顔写真

ナガミ　フウジ
長神　風二
Fuji Nagami
所属
東北メディカル・メガバンク機構　広報・企画部門
職名
教授
学位

  • 博士（医学）（東北大学）

  • 修士（学術）（東京大学）

e-Rad 研究者番号
80501957
プロフィール

サイエンスコミュニケーター、科学広報、ゲノム医科学の倫理。
2002年から、日本科学未来館で、特別企画展「脳！－内なる不思議の世界へ」、大型映像「アースストーリー ～恐竜の進化とヒトの未来～」、「第18回世界宇宙飛行士会議」、トークイベントシリーズ「ライブトークScience Edge」などを企画・運営。2006年から、独立行政法人科学技術振興機構。科学技術コミュニケーション担当として、大型イベント「サイエンスアゴラ」を創設。2007年11月に2度目のサイエンスアゴラ（2007）を開催後、2008年1月、東北大学脳科学グローバルCOE特任准教授（広報担当）。2008年4月からは、大学院医学系研究科・医学部の広報室担当も兼務。2012年から東北メディカル・メガバンク機構、特任准教授。2013年から同特任教授。2021年、同教授。

新著「予定不調和―サイエンスがひらく、もう一つの世界」2010年4月15日刊行
http://www.amazon.co.jp/dp/4887597940/

所属学協会 7

  • 日本疫学会

    2020年10月 ～

  • 日本人類遺伝学会

    2020年9月 ～

  • 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

︎全件表示 ︎最初の5件までを表示

研究キーワード 12

  • ゲノム医科学

  • 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

研究分野 1

  • ライフサイエンス / 医療管理学、医療系社会学 /

論文 63

  1. The Health History of First-Degree Relatives’ Dyslipidemia Can Affect Preferences and Intentions following the Return of Genomic Results for Monogenic Familial Hypercholesterolemia 査読有り

    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年3月21日

    DOI： 10.3390/genes15030384 　

  2. 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年11月

    出版者・発行元：(NPO)日本乳癌検診学会

  3. Association Between Olfactory Test Data with Multiple Levels of Odor Intensity and Suspected Cognitive Impairment: A Cross-Sectional Study. 国際誌

    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年9月11日

    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.

  4. Tohoku Medical Megabank Brain Magnetic Resonance Imaging Study: Rationale, Design, and Background 査読有り

    JMA Journal　6　(3)　246-264　2023年7月

    出版者・発行元：None

    DOI： 10.31662/jmaj.2022-0220 　

    ISSN：2433-328X

    eISSN：2433-3298

  5. 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年6月6日

    出版者・発行元：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.

  6. 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年6月

    出版者・発行元：(一社)日本乳癌学会

  7. 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年2月

    出版者・発行元：(一社)日本疫学会

    ISSN：0917-5040

    eISSN：1349-9092

  8. A knowledge representation model for family relationship to three generation 査読有り

    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年12月31日

    出版者・発行元：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.

  9. Visualization of estimated prevalence of CES-D positivity accounting for background factors and AIS scores. 国際誌

    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年10月21日

    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.

  10. Reduced antiviral seropositivity among patients with inflammatory bowel disease treated with immunosuppressive agents. 国際誌

    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年10月12日

    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.

  11. 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年9月26日

    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.

  12. 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年4月15日

    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.

  13. Genome-wide Association Study of Axial Length in Population-based Cohorts in Japan: The Tohoku Medical Megabank Organization Eye Study. 国際誌

    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年3月

    出版者・発行元：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.

  14. 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年12月

    DOI： 10.1038/s41439-021-00175-5 　

    eISSN：2054-345X

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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.

  15. The return of individual genomic results to research participants: design and pilot study of Tohoku Medical Megabank Project. 国際誌

    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年7月8日

    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.

  16. 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年7月

    出版者・発行元：(一社)日本乳癌学会

  17. 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年7月

    出版者・発行元：(一社)日本乳癌学会

  18. 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年6月

    出版者・発行元：(一社)日本遺伝カウンセリング学会

    ISSN：1347-9628

  19. 【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年5月

    出版者・発行元：(株)羊土社

    ISSN：0288-5514

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    研究成果の情報発信は、研究機関や学術団体などにより多様に行われ、その重要性は広く認識されている。バイオバンクの構築・運用においてもこれらは積極的に行われるようになってきているが、一般的な研究成果の発信とは異なる特徴もある。本稿では、バイオバンクにおける成果発信について、目的・対象・内容について、事例も交えて紹介する。また、バイオバンクを運営する側のみならず、利用する側やバイオバンクに試料・情報を提供する側の視点も含め、わが国の現状から成果発信における今後の課題についても考察する。(著者抄録)

  20. Heart Rate Information-Based Machine Learning Prediction of Emotions Among Pregnant Women. 国際誌

    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年

    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.

  21. Machine learning for effectively avoiding overfitting is a crucial strategy for the genetic prediction of polygenic psychiatric phenotypes 査読有り

    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年12月

    出版者・発行元：Springer Science and Business Media LLC

    DOI： 10.1038/s41398-020-00957-5 　

    eISSN：2158-3188

  22. Improved metabolomic data-based prediction of depressive symptoms using nonlinear machine learning with feature selection 査読有り

    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年12月1日

    DOI： 10.1038/s41398-020-0831-9 　

    eISSN：2158-3188

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    © 2020, The Author(s). To solve major limitations in algorithms for the metabolite-based prediction of psychiatric phenotypes, a novel prediction model for depressive symptoms based on nonlinear feature selection machine learning, the Hilbert–Schmidt independence criterion least absolute shrinkage and selection operator (HSIC Lasso) algorithm, was developed and applied to a metabolomic dataset with the largest sample size to date. In total, 897 population-based subjects were recruited from the communities affected by the Great East Japan Earthquake; 306 metabolite features (37 metabolites identified by nuclear magnetic resonance measurements and 269 characterized metabolites based on the intensities from mass spectrometry) were utilized to build prediction models for depressive symptoms as evaluated by the Center for Epidemiologic Studies-Depression Scale (CES-D). The nested fivefold cross-validation was used for developing and evaluating the prediction models. The HSIC Lasso-based prediction model showed better predictive power than the other prediction models, including Lasso, support vector machine, partial least squares, random forest, and neural network. l-leucine, 3-hydroxyisobutyrate, and gamma-linolenyl carnitine frequently contributed to the prediction. We have demonstrated that the HSIC Lasso-based prediction model integrating nonlinear feature selection showed improved predictive power for depressive symptoms based on metabolome data as well as on risk metabolites based on nonlinear statistics in the Japanese population. Further studies should use HSIC Lasso-based prediction models with different ethnicities to investigate the generality of each risk metabolite for predicting depressive symptoms.

  23. 【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年9月

    出版者・発行元：(株)医学書院

    ISSN：0488-1281

    eISSN：1882-126X

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    ＜文献概要＞出生コホート研究(birth cohort study)とは,出生前の胎内環境までを含めた曝露を検討した追跡調査のことを言い,胎内環境がどのように出生後長期にわたり健康に影響を与えているかを明らかにするための研究方法である。東北メディカル・メガバンク計画では,東日本大震災後の宮城・岩手両県の住民の長期健康支援と次世代型医療構築を目標とした本格的ゲノムコホート研究を実施している。1つは20歳以上の地域住民を対象とした地域住民コホート調査であり,もう1つは妊婦およびパートナー,それぞれの両親,そしてその子をリクルートする三世代コホートである。後者のアドオンコホートとして,産後うつの克服と妊娠・出産・育児に伴う心の健康向上を目指すことを目的としたスマイリー・マミー・プログラムを実施している。今後これらのコホート研究から新たな知見が蓄積され,各個人のゲノム情報が規定する個体差を考慮した上での個別化予防や個別化医療の開発が望まれる。

  24. 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年6月

    出版者・発行元：(一社)日本遺伝カウンセリング学会

    ISSN：1347-9628

  25. 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年6月

    出版者・発行元：TOHOKU UNIV MEDICAL PRESS

    DOI： 10.1620/tjem.251.97 　

    ISSN：0040-8727

    eISSN：1349-3329

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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.

  26. 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年4月

    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.

  27. 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年3月

    出版者・発行元：(公社)日本薬学会

    ISSN：0918-9823

  28. A proposal on the first Japanese practical guidance for the return of individual genomic results in research settings. 査読有り

    Aizawa Y, Nagami F, Ohashi N, Kato K

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

    DOI： 10.1038/s10038-019-0697-y 　

    ISSN：1434-5161

    eISSN：1435-232X

  29. 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年12月1日

    出版者・発行元：None

    DOI： 10.1038/s41439-019-0057-7 　

    eISSN：2054-345X

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    © 2019, The Author(s). 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.

  30. Establishment of Integrated Biobank for Precision Medicine and Personalized Healthcare: The Tohoku Medical Megabank Project. 査読有り

    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年9月

    DOI： 10.31662/jmaj.2019-0014. 　

  31. Cohort Profile: Tohoku Medical Megabank Project Birth and Three-Generation Cohort Study (TMM BirThree Cohort Study): Rationale, Progress and Perspective. 国際誌 査読有り

    Kuriyama S, Metoki H, Kikuya M, Obara T, Ishikuro M, Yamanaka C, Nagai M, Matsubara H, Kobayashi T, Sugawara J, Tamiya G, Hozawa A, Nakaya N, Tsuchiya N, Nakamura T, Narita A, Kogure M, Hirata T, Tsuji I, Nagami F, Fuse N, Arai T, Kawaguchi Y, Higuchi S, Sakaida M, Suzuki Y, Osumi N, Nakayama K, Ito K, Egawa S, Chida K, Kodama E, Kiyomoto H, Ishii T, Tsuboi A, Tomita H, Taki Y, Kawame H, Suzuki K, Ishii N, Ogishima S, Mizuno S, Takai-Igarashi T, Minegishi N, Yasuda J, Igarashi K, Shimizu R, Nagasaki M, Tanabe O, Koshiba S, Hashizume H, Motohashi H, Tominaga T, Ito S, Tanno K, Sakata K, Shimizu A, Hitomi J, Sasaki M, Kinoshita K, Tanaka H, Kobayashi T, Kure S, Yaegashi N, Yamamoto M, Tohoku Medical Megabank Project, Study Group

    International journal of epidemiology　2019年8月25日

    DOI： 10.1093/ije/dyz169 　

    ISSN：0300-5771

  32. A training and education program for genome medical research coordinators in the genome cohort study of the Tohoku Medical Megabank Organization. 査読有り

    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年8月

    出版者・発行元：None

    DOI： 10.1186/s12909-019-1725-5 　

    ISSN：1472-6920

  33. 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年7月

    出版者・発行元：(一社)日本遺伝カウンセリング学会

    ISSN：1347-9628

  34. 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年7月

    出版者・発行元：(一社)日本遺伝カウンセリング学会

    ISSN：1347-9628

  35. 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年7月

    出版者・発行元：(一社)日本乳癌学会

  36. 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年6月

    出版者・発行元：(公社)日本精神神経学会

    ISSN：0033-2658

  37. 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年6月

    出版者・発行元：(公社)日本精神神経学会

    ISSN：0033-2658

  38. Prefabricated Temporary Housing and Eczema or Respiratory Symptoms in Schoolchildren after the Great East Japan Earthquake: The ToMMo Child Health Study. 国際誌 査読有り

    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年6月

    DOI： 10.1017/dmp.2019.8 　

    ISSN：1935-7893

  39. Genome analyses for the Tohoku Medical Megabank Project towards establishment of personalized healthcare. 査読有り

    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年2月

    出版者・発行元：None

    DOI： 10.1093/jb/mvy096 　

    ISSN：0021-924X

    eISSN：1756-2651

  40. 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年1月

  41. Strategic Methods for Recruiting Grandparents: The Tohoku Medical Megabank Birth and Three-Generation Cohort Study. 査読有り

    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年10月

    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.

  42. Severity of eczema and mental health problems in Japanese schoolchildren: The ToMMo Child Health Study. 国際誌 査読有り

    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年10月

    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.

  43. Evaluation of reported pathogenic variants and their frequencies in a Japanese population based on a whole-genome reference panel of 2049 individuals. 国際誌 査読有り

    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年2月

    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.

  44. ゲノム医療実用化に係る専門的知識・情報の新しい伝え方の開発と実践:ドラマ「知ること、知らないこと 一遺伝子を調べることで生じることとは？一」制作を通して

    小林 朋子, 加納 圭, 川上 雅弘, 長神 風二

    日本科学教育学会年会論文集　42　(0)　309-310　2018年

    出版者・発行元：一般社団法人 日本科学教育学会

    DOI： 10.14935/jssep.42.0_309 　

    ISSN：2186-3628

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    本研究は、ゲノム医療実用化に係る専門的知識・情報の新しい伝え方の開発と実践を目的として ドラマ「知ること、知らないこと -遺伝子を調べることで生じることとは？-」を制作し、視聴頂いた高校生や大学生を含む市民に知識習得度や感想を聴取するアンケート調査を実施した。その 結果、ストーリー中に主題として入れた内容に関しては、多様な背景をもつ市民にも理解できる ように伝えることができる一方、附随して伝えようとした内容については市民に理解できるように伝 えきれない可能性があることが明らかとなった。

  45. Security controls in an integrated Biobank to protect privacy in data sharing: rationale and study design 査読有り

    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年7月

    出版者・発行元：BIOMED CENTRAL LTD

    DOI： 10.1186/s12911-017-0494-5 　

    ISSN：1472-6947

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    Background: With the goal of realizing genome-based personalized healthcare, we have developed a biobank that integrates personal health, genome, and omics data along with biospecimens donated by volunteers of 150,000. Such a large-scale of data integration involves obvious risks of privacy violation. The research use of personal genome and health information is a topic of global discussion with regard to the protection of privacy while promoting scientific advancement. The present paper reports on our plans, current attempts, and accomplishments in addressing security problems involved in data sharing to ensure donor privacy while promoting scientific advancement. Methods: Biospecimens and data have been collected in prospective cohort studies with the comprehensive agreement. The sample size of 150,000 participants was required for multiple researches including genome-wide screening of gene by environment interactions, haplotype phasing, and parametric linkage analysis. Results: We established the Tohoku Medical Megabank (TMM) data sharing policy: a privacy protection rule that requires physical, personnel, and technological safeguards against privacy violation regarding the use and sharing of data. The proposed policy refers to that of NCBI and that of the Sanger Institute. The proposed policy classifies shared data according to the strength of re-identification risks. Local committees organized by TMM evaluate re-identification risk and assign a security category to a dataset. Every dataset is stored in an assigned segment of a supercomputer in accordance with its security category. A security manager should be designated to handle all security problems at individual data use locations. The proposed policy requires closed networks and IP-VPN remote connections. Conclusion: The mission of the biobank is to distribute biological resources most productively. This mission motivated us to collect biospecimens and health data and simultaneously analyze genome/omics data in-house. The biobank also has the mission of improving the quality and quantity of the contents of the biobank. This motivated us to request users to share the results of their research as feedback to the biobank. The TMM data sharing policy has tackled every security problem originating with the missions. We believe our current implementation to be the best way to protect privacy in data sharing.

  46. 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年5月

    出版者・発行元：日本遺伝カウンセリング学会

    ISSN：1347-9628

  47. 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年5月

    出版者・発行元：日本遺伝カウンセリング学会

    ISSN：1347-9628

  48. Monitoring of minimal residual disease in early T-cell precursor acute lymphoblastic leukaemia by next-generation sequencing 査読有り

    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年1月

    出版者・発行元：WILEY-BLACKWELL

    DOI： 10.1111/bjh.13948 　

    ISSN：0007-1048

    eISSN：1365-2141

  49. The Tohoku Medical Megabank Project: Design and Mission 査読有り

    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年9月

    出版者・発行元：ELSEVIER SCIENCE INC

    DOI： 10.2188/jea.JE20150268 　

    ISSN：0917-5040

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    The Great East Japan Earthquake (GEJE) and resulting tsunami of March 11, 2011 gave rise to devastating damage on the Pacific coast of the Tohoku region. The Tohoku Medical Megabank Project (TMM), which is being conducted by Tohoku University Tohoku Medical Megabank Organization (ToMMo) and Iwate Medical University Iwate Tohoku Medical Megabank Organization (IMM), has been launched to realize creative reconstruction and to solve medical problems in the aftermath of this disaster. We started two prospective cohort studies in Miyagi and Iwate Prefectures: a population-based adult cohort study, the TMM Community-Based Cohort Study (TMM CommCohort Study), which will recruit 80 000 participants, and a birth and three-generation cohort study, the TMM Birth and Three-Generation Cohort Study (TMM BirThree Cohort Study), which will recruit 70 000 participants, including fetuses and their parents, siblings, grandparents, and extended family members. The TMM CommCohort Study will recruit participants from 2013 to 2016 and follow them for at least 5 years. The TMM BirThree Cohort Study will recruit participants from 2013 to 2017 and follow them for at least 4 years. For children, the ToMMo Child Health Study, which adopted a cross-sectional design, was also started in November 2012 in Miyagi Prefecture. An integrated biobank will be constructed based on the two prospective cohort studies, and ToMMo and IMM will investigate the chronic medical impacts of the GEJE. The integrated biobank of TMM consists of health and clinical information, biospecimens, and genome and omics data. The biobank aims to establish a firm basis for personalized healthcare and medicine, mainly for diseases aggravated by the GEJE in the two prefectures. Biospecimens and related information in the biobank will be distributed to the research community. TMM itself will also undertake genomic and omics research. The aims of the genomic studies are: 1) to construct an integrated biobank; 2) to return genomic research results to the participants of the cohort studies, which will lead to the implementation of personalized healthcare and medicine in the affected areas in the near future; and 3) to contribute the development of personalized healthcare and medicine worldwide. Through the activities of TMM, we will clarify how to approach prolonged healthcare problems in areas damaged by large-scale disasters and how useful genomic information is for disease prevention.

  50. 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年8月

    出版者・発行元：日本遺伝看護学会

    ISSN：1881-3267

  51. Public Attitudes toward an Epidemiological Study with Genomic Analysis in the Great East Japan Earthquake Disaster Area 査読有り

    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年6月

    出版者・発行元：CAMBRIDGE UNIV PRESS

    DOI： 10.1017/S1049023X16000182 　

    ISSN：1049-023X

    eISSN：1945-1938

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    Introduction: The Great East Japan Earthquake of March 11, 2011 may have influenced the long-term health of those in the disaster area. It is important to collect current and future health information of the people living in the post-disaster area to provide appropriate health support and quality-oriented care. However, public perceptions of health and genomic studies in the Great East Japan Earthquake disaster area are still unknown. Methods: A questionnaire survey was conducted in one town affected by the Great East Japan Earthquake and subsequent tsunami. The results of the questionnaire were tailed and the differences in responses to each question were assessed by sex and age. Results: In 284 eligible people (137 men, 147 women), almost all participants agreed to join a health survey investigating the adverse effects of the disaster, and over 80% of the total participants agreed to genomic analysis. Over 70% of the participants wanted to receive pharmacogenetic testing and to receive feedback on which medications were suitable or unsuitable for them. Conclusions: Most people living in the disaster area are interested in health surveys. Most of the participants also showed interest in genomic analysis.

  52. Eczema and Asthma Symptoms among Schoolchildren in Coastal and Inland Areas after the 2011 Great East Japan Earthquake: The ToMMo Child Health Study 査読有り

    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年12月

    出版者・発行元：TOHOKU UNIV MEDICAL PRESS

    DOI： 10.1620/tjem.237.297 　

    ISSN：0040-8727

    eISSN：1349-3329

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    After the Great East Japan Earthquake of 2011, there has been a concern about health problems among children. Therefore, we investigated the prevalence of wheeze and eczema symptoms and associated factors among children in areas primarily affected by the disaster. From 2012 to 2014, we distributed the parent-administered questionnaire to 25,198 children in all 233 public schools in the 13 municipalities of Miyagi Prefecture in northeast Japan. A total of 7,155 responses (mean age 10.5 +/- 2.2 years) were received (response rate: 28.4%). The prevalence of allergic symptoms according to the International Study of Asthma and Allergies in Childhood (ISAAC) questionnaire in 2nd, 4th, 6th, and 8th graders was 12.4%, 9.9%, 9.3%, and 5.6% for wheeze, and 20.1%, 18.0%, 14.0%, and 12.4% for eczema. In multivariate logistic analysis, younger age, history of hospitalization, and difficulties in children's daily lives as assessed by the Strengths and Difficulties Questionnaire (SDQ), were significantly and consistently associated with both allergic symptoms (both P &lt; 0.05). Living in a coastal municipality was also associated with eczema symptoms (P = 0.0278). The prevalence of eczema symptoms in the 2nd (20.1%) and 8th (12.4%) grades was significantly higher than previously reported in Japan. Living in a coastal municipality was independently associated with eczema symptoms, and psychometric properties were also closely linked to allergic symptoms. These findings are clinically important for understanding the risks of allergic disorders after natural disasters.

  53. 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年8月21日

    DOI： 10.1038/ncomms9018 　

    eISSN：2041-1723

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    The Tohoku Medical Megabank Organization reports the whole-genome sequences of 1,070 healthy Japanese individuals and construction of a Japanese population reference panel (1KJPN). Here we identify through this high-coverage sequencing (32.4 × on average), 21.2 million, including 12 million novel, single-nucleotide variants (SNVs) at an estimated false discovery rate of <1.0%. This detailed analysis detected signatures for purifying selection on regulatory elements as well as coding regions. We also catalogue structural variants, including 3.4 million insertions and deletions, and 25,923 genic copy-number variants. The 1KJPN was effective for imputing genotypes of the Japanese population genome wide. These data demonstrate the value of high-coverage sequencing for constructing population-specific variant panels, which covers 99.0% SNVs of minor allele frequency ≥0.1%, and its value for identifying causal rare variants of complex human disease phenotypes in genetic association studies.

  54. Protocol and Research Perspectives of the ToMMo Child Health Study after the 2011 Great East Japan Earthquake 査読有り

    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年6月

    出版者・発行元：TOHOKU UNIV MEDICAL PRESS

    DOI： 10.1620/tjem.236.123 　

    ISSN：0040-8727

    eISSN：1349-3329

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    Residents of areas affected by the Great East Japan Earthquake may suffer from diseases or health problems. We are conducting a cross-sectional study from 2012 to 2015 to investigate and address the health needs of schoolchildren affected by this disaster. In this paper, we describe the protocol and research perspectives of our long-term child health study, and present the results obtained immediately after the disaster. The parent-administered questionnaire includes the International Study of Asthma and Allergies in Childhood questionnaire for asthma and eczema symptoms, the Strengths and Difficulties Questionnaire (SDQ), and a questionnaire on influenza infection and vaccination status. In 2012, we distributed the questionnaire to 3,505 (2nd, 4th, 6th, and 8th graders) in three municipalities located in southern coastal area among the 28 municipalities, and 1,277 (36.4%) returned the completed questionnaire. Mean age was 11.1 +/- 2.2 years old. The number of children with symptoms of wheeze and eczema in the past 12 months was 146 (11.4%) and 199 (15.6%), respectively. The SDQ total difficulties score revealed 174 (13.6%) children with some form of difficulty in their daily lives. From May 2011 to April 2012, 195 (15.3%) and 649 (50.8%) children received the influenza vaccination once and twice, respectively, and 532 (41.7%) had suffered from influenza. The prevalence of eczema symptoms or some form of difficulty was higher than the Japanese average. However, careful interpretation was required because of potential self-selection bias from the low response rate. We will continue this study of schoolchildren to provide aggregate findings.

  55. 知はデモクラシーのために サイエンスコミュニケーターが思う図書館のこと

    長神 風二

    情報管理　53　(6)　348-351　2010年

    出版者・発行元：国立研究開発法人 科学技術振興機構

    DOI： 10.1241/johokanri.53.348 　

    ISSN：0021-7298

  56. 生命科学のコミュニケーションから見た科学研究情報流通 BMB2008におけるフォーラムから 査読有り

    長神風二

    情報管理　52　(2)　77-85　2009年5月

    出版者・発行元：国立研究開発法人 科学技術振興機構

    DOI： 10.1241/johokanri.52.77 　

    ISSN：0021-7298 1347-1597

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    筆者らは生命科学系最大規模の学会において，科学研究情報の流通に関するフォーラムを開催した。フォーラムは集客も多くなく必ずしも成功裡に終わったとは言い難いが，いくつかの成果を上げることができた。シリアルズクライシス，機関リポジトリ，オープンアクセスなど，生命科学研究者にとっては耳にする機会の少ない概念を提示し，科学と社会をつなぐコミュニケーションを考えるうえでも，あるいは，研究を発展させていくうえでも情報流通が重要であることを示した。また，社会とのコミュニケーションの視点を軸に，科学研究情報の流通を考えると，研究者が公表した研究成果をセルフアーカイブすることの重要性，またそれを推進するための組織的・資金的な支援の必要性，大型研究機関における機関リポジトリの必要性や，ファンディングエージェンシーのより重要な役割が浮かび上がってきた。現状の問題点を一つ一つ解決していく提案を行い，研究と社会にとってより良い研究情報の流通のあり方を考えていく。

  57. 相互交流と情報交換の場の創生によるサイエンスコミュニケーションの活性化 : サイエンスアゴラ2006から2007，2008へ 査読有り

    長神風二, 谷村優太

    科学技術コミュニケーション　(5)　3-18　2009年

    出版者・発行元：北海道大学科学技術コミュニケーター養成ユニット

    ISSN：1881-8390

    詳細を見る 詳細を閉じる

    Science Agora is one of the largest domestic science communication events, and it was originally designed to contribute to the entire science communication activities in Japan. From the viewpoint of the organizers of the event, we examined the last three annual events. Science Agora started in 2006, participants are increasing year after year, and various groups and organizations make presentations every year. Science Agora owes its prosperous development to the progress of science communication activities themselves in Japan, and meanwhile, consecutive holdings of the events contribute to the activities all over Japan. Science Agora should play a more important role as a commodity fair for science communication, by facilitating the interactions between various groups and organizations involving science communication.

  58. サイエンスコミュニケーションと 図書館 査読有り

    長神風二

    情報管理　51　(5)　321-333　2008年8月

    出版者・発行元：国立研究開発法人 科学技術振興機構

    DOI： 10.1241/johokanri.51.321 　

    ISSN：0021-7298 1347-1597

    詳細を見る 詳細を閉じる

    サイエンスコミュニケーションの重要性は2000年頃から日本で盛んに叫ばれ始め，関連人材養成のための大型プロジェクトが開始され，多くの取り組みが各地でなされるなど，急速な進展を見せている。図書館は，古くから，人々に学術情報を提供してきた場であり，サイエンスコミュニケーション活動とは無縁ではないが，近年の動きの中で大きな位置を占めてきたとは言い難い。本稿では，これまでに各地の図書館が行ってきたサイエンスコミュニケーション活動を，具体例を取り上げながら概観する。その上で，場としての図書館がサイエンスコミュニケーションにおいて果たしえる役割を議論し，科学技術の側から見た図書館の有用性を論じる。また，人々の科学技術に対する要望や要求を形にして学術の側に伝え，学術の側が伝えたいことを市民に伝える，双方向性をもった場として図書館が機能しえることを論じる。<br>

  59. サイエンスにおけるより大きなつながりに向けて～サイエンスアゴラ2006 実施総括～ 査読有り

    長神風二

    科学技術コミュニケーション　(1)　14-24　2007年

    出版者・発行元：北海道大学科学技術コミュニケーター養成ユニット

    ISSN：1881-8390

    詳細を見る 詳細を閉じる

    "Science Agora 2006" the first integrated event for science communications in Japan was held on 25-27th November 2006. In the event, 86 associations or groups held their own session, 104 sessions and posters were shown, and more than 1500 people participated. The event was aimed for" infrastructure development" for the advancements of science communications in Japan. Three purposes of" agoras" were designed; the dialogues between society and science, that between the various science sectors, and that amongst science communicators. In this report, I describe how these purposes were reflected to the process of program planning and how these were realized or not. The network amongst science communicators in Japan were reinforced by the event, and some trials for the corporation between various science sectors were started by the event. Also some outreach events for general public made a good success in Science Agora 2006. Each success was independently accomplished, but Science Agora has the potential to be the place for the active interaction between the different purposes. In future, the multiple network, from government, researchers to general public, should be constructed based on Science Agora, and it will contribute to the sustainable development of science in society.

  60. ヨーロッパにおける科学のネットワーク : ESOF2006参加報告 査読有り

    長神風二

    科学技術コミュニケーション　(2)　77-87　2007年

  61. Time-lapse imaging of conformational changes in supercoiled DNA by scanning force microscopy 査読有り

    F Nagami, G Zuccheri, B Samori, R Kuroda

    ANALYTICAL BIOCHEMISTRY　300　(2)　170-176　2002年1月

    出版者・発行元：ACADEMIC PRESS INC ELSEVIER SCIENCE

    DOI： 10.1006/abio.2001.5435 　

    ISSN：0003-2697

    詳細を見る 詳細を閉じる

    Most of the scanning force microscopy (SFM) images of supercoiled DNA on untreated mica thus far reported have not shown tight plectonemic structure seen by electron microscopy, but instead less coiled molecules and sometimes a partly "condensed" state with intimate chain-chain interactions, By observing time-lapse images of conformational changes of DNA induced by decreasing ionic strength of imaging buffer in solution SFM, we could show that the process of water rinsing, an indispensable step for preparation of dried samples, may be responsible for some of the conformational anomalies in the images previously reported. We have studied several protocols to observe supercoiled DNA molecules by SFM and discuss the merits and the demerits. Images obtained following uranyl acetate treatment may be ideal for the detection of DNA damage, as the supercoiled and nicked forms are easily distinguishable. (C) 2001 Elsevier Science.

  62. Imaging of plectonemic supercoiled DNA with the scanning force microscope 査読有り

    G Zuccheri, F Nagami, R Kuroda, B Samori

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

    出版者・発行元：RINTON PRESS, INC

  63. AFM characterization of single strand-specific endonuclease activity on linear DNA 査読有り

    Umemura Kazuo, Nagami Fuji, Okada Takao, Kuroda Reiko

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

    DOI： 10.1093/nar/28.9.e39 　

︎全件表示 ︎最初の5件までを表示

MISC 17

  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年

  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年

  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年

  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年

  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年

  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年7月

    出版者・発行元：(一社)日本乳癌学会

  7. ゲノム医療実用化に係る専門的知識・情報の新しい伝え方の開発と実践:ドラマ「知ること,知らないこと」普及活動を通して

    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年

  8. 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年

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

    Fuji Nagami, Hiroaki Tomita

    EUROPEAN NEUROPSYCHOPHARMACOLOGY　27　S122-S123　2017年10月

    出版者・発行元：ELSEVIER SCIENCE BV

    ISSN：0924-977X

    eISSN：1873-7862

  10. 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 招待有り

    長神風二

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

  11. 「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年5月

    ISSN：1347-9628

  12. 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年5月

    出版者・発行元：日本遺伝カウンセリング学会

    ISSN：1347-9628

  13. 「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年

  14. 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年6月25日

    ISSN：0285-3299

  15. サイエンスコミュニケーションと図書館, そして大震災

    長神 風二, 池城 かおり

    情報の科学と技術 = The journal of Information Science and Technology Association　61　(6)　238-243　2011年6月1日

    出版者・発行元：社団法人情報科学技術協会

    ISSN：0913-3801

    詳細を見る 詳細を閉じる

    科学研究を,その進展の過程から社会と共有することを目指すサイエンスコミュニケーションと,知の蓄積と流通を担う図書館の活動との間には,共通点も多い。本稿では,まず,図書館やサイエンスコミュニケーションについて考えてきた筆者が,2011年3月11日の東日本大震災を直接的に経験することで得た知見を体験談として記す。非常時に,生命と直結する情報をどう扱っていくかは,双方の専門家にとって重い課題である。図書館とサイエンスコミュニケーションの相互の専門性を協創的に用いることで,学術的な研究成果の発表システムの刷新など,新規の学術の可能性を拓く可能性があることを示唆する。

  16. 社会との接点と相互理解 : 主に, 次世代育成の視点から

    長神 風二

    日本機械学會誌 = Journal of the Society of Mechanical Engineers　114　(1107)　90-93　2011年2月5日

    出版者・発行元：一般社団法人日本機械学会

    ISSN：0021-4728

  17. 大学・研究所が社会に向けてできること : 研究・教育機関による社会との相互理解

    長神 風二

    日本機械学會誌 = Journal of the Society of Mechanical Engineers　114　(1107)　110-111　2011年2月5日

    出版者・発行元：一般社団法人日本機械学会

    ISSN：0021-4728

︎全件表示 ︎最初の5件までを表示

書籍等出版物 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年4月

    ISBN: 4887597940

    詳細を見る 詳細を閉じる

    「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。

講演・口頭発表等 3

  1. Genetic counseling at the return of individual genomic results from genome cohort study 国際会議

    相澤弥生, 長神風二, 川目裕

    Genome ELSI Kyoto 2017：International Symposium on Genomics and Society　2017年11月14日

  2. Tohoku Medical Megabank Project; Its ethical aspects 国際会議

    長神風二

    Genome ELSI Kyoto 2017：International Symposium on Genomics and Society　2017年11月14日

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

    長神風二

    Genome ELSI Kyoto 2017：International Symposium on Genomics and Society　2017年11月14日

共同研究・競争的資金等の研究課題 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

    2022年4月1日 ～ 2025年3月31日

  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

    2021年4月1日 ～ 2024年3月31日

    詳細を見る 詳細を閉じる

    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. 研究におけるゲノム解析情報を医療等に活かすための課題の検討

    長神 風二, 荻島 創一

    提供機関：Japan Society for the Promotion of Science

    制度名：Grants-in-Aid for Scientific Research

    研究種目：Grant-in-Aid for Scientific Research (C)

    研究機関：Tohoku University

    2015年4月1日 ～ 2019年3月31日

    詳細を見る 詳細を閉じる

    調査から我が国の主要なコホート調査・バイオバンクでは、ゲノム解析情報を調査対象者本人に対して返却する仕組みはほとんどないことを明らかにした上で、研究における遺伝情報解析の結果を医療機関に提供するにあたっての枠組みについても検討した。我が国では、本人への結果返却後に医療機関へつなぐプロトコルは試行的に行われているが、静岡・島根・沖縄等で行われている先進的な取り組みにおいても、医療機関側からの情報を研究利用する一方向的な情報の流れを形成していることが明らかになった。米国の取組についての調査からも、精度管理等、臨床相当の品質を確保した上で全体の枠組みを定義していくことの重要性が浮き彫りになった。

  4. 生命科学研究の規制と支援の法制度に関する包括的研究

    米村 滋人, 水野 紀子, 森崎 隆幸, 谷内 一彦, 久保野 恵美子, 辰井 聡子, 樺島 博志, 蘆立 順美, 西本 健太郎, 石綿 はる美, 猪瀬 貴道, 磯部 哲, 町野 朔, 武藤 香織, 奥田 純一郎, 長神 風二

    提供機関：Japan Society for the Promotion of Science

    制度名：Grants-in-Aid for Scientific Research

    研究種目：Grant-in-Aid for Scientific Research (A)

    2012年4月1日 ～ 2017年3月31日

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    本研究は、医学・法学にまたがる多分野横断的な研究手法により、研究規制の基礎理論、諸外国の研究規制動向、国内の研究実態の課題を調査し、将来に向けた生命科学研究規制の制度設計に関する提言を行うことを目的とした。 本研究の調査・検討を通じて、研究規制の制度設計に関し、①わが国の指針規制と法律規制の併存状況は、既存法令との衝突や研究審査の非効率化による弊害が大きく、包括法による規制が必要であること、②学問の自由の制約限界や規制の効率性に配慮した立法が必要であること、③研究の内容規制にわたる場合は公権力・専門家集団から独立した中立的機関による手続が保障されるべきことが導かれ、その旨の提言を公表した。