target disease. TMM aims to establish solid platforms that support precision medicine and PHC based on the genomic and omics information and environmental and lifestyle factors of the individuals, which is one of the most advanced medical care beyond the evidenced-based medicine in the near future.

  40. 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　2019/08/25

    DOI： 10.1093/ije/dyz169 　

    ISSN： 0300-5771

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

    Sakurai-Yageta M, Kawame H, Kuriyama S, Hozawa A, Nakaya N, Nagami F, Minegishi N, Ogishima S, Takai-Igarashi T, Danjoh I, Obara T, Ishikuro M, Kobayashi T, Aizawa Y, Ishihara R, Yamamoto M, Suzuki Y

    BMC medical education　19　(1)　297　2019/08

    DOI： 10.1186/s12909-019-1725-5 　

    ISSN： 1472-6920

  42. 研究における個人の遺伝情報の結果返却に関する提言の作成

    相澤 弥生, 長神 風二, 大橋 範子, 加藤 和人

    日本遺伝カウンセリング学会誌　40　(2)　170-170　2019/07

    Publisher: (一社)日本遺伝カウンセリング学会

    ISSN： 1347-9628

  43. 遺伝教育は血縁者の健康管理のために自身の遺伝学的検査結果を共有する意識を強くする

    徳富 智明, 吉田 明子, 福島 明宗, 山本 佳世乃, 石垣 泰, 川目 裕, 布施 昇男, 長神 風二, 鈴木 吉也, 宇留野 晃, 櫻井 美佳, 沼田 早苗, 中山 文予, 山本 雅之, 佐々木 真理

    日本遺伝カウンセリング学会誌　40　(2)　76-76　2019/07

    Publisher: (一社)日本遺伝カウンセリング学会

    ISSN： 1347-9628

  44. 大規模ゲノムコホート調査におけるBRCA1/2遺伝子の病的バリアント保持者への遺伝情報回付に関する課題

    濱中 洋平, 石田 孝宣, 布施 昇男, 川目 裕, 山口 由美, 安田 純, 多田 寛, 宮下 穣, 原田 成美, 佐藤 章子, 青木 洋子, 長神 風二, 八重樫 伸生, 木下 賢吾, 呉 繁夫, 山本 雅之

    日本乳癌学会総会プログラム抄録集　27回　332-332　2019/07

    Publisher: (一社)日本乳癌学会

  45. 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

  46. メタボロームデータを用いた非線形変数選択機械学習によるうつ状態の予測

    高橋 雄太, 植木 優夫, 山田 誠, 田宮 元, 元池 育子, 三枝 大輔, 櫻井 美由紀, 長神 風二, 小柴 生造, 木下 賢吾, 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

  47. Prefabricated Temporary Housing and Eczema or Respiratory Symptoms in Schoolchildren after the Great East Japan Earthquake: The ToMMo Child Health Study. International-journal Peer-reviewed

    Kuniyoshi Y, Kikuya M, Miyashita M, Yamanaka C, Ishikuro M, Obara T, Metoki H, Nakaya N, Nagami F, Tomita H, Hozawa A, Tsuji I, Kure S, Yaegashi N, Kuriyama S

    Disaster medicine and public health preparedness　13　(5-6)　1-7　2019/06

    DOI： 10.1017/dmp.2019.8 　

    ISSN： 1935-7893

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    OBJECTIVE: We aimed to investigate the association between types of housing and allergic symptoms at 3-4 years following the Great East Japan Earthquake. METHODS: Our study was based on the ToMMo Child Health Study conducted in 2014 and 2015, a cross-sectional survey of public school children in Miyagi Prefecture, Japan. Of the 46 648 invited schoolchildren in the 2nd to 8th grades, 9884 were included. Presence of eczema, wheezing, and mental health symptoms was defined with questionnaires. To calculate odds ratios (ORs) and 95% CIs for the associations between types of housing and eczema or respiratory symptoms, we fitted generalized linear mixed models, included a random effect for municipality of residence, and adjusted for sex, school grade, survey year, and mental health symptoms. RESULTS: Prefabricated temporary housing was significantly associated with eczema symptoms (OR, 1.46; 95% CI, 1.06-2.02). Even after adjusting for the presence of mental health symptoms, our analysis produced similar results (OR, 1.42; 95% CI, 1.03-1.96). Conversely, it was not significantly associated with respiratory symptoms (OR, 0.97; 95% CI, 0.61-1.54). CONCLUSIONS: Children living in prefabricated temporary housing had a higher prevalence of eczema symptoms; however, prevalence of respiratory symptoms was not significantly higher.

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

    Yasuda J, Kinoshita K, Katsuoka F, Danjoh I, Sakurai-Yageta M, Motoike IN, Kuroki Y, Saito S, Kojima K, Shirota M, Saigusa D, Otsuki A, Kawashima J, Yamaguchi-Kabata Y, Tadaka S, Aoki Y, Mimori T, Kumada K, Inoue J, Makino S, Kuriki M, Fuse N, Koshiba S, Tanabe O, Nagasaki M, Tamiya G, Shimizu R, Takai-Igarashi T, Ogishima S, Hozawa A, Kuriyama S, Sugawara J, Tsuboi A, Kiyomoto H, Ishii T, Tomita H, Minegishi N, Suzuki Y, Suzuki K, Kawame H, Tanaka H, Taki Y, Yaegashi N, Kure S, Nagami F, Tohoku Medical Megabank Project, Study Group, Kosaki K, Sutoh Y, Hachiya T, Shimizu A, Sasaki M, Yamamoto M

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

    DOI： 10.1093/jb/mvy096 　

    ISSN： 0021-924X

    eISSN： 1756-2651

  49. 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

  50. Strategic Methods for Recruiting Grandparents: The Tohoku Medical Megabank Birth and Three-Generation Cohort Study. Peer-reviewed

    Mami Ishikuro, Taku Obara, Tamae Osanai, Chizuru Yamanaka, Yuki Sato, Satoshi Mizuno, Masako Miyashita, Masahiro Kikuya, Kasumi Sakurai, Atsushi Hozawa, Hiroaki Tomita, Yasuyuki Taki, Fuji Nagami, Hirohito Metoki, Shinichi Kuriyama

    The Tohoku journal of experimental medicine　246　(2)　97-105　2018/10

    DOI： 10.1620/tjem.246.97 　

    ISSN： 0040-8727

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    Involvement of family members, especially grandparents, in genome epidemiological research is important to investigate both genetic and environmental factors of common diseases. The aim of the present study was to establish strategies to obtain enough number of family recruitment, especially focusing on grandparents, for the Tohoku Medical Megabank Birth and Three-Generation Cohort Study. Our main strategies are summarized below. 1) We standardized informed consent process with reference materials to help people understand the consent form, 2) we created an invitation letter to contact family members, and 3) we recruited family members in several settings. To obtain informed consent, we were careful of explaining clearly the complex reasons as well as drawing people's attention. By the end of March 2017, the number of invitation letters distributed to family members through the pregnant women was 23,806, including 18,702 grandparents. Among the grandparents who received invitation letters, 2,935 (15.7%) responded to us. Furthermore, some grandparents were asked to provide informed consent with other family members by staff at maternal clinics or Community Support Centers, and others directly booked Community Support Centers without responding to the invitation letter. Grandparents joined the study anytime during mother's maternal check-ups or delivery. Overall, 8,054 grandparents participated in our birth cohort study. The setting in which most grandparents were recruited was our own facilities. Importantly, both paternal and maternal grandparents more frequently participated in the study if the father also participated. In conclusion, we are able to recruit not only pregnant women but also fathers and grandparents.

  51. Severity of eczema and mental health problems in Japanese schoolchildren: The ToMMo Child Health Study. International-journal Peer-reviewed

    Yasutaka Kuniyoshi, Masahiro Kikuya, Masako Miyashita, Chizuru Yamanaka, Mami Ishikuro, Taku Obara, Hirohito Metoki, Naoki Nakaya, Fuji Nagami, Hiroaki Tomita, Atsushi Hozawa, Ichiro Tsuji, Shigeo Kure, Nobuo Yaegashi, Masayuki Yamamoto, Shinichi Kuriyama

    Allergology international : official journal of the Japanese Society of Allergology　67　(4)　481-486　2018/10

    DOI： 10.1016/j.alit.2018.02.009 　

    ISSN： 1323-8930

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    BACKGROUND: The association between eczema and mental health problems in schoolchildren has been underexplored. We aimed to investigate this association with the validated questionnaires. METHODS: Of 46,648 invited children, we analyzed 9954 (21.3%) in the 2nd to the 8th grades from the ToMMo Child Health Study conducted in 2014 and 2015, a cross-sectional survey in Miyagi Prefecture, Japan. We defined eczema status as "normal," "mild/moderate," or "severe," based on the presence of persistent flexural eczema and sleep disturbance, according to the International Study of Asthma and Allergies in Childhood (ISAAC) Eczema Symptom Questionnaire. Clinical ranges of Strengths and Difficulties Questionnaire (SDQ) total difficulties scores and four SDQ subcategories of emotional symptoms, conduct problems, hyperactivity/inattention, and peer problems were defined as scores ≥16, ≥5, ≥5, ≥7, and ≥5, respectively. RESULTS: The mean SDQ total difficulties score significantly increased as eczema status worsened (all P ≤ 0.004 for trend). The OR of scores in the clinical range for SDQ total difficulties were 1.51 (95% CI, 1.31-1.74) for mild/moderate eczema and 2.63 (95% CI, 1.91-3.63) for severe eczema (P < 0.001 for trend), adjusted for sex, school grade, current wheeze, and disaster-related factors, using normal eczema as a reference. The association between severity of eczema and four SDQ subcategories showed a similar trend (all P ≤ 0.017 for trend). CONCLUSIONS: We found a significant association between severity of eczema and mental health problems. The presence of eczema was associated with four SDQ subcategories.

  52. 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

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    Clarifying allele frequencies of disease-related genetic variants in a population is important in genomic medicine; however, such data is not yet available for the Japanese population. To estimate frequencies of actionable pathogenic variants in the Japanese population, we examined the reported pathological variants in genes recommended by the American College of Medical Genetics and Genomics (ACMG) in our reference panel of genomic variations, 2KJPN, which was created by whole-genome sequencing of 2049 individuals of the resident cohort of the Tohoku Medical Megabank Project. We searched for pathogenic variants in 2KJPN for 57 autosomal ACMG-recommended genes responsible for 26 diseases and then examined their frequencies. By referring to public databases of pathogenic variations, we identified 143 reported pathogenic variants in 2KJPN for the 57 ACMG recommended genes based on a classification system. At the individual level, 21% of the individuals were found to have at least one reported pathogenic allele. We then conducted a literature survey to review the variants and to check for evidence of pathogenicity. Our results suggest that a substantial number of people have reported pathogenic alleles for the ACMG genes, and reviewing variants is indispensable for constructing the information infrastructure of genomic medicine for the Japanese population.

  53. Development and Practice of new method to expert knowledge and information to convey on the practical application of genome medicine

    KOBAYASHI Tomoko, KANO Kei, KAWAKAMI Masahiro, NAGAMI Fuji

    Proceedings of the Annual Meeting of Japan Society for Science Education　42　(0)　309-310　2018

    Publisher: Japan Society for Science Education

    DOI： 10.14935/jssep.42.0_309 　

    ISSN： 2186-3628

  54. 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

  55. 住民コホート研究における個人への遺伝情報回付(返却) 東北メディカル・メガバンク計画の試み

    川目 裕, 福島 明宗, 長神 風二, 鈴木 洋一, 川口 悦生, 布施 昇男, 徳富 智明, 山本 佳世乃, 沼田 早苗, 小林 朋子, 相澤 弥生, 佐々木 真理, 山本 雅之

    日本遺伝カウンセリング学会誌　38　(2)　95-95　2017/05

    Publisher: 日本遺伝カウンセリング学会

    ISSN： 1347-9628

  56. ゲノムコホート研究における個人への遺伝情報の結果返却に関する遺伝カウンセリング記録の運用についての取り組みと今後の課題

    相澤 弥生, 高井 貴子, 沼田 早苗, 山本 佳世乃, 徳富 智明, 福島 明宗, 小林 朋子, 長神 風二, 鈴木 洋一, 川口 悦生, 布施 昇男, 川目 裕, 佐々木 真理, 山本 雅之

    日本遺伝カウンセリング学会誌　38　(2)　95-95　2017/05

    Publisher: 日本遺伝カウンセリング学会

    ISSN： 1347-9628

  57. Monitoring of minimal residual disease in early T-cell precursor acute lymphoblastic leukaemia by next-generation sequencing Peer-reviewed

    Xiaoqing Pan, Naoki Nariai, Noriko Fukuhara, Sakae Saito, Yukuto Sato, Fumiki Katsuoka, Kaname Kojima, Yoko Kuroki, Inaho Danjoh, Rumiko Saito, Shin Hasegawa, Yoko Okitsu, Aiko Kondo, Yasushi Onishi, Fuji Nagami, Hideyasu Kiyomoto, Atsushi Hozawa, Nobuo Fuse, Masao Nagasaki, Ritsuko Shimizu, Jun Yasuda, Hideo Harigae, Masayuki Yamamoto

    BRITISH JOURNAL OF HAEMATOLOGY　176　(2)　318-321　2017/01

    DOI： 10.1111/bjh.13948 　

    ISSN： 0007-1048

    eISSN： 1365-2141

  58. 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

  59. ゲノムコホート研究における遺伝を専門とする看護師の役割 遺伝情報の結果返却に関連して

    相澤 弥生, 小林 朋子, 川口 悦生, 長神 風二, 安田 純, 布施 昇男, 鈴木 洋一, 川目 裕

    日本遺伝看護学会誌　15　(1)　33-33　2016/08

    Publisher: 日本遺伝看護学会

    ISSN： 1881-3267

  60. Public Attitudes toward an Epidemiological Study with Genomic Analysis in the Great East Japan Earthquake Disaster Area Peer-reviewed

    Mami Ishikuro, Naoki Nakaya, Taku Obara, Yuki Sato, Hirohito Metoki, Masahiro Kikuya, Naho Tsuchiya, Tomohiro Nakamura, Fuji Nagami, Shinichi Kuriyama, Atsushi Hozawa

    PREHOSPITAL AND DISASTER MEDICINE　31　(3)　330-334　2016/06

    DOI： 10.1017/S1049023X16000182 　

    ISSN： 1049-023X

    eISSN： 1945-1938

  61. Eczema and Asthma Symptoms among Schoolchildren in Coastal and Inland Areas after the 2011 Great East Japan Earthquake: The ToMMo Child Health Study Peer-reviewed

    Masako Miyashita, Masahiro Kikuya, Chizuru Yamanaka, Mami Ishikuro, Taku Obara, Yuki Sato, Hirohito Metoki, Naoki Nakaya, Fuji Nagami, Hiroaki Tomita, Hideyasu Kiyomoto, Junichi Sugawara, Atsushi Hozawa, Nobuo Fuse, Yoichi Suzuki, Ichiro Tsuji, Shigeo Kure, Nobuo Yaegashi, Masayuki Yamamoto, Shinichi Kuriyama

    TOHOKU JOURNAL OF EXPERIMENTAL MEDICINE　237　(4)　297-305　2015/12

    DOI： 10.1620/tjem.237.297 　

    ISSN： 0040-8727

    eISSN： 1349-3329

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

    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　2015/08/21

    DOI： 10.1038/ncomms9018 　

    eISSN： 2041-1723

  63. Protocol and Research Perspectives of the ToMMo Child Health Study after the 2011 Great East Japan Earthquake Peer-reviewed

    Masahiro Kikuya, Masako Miyashita, Chizuru Yamanaka, Mami Ishikuro, Yuki Sato, Taku Obara, Hirohito Metoki, Naoki Nakaya, Fuji Nagami, Hiroaki Tomita, Hideyasu Kiyomoto, Junichi Sugawara, Atsushi Hozawa, Nobuo Fuse, Yoichi Suzuki, Ichiro Tsuji, Shigeo Kure, Nobuo Yaegashi, Masayuki Yamamoto, Shinichi Kuriyama

    TOHOKU JOURNAL OF EXPERIMENTAL MEDICINE　236　(2)　123-130　2015/06

    DOI： 10.1620/tjem.236.123 　

    ISSN： 0040-8727

    eISSN： 1349-3329

  64. Knowledge for democracy : A science communicator dreams of libraries

    NAGAMI Fuji

    Journal of Information Processing and Management　53　(6)　348-351　2010

    Publisher: Japan Science and Technology Agency

    DOI： 10.1241/johokanri.53.348 　

    ISSN： 0021-7298

  65. Information distribution in life sciences communication : The forum at Biochemistry and Molecular Biology 2008 Peer-reviewed

    NAGAMI Fuji

    Journal of Information Processing and Management　52　(2)　77-85　2009/05

    Publisher: Japan Science and Technology Agency

    DOI： 10.1241/johokanri.52.77 　

    ISSN： 0021-7298 1347-1597

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    A forum featured scientific information distribution was held at one of the biggest meetings on life sciences in Japan. The forum organized by the author did not have a great success with many participants, but there were some fruits. I and a co-organizer presented the concepts such as "serials crisis", "institutional repositories" and "open access", those unfamiliar for general life scientists. Scientific information distribution was shown to be important for science communication and the progress of research. From the view point of science communication, several points are turned out to have a great significance. Self-archiving by researchers themselves and the institutional and financial support system for encouraging that, requests for institutional repositories of huge national research agencies, and the big role of funding agencies are those points. Some proposals to improve the current scientific information distribution from the view point of science communication.

  66. Facilitating science communication activities in Japan: Science Agora 2006, 2007 and 2008 Peer-reviewed

    Japanese journal of science communication　(5)　3-18　2009

    Publisher:

    ISSN： 1881-8390

  67. Science communication and libraries Peer-reviewed

    NAGAMI Fuji

    Journal of Information Processing and Management　51　(5)　321-333　2008/08

    Publisher: Japan Science and Technology Agency

    DOI： 10.1241/johokanri.51.321 　

    ISSN： 0021-7298 1347-1597

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    Since the beginning of the 21st century, science communication becomes more popular issues than ever in Japan. Several national educational projects started and many groups (NPOs, research groups, funding agencies, science centres, etc.) or individuals are putting various plans in execution. In this report, several practices on science communication by libraries are described, and the role of libraries as space in science communication is discussed. Libraries could play the key mediate roles in dual directional communication between society and sciences.<br>

  68. Connecting the various sectors in science: Science Agora 2006 Peer-reviewed

    Japanese journal of science communication　(1)　14-24　2007

    Publisher:

    ISSN： 1881-8390

  69. ヨーロッパにおける科学のネットワーク : ESOF2006参加報告 Peer-reviewed

    長神風二

    科学技術コミュニケーション　(2)　77-87　2007

  70. Time-lapse imaging of conformational changes in supercoiled DNA by scanning force microscopy Peer-reviewed

    F Nagami, G Zuccheri, B Samori, R Kuroda

    ANALYTICAL BIOCHEMISTRY　300　(2)　170-176　2002/01

    DOI： 10.1006/abio.2001.5435 　

    ISSN： 0003-2697

  71. Imaging of plectonemic supercoiled DNA with the scanning force microscope Peer-reviewed

    G Zuccheri, F Nagami, R Kuroda, B Samori

    PROCEEDINGS OF THE 5TH MULTINATIONAL CONGRESS ON ELECTRON MICROSCOPY　153-154　2001

  72. AFM characterization of single strand-specific endonuclease activity on linear DNA Peer-reviewed

    Umemura Kazuo, Nagami Fuji, Okada Takao, Kuroda Reiko

    Nucleic Acids Res.　28　(9)　e39, ii-v　2000

    DOI： 10.1093/nar/28.9.e39 　

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Misc. 18

  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. ゲノムコホート研究におけるBRCA1/2病的バリアント保持者への遺伝情報回付:遺伝情報回付による心理的・社会的影響の解析

    大根田絹子, 濱中洋平, 濱中洋平, 川目裕, 川目裕, 鈴木洋一, 鈴木洋一, 長神風二, 長神風二, 布施昇男, 布施昇男, 山本雅之, 山本雅之

    日本人類遺伝学会大会プログラム・抄録集　67th (CD-ROM)　2022

  3. ゲノムコホート研究参加者へのBRCA1/2遺伝情報回付の取り組み

    大根田絹子, 濱中洋平, 濱中洋平, 川目裕, 川目裕, 鈴木洋一, 鈴木洋一, 長神風二, 布施昇男, 布施昇男, 山本雅之, 山本雅之

    日本人類遺伝学会大会プログラム・抄録集　66th (CD-ROM)　2021

  4. 東北メディカル・メガバンク計画における遺伝情報返却の課題

    濱中洋平, 濱中洋平, 大根田絹子, 布施昇男, 川目裕, 川目裕, 長神風二, 鈴木吉也, 鈴木洋一, 鈴木洋一, 佐藤政文, 平塚真弘, 櫻井美佳, 宇留野晃, 山口由美, 平良摩紀子, 山本雅之, 濱中洋平, 濱中洋平

    日本人類遺伝学会大会プログラム・抄録集　65th (CD-ROM)　2020

  5. ゲノムコホート調査参加者に対するゲノム薬理学(PGx)遺伝情報の返却(回付)-PGxの知識・理解に関する調査票解析

    大根田絹子, 布施昇男, 川目裕, 川目裕, 長神風二, 鈴木吉也, 鈴木洋一, 鈴木洋一, 佐藤政文, 櫻井美佳, 宇留野晃, 濱中洋平, 平良摩紀子, 平塚真弘, 山本雅之, 山本雅之

    日本人類遺伝学会大会プログラム・抄録集　65th (CD-ROM)　2020

  6. 大規模ゲノムコホート調査におけるBRCA1/2遺伝子の病的バリアント保持者への遺伝情報回付に関する課題

    濱中 洋平, 石田 孝宣, 布施 昇男, 川目 裕, 山口 由美, 安田 純, 多田 寛, 宮下 穣, 原田 成美, 佐藤 章子, 青木 洋子, 長神 風二, 八重樫 伸生, 木下 賢吾, 呉 繁夫, 山本 雅之

    日本乳癌学会総会プログラム抄録集　27回　332-332　2019/07

    Publisher: (一社)日本乳癌学会

  7. Development and practice for new way to expert knowledge and information to convey genome medicine

    小林朋子, 安田有理, 平沢晃, 吉田晶子, 加納圭, 飯野均, 川上雅弘, 長神風二

    日本遺伝子診療学会大会プログラム・抄録集　26th　2019

  8. 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

  9. 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

  10. ETHICAL ISSUES AND DATA PROTECTION WITHIN THE TOHOKU MEDICAL MEGABANK PROJECT

    Fuji Nagami, Hiroaki Tomita

    EUROPEAN NEUROPSYCHOPHARMACOLOGY　27　S122-S123　2017/10

    ISSN： 0924-977X

    eISSN： 1873-7862

  11. バイオバンクにおける倫理的課題―時間経過に関する一側面を中心に Invited

    長神風二

    実験医学　増刊Vol.35　(No.17)　165-169　2017/10

  12. 「遺伝の仕組み」と「多様性」を学ぶための小児を対象とした遺伝教育ツール開発の取り組み

    小林 朋子, 菅原 美智子, 石原 利乃, 本郷 一夫, 相澤 弥生, 山口 由美, 齋藤 さかえ, 田中 由佳里, 栗木 美穂, 長神 風二, 安田 純, 栗山 進一, 川目 裕, 山本 雅之, 鈴木 洋一

    日本遺伝カウンセリング学会誌　38　(2)　89-89　2017/05

    ISSN： 1347-9628

  13. 遺伝と遺伝性疾患に関する講習会 ゲノムコホート研究における個人への遺伝情報の回付に関するパイロット研究参加者への試み

    徳富 智明, 清水 厚志, 福島 明宗, 山本 佳世乃, 石垣 泰, 川目 裕, 長神 風二, 小林 朋子, 相澤 弥生, 沼田 早苗, 鈴木 洋一, 布施 昇男, 菅原 敦子, 中山 文予, 山本 雅之, 佐々木 真理

    日本遺伝カウンセリング学会誌　38　(2)　144-144　2017/05

    Publisher: 日本遺伝カウンセリング学会

    ISSN： 1347-9628

  14. 「遺伝の仕組み」と「多様性」を学ぶための小児を対象とした遺伝教育ツール開発の取り組み

    小林朋子, 小林朋子, 菅原美智子, 石原利乃, 本郷一夫, 相澤弥生, 山口由美, 齋藤さかえ, 田中由佳里, 栗木美穂, 長神風二, 安田純, 櫻井美佳, 栗山進一, 川目裕, 鈴木吉也, 山本雅之, 鈴木洋一, 鈴木洋一

    日本人類遺伝学会大会プログラム・抄録集　62nd　324　2017

  15. 東日本大震災時におけるweb広報活動

    一條肇, 長神風二, 大隅典子

    生理学技術研究会報告・生物学技術研究会報告合同技術研究会報告　2012　22-25　2012/06/25

    ISSN： 0285-3299

  16. Science communication, library and massive earthquake

    NAGAMI Fuji, IKESHIRO Kaori

    The Journal of Information Science and Technology Association　61　(6)　238-243　2011/06/01

    Publisher: Information Science and Technology Association (INFOSTA)

    ISSN： 0913-3801

    More details Close

    Science communication aims to share academic information with public from the stage of production. Though libraries stock and circulate academic information after its production, science communication and libraries have much in common about their aims and characters. In this article, we share our experience on the massive earthquake on 11^<th> March, 2011, and analyze from the view of science communication. Information at the emergency directly links to the lives. Creative corporation between librarians and science communicators lead to the proposal for the novel system for academic information publication.

  17. Science in Society : For Nurturing the Next Generation

    NAGAMI Fuji

    Journal of the Japan Society of Mechanical Engineers　114　(1107)　90-93　2011/02/05

    Publisher: The Japan Society of Mechanical Engineers

    ISSN： 0021-4728

  18. How Do Research Institutes Contribute to Society? : Based on Mutural Understandings

    NAGAMI Fuji

    Journal of the Japan Society of Mechanical Engineers　114　(1107)　110-111　2011/02/05

    Publisher: The Japan Society of Mechanical Engineers

    ISSN： 0021-4728

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Books and Other Publications 1

  1. 予定不調和―サイエンスがひらく、もう一つの世界

    長神風二

    ディスカヴァー・トゥエンティワン　2010/04

    ISBN: 4887597940

    More details Close

    「体細胞由来クローン」 「脳画像技術による嘘発見器」 「遺伝子ドーピング」…。 最先端の科学によって登場しつつある“今までになかったもの”は、 単に生活を便利にするだけでなく、私たちの価値観を揺さぶる存在に。 ある技術だけを推し進めた際に生じる「予定不調和」。 一見、気味悪そうな現象に「調和」をもたらすためには、何が必要なのか? 近未来を想定したフィクションで多彩な事例を紹介しつつ、 研究の今を描き出す異色の作。

Presentations 3

  1. Genetic counseling at the return of individual genomic results from genome cohort study International-presentation

    Yayoi Aizawa, Fuji Nagami, Hiroshi Kawame

    Genome ELSI Kyoto 2017：International Symposium on Genomics and Society　2017/11/14

  2. Tohoku Medical Megabank Project; Its ethical aspects International-presentation

    Fuji Nagami

    Genome ELSI Kyoto 2017：International Symposium on Genomics and Society　2017/11/14

  3. How to be trusted as the public project after the disaster? -Challenge of Tohoku Medical Megabank Project- International-presentation

    Fuji Nagami

    Genome ELSI Kyoto 2017：International Symposium on Genomics and Society　2017/11/14

Research Projects 4

  1. 国内外の個人情報保護法制が日本の学術研究・イノベーション創出にもたらす影響

    隅藏 康一, 石井 夏生利, 小泉 周, 板倉 陽一郎, 長神 風二, 藤田 正典

    Offer Organization: 日本学術振興会

    System: 科学研究費助成事業

    Category: 基盤研究(B)

    Institution: 政策研究大学院大学

    2022/04/01 - 2025/03/31

  2. 疾患発症リスクの返却におけるELSI課題の検討

    長神 風二, 田宮 元, 相澤 弥生

    Offer Organization: 日本学術振興会

    System: 科学研究費助成事業

    Category: 基盤研究(C)

    Institution: 東北大学

    2021/04/01 - 2024/03/31

    More details Close

    本研究は、全ゲノム規模の解析情報から計算された疾患発症リスクを本人に返却することにおける倫理的法的社会的課題（ELSI）について検討を行っている。 まず、1990年代以降のGWASの誕生から大規模化、大規模化の限界（効果の小さなバリアントのみが検出される）が明らかになってきたこと、その後、細かい民族属性ごとに分けたGWASが行われるようになってきたこと、などの研究の流れの概括を行った。また近年、Risk score計算などが多様な集団で必ずしも十全に機能しないことが広く言われる中で、民族バイアスを克服する方法論の議論が行われ、また、monogenic / polygenicという従来の疾患区分の妥当性が見直されつつあり、これまでmonogenicとされてきた疾患にも多様なバリアントの考慮が必要なことの認識が必要になってきた流れについても再確認を行った。 また、文献調査として、risk prediction、 polygenic risk score、 genetic risk score 、PRS、 GRSとELSIとの組み合わせによる検索などから、上述の研究の流れとの相関などを検討している。いくつかの文献等で報告されているようにGRSの返却事例は冠動脈疾患などで既に多数あり、これらの事例をもとにシナリオを抽出し、研究計画当初に検討したシナリオの補強に用いインタビューの準備を進めている。 今後は、これらの検討をもとに、現行の社会・制度における健診や診療の現場で疾患発症リスクを利活用することにおける多くの課題を抽出整理していく予定である。

  3. 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

    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.

  4. The Research Project on Regulation and Support Systems of Biomedical Research.

    Yonemura Shigeto, MUTO Kaori, OKUDA Junichiro, NAGAMI Fuji

    Offer Organization: Japan Society for the Promotion of Science

    System: Grants-in-Aid for Scientific Research

    Category: Grant-in-Aid for Scientific Research (A)

    2012/04/01 - 2017/03/31

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    The purpose of this research is to analyze fundamental theory of research regulation, to detect trend of research regulation in foreign countries, to investigate practical problems in research, and finally to propose a new legal system of biomedical research regulation. <BR> According to our analysis, we obtained the finding that the following points are important bases of the new research regulation system: (1) coexistence of guideline regulations and legal regulations in Japan is seriously harmful due to conflict with existing rules and inefficiency in ethical review of research, (2) it is necessary to respect freedom of research and to construct a neutral system of research review that is independent from public authority and expert group, (3) efficacy and practical feasibility should also be considered in designing a regulation system. We published a detailed plan of legislation in order to resolve most problems on research regulation and promote the development of biomedical research.