文献

J-GLOBAL ID：202002288514969392   整理番号：20A1702834

日本人集団:日本人集団を対象にした大規模ゲノムワイド関連解析による複数疾患の新規感受性座位同定

Large-scale genome-wide association study in a Japanese population identifies novel susceptibility loci across different diseases

著者 (120件)： ISHIGAKI Kazuyoshi (Lab. for Statistical Analysis, RIKEN Center for Integrative Medical Sci., Yokohama, JPN) ,  AKIYAMA Masato (Lab. for Statistical Analysis, RIKEN Center for Integrative Medical Sci., Yokohama, JPN) ,  KANAI Masahiro (Lab. for Statistical Analysis, RIKEN Center for Integrative Medical Sci., Yokohama, JPN) ,  TAKAHASHI Atsushi (Lab. for Statistical Analysis, RIKEN Center for Integrative Medical Sci., Yokohama, JPN) ,  SAKAUE Saori (Lab. for Statistical Analysis, RIKEN Center for Integrative Medical Sci., Yokohama, JPN) ,  MATOBA Nana (Lab. for Statistical Analysis, RIKEN Center for Integrative Medical Sci., Yokohama, JPN) ,  LOW Siew-Kee (Lab. for Statistical Analysis, RIKEN Center for Integrative Medical Sci., Yokohama, JPN) ,  OKADA Yukinori (Lab. for Statistical Analysis, RIKEN Center for Integrative Medical Sci., Yokohama, JPN) ,  SUZUKI Ken (Lab. for Statistical Analysis, RIKEN Center for Integrative Medical Sci., Yokohama, JPN) ,  KAMATANI Yoichiro (Lab. for Statistical Analysis, RIKEN Center for Integrative Medical Sci., Yokohama, JPN) ,  ISHIGAKI Kazuyoshi (Center for Data Sci., Harvard Medical School, Boston, MA, USA) ,  AMARIUTA Tiffany (Center for Data Sci., Harvard Medical School, Boston, MA, USA) ,  RAYCHAUDHURI Soumya (Center for Data Sci., Harvard Medical School, Boston, MA, USA) ,  ISHIGAKI Kazuyoshi (Div.s of Genetics and Rheumatology, Dep. of Medicine, Brigham and Women’s Hospital, Harvard Medical School, Boston, MA, USA) ,  AMARIUTA Tiffany (Div.s of Genetics and Rheumatology, Dep. of Medicine, Brigham and Women’s Hospital, Harvard Medical School, Boston, MA, USA) ,  RAYCHAUDHURI Soumya (Div.s of Genetics and Rheumatology, Dep. of Medicine, Brigham and Women’s Hospital, Harvard Medical School, Boston, MA, USA) ,  ISHIGAKI Kazuyoshi (Program in Medical and Population Genetics, Broad Inst. of MIT and Harvard, Cambridge, MA, USA) ,  KANAI Masahiro (Program in Medical and Population Genetics, Broad Inst. of MIT and Harvard, Cambridge, MA, USA) ,  AMARIUTA Tiffany (Program in Medical and Population Genetics, Broad Inst. of MIT and Harvard, Cambridge, MA, USA) ,  GAZAL Steven (Program in Medical and Population Genetics, Broad Inst. of MIT and Harvard, Cambridge, MA, USA) ,  RAYCHAUDHURI Soumya (Program in Medical and Population Genetics, Broad Inst. of MIT and Harvard, Cambridge, MA, USA) ,  AKIYAMA Masato (Dep. of Ophthalmology, Graduate School of Medical Sci., Kyushu Univ., Fukuoka, JPN) ,  KANAI Masahiro (Dep. of Biomedical Informatics, Harvard Medical School, Boston, MA, USA) ,  AMARIUTA Tiffany (Dep. of Biomedical Informatics, Harvard Medical School, Boston, MA, USA) ,  RAYCHAUDHURI Soumya (Dep. of Biomedical Informatics, Harvard Medical School, Boston, MA, USA) ,  TAKAHASHI Atsushi (Dep. of Genomic Medicine, Res. Inst., National Cerebral and Cardiovascular Center, Osaka, JPN) ,  KAWAKAMI Eiryo (Medical Sci. Innovation Hub Program (MIH), RIKEN, Yokohama, JPN) ,  KAWAKAMI Eiryo (Lab. for Developmental Genetics, RIKEN Center for Integrative Medical Sci., Yokohama, JPN) ,  SUGISHITA Hiroki (Lab. for Developmental Genetics, RIKEN Center for Integrative Medical Sci., Yokohama, JPN) ,  KAWAKAMI Eiryo (Artificial Intelligence Medicine, Graduate School of Medicine, Chiba Univ., Chiba, JPN) ,  SAKAUE Saori (Dep. of Statistical Genetics, Osaka Univ. Graduate School of Medicine, Osaka, JPN) ,  OKADA Yukinori (Dep. of Statistical Genetics, Osaka Univ. Graduate School of Medicine, Osaka, JPN) ,  SUZUKI Ken (Dep. of Statistical Genetics, Osaka Univ. Graduate School of Medicine, Osaka, JPN) ,  SAKAUE Saori (Dep. of Allergy and Rheumatology, Graduate School of Medicine, Univ. Tokyo, Tokyo, JPN) ,  MATOBA Nana (Dep. of Genetics and UNC Neuroscience Center, Univ. North Carolina at Chapel Hill, Chapel Hill, NC, USA) ,  LOW Siew-Kee (Cancer Precision Medicine Center, Japanese Foundation for Cancer Res., Tokyo, JPN) ,  OKADA Yukinori (Lab. of Statistical Immunology, WPI Immunology Frontier Res. Center, Osaka Univ., Osaka, JPN) ,  OKADA Yukinori (Integrated Frontier Res. for Medical Sci. Div., Inst. for Open and Transdisciplinary Res. Initiatives, Osaka Univ., Osaka, JPN) ,  TERAO Chikashi (Lab. for Statistical and Translational Genetics, RIKEN Center for Integrative Medical Sci., Yokohama, JPN) ,  AMARIUTA Tiffany (Graduate School of Arts and Sci., Harvard Univ., Cambridge, MA, USA) ,  GAZAL Steven (Dep. of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA, USA) ,  KOCHI Yuta (Lab. for Autoimmune Diseases, RIKEN Center for Integrative Medical Sci., Yokohama, JPN) ,  SUZUKI Akari (Lab. for Autoimmune Diseases, RIKEN Center for Integrative Medical Sci., Yokohama, JPN) ,  YAMAMOTO Kazuhiko (Lab. for Autoimmune Diseases, RIKEN Center for Integrative Medical Sci., Yokohama, JPN) ,  KOCHI Yuta (Dep. of Genomic Function and Diversity, Medical Res. Inst., Tokyo Medical and Dental Univ., Tokyo, JPN) ,  HORIKOSHI Momoko (Lab. for Genomics of Diabetes and Metabolism, RIKEN Center for Integrative Medical Sci., Yokohama, JPN) ,  SUZUKI Ken (Lab. for Genomics of Diabetes and Metabolism, RIKEN Center for Integrative Medical Sci., Yokohama, JPN) ,  SUZUKI Ken (Dep. of Diabetes and Metabolic Diseases, Graduate School of Medicine, Univ. Tokyo, Tokyo, JPN) ,  YAMAUCHI Toshimasa (Dep. of Diabetes and Metabolic Diseases, Graduate School of Medicine, Univ. Tokyo, Tokyo, JPN) ,  KADOWAKI Takashi (Dep. of Diabetes and Metabolic Diseases, Graduate School of Medicine, Univ. Tokyo, Tokyo, JPN) ,  ITO Kaoru (Lab. for Cardiovascular Genomics and Informatics, RIKEN Center for Integrative Medical Sci., Yokohama, JPN) ,  KOYAMA Satoshi (Lab. for Cardiovascular Genomics and Informatics, RIKEN Center for Integrative Medical Sci., Yokohama, JPN) ,  OZAKI Kouichi (Medical Genome Center, National Center for Geriatrics and Gerontology, Obu, JPN) ,  NIIDA Shumpei (Medical Genome Center, National Center for Geriatrics and Gerontology, Obu, JPN) ,  SAKATA Yasushi (Dep. of Cardiovascular Medicine, Osaka Univ. Graduate School of Medicine, Osaka, JPN) ,  SAKATA Yasuhiko (Dep. of Cardiovascular Medicine, Tohoku Univ. Graduate School of Medicine, Tohoku, JPN) ,  KOHNO Takashi (Div. of Genome Biology, National Cancer Center Res. Inst., Tokyo, JPN) ,  SHIRAISHI Kouya (Div. of Genome Biology, National Cancer Center Res. Inst., Tokyo, JPN) ,  MOMOZAWA Yukihide (Lab. for Genotyping Dev., RIKEN Center for Integrative Medical Sci., Yokohama, JPN) ,  HIRATA Makoto (Inst. of Medical Sci., Univ. Tokyo, Tokyo, JPN) ,  MATSUDA Koichi (Graduate School of Frontier Sci., Univ. Tokyo, Tokyo, JPN) ,  IKEDA Masashi (Dep. of Psychiatry, Fujita Health Univ. School of Medicine, Aichi, JPN) ,  IWATA Nakao (Dep. of Psychiatry, Fujita Health Univ. School of Medicine, Aichi, JPN) ,  IKEGAWA Shiro (Lab. for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sci., Tokyo, JPN) ,  KOU Ikuyo (Lab. for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sci., Tokyo, JPN) ,  TANAKA Toshihiro (Lab. for Cardiovascular Diseases, RIKEN Center for Integrative Medical Sci., Yokohama, JPN) ,  TANAKA Toshihiro (Dep. of Human Genetics and Disease Diversity, Graduate School of Medical and Dental Sci., Tokyo Medical and Dental Univ., Tokyo, JPN) ,  NAKAGAWA Hidewaki (Lab. for Genome Sequencing Analysis, RIKEN Center for Integrative Medical Sci., Tokyo, JPN) ,  HIROTA Tomomitsu (Lab. for Respiratory and Allergic Diseases, RIKEN Center for Integrative Medical Sci., Yokohama, JPN) ,  TAMARI Mayumi (Lab. for Respiratory and Allergic Diseases, RIKEN Center for Integrative Medical Sci., Yokohama, JPN) ,  CHAYAMA Kazuaki (Dep. of Gastroenterology and Metabolism, Graduate School of Biomedical and Health Sci., Hiroshima Univ., Hiroshima, JPN) ,  MIKI Daiki (Dep. of Gastroenterology and Metabolism, Graduate School of Biomedical and Health Sci., Hiroshima Univ., Hiroshima, JPN) ,  MORI Masaki (Dep. of Surgery and Sci., Graduate School of Medicine, Kyushu Univ., Fukuoka, JPN) ,  NAGAYAMA Satoshi (Dep. of Gastroenterological Surgery, Cancer Inst. Hospital of the Japanese Foundation for Cancer Res., Tokyo, JPN) ,  DAIGO Yataro (Dep. of Medical Oncology and Cancer Center, and Center for Advanced Medicine against Cancer, Shiga Univ. Medical Sci., Shiga, JPN) ,  DAIGO Yataro (Center for Antibody and Vaccine Therapy, Res. Hospital, Inst. of Medical Sci., Univ. Tokyo, Tokyo, JPN) ,  MIKI Yoshio (Dep. of Genetic Diagnosis, Cancer Inst., Japanese Foundation for Cancer Res., Tokyo, JPN) ,  KATAGIRI Toyomasa (Div. of Genome Medicine, Inst. for Genome Res., Tokushima Univ., Tokushima, JPN) ,  OGAWA Osamu (Dep. of Urology, Kyoto Univ. Graduate School of Medicine, Kyoto, JPN) ,  OBARA Wataru (Dep. of Urology, Iwate Medical Univ. School of Medicine, Iwate, JPN) ,  FUJIOKA Tomoaki (Dep. of Urology, Iwate Medical Univ. School of Medicine, Iwate, JPN) ,  TAKATA Ryo (Dep. of Urology, Iwate Medical Univ. School of Medicine, Iwate, JPN) ,  ITO Hidemi (Div. of Cancer Information and Control, Aichi Cancer Center Res. Inst., Nagoya, JPN) ,  ITO Hidemi (Div. of Descriptive Cancer Epidemiology, Nagoya Univ. Graduate School of Medicine, Nagoya, JPN) ,  YOSHIDA Teruhiko (Div. of Genetics, National Cancer Center Res. Inst., Tokyo, JPN) ,  IMOTO Issei (Div. of Molecular Genetics, Aichi Cancer Center Res. Inst., Nagoya, JPN) ,  IMOTO Issei (Risk Assessment Center, Aichi Caner Center Hospital, Nagoya, JPN) ,  IMOTO Issei (Div. of Cancer Genetics, Nagoya Univ. Graduate School of Medicine, Nagoya, JPN) ,  TAKAHASHI Takashi (Aichi Cancer Center, Nagoya, JPN) ,  Chizu Tanikawa (Lab. of Genome Technol., Human Genome Center, Inst. of Medical Sci., Univ. Tokyo, Tokyo, JPN) ,  Takao Suzuki (Tokushukai Group, Tok,yo, JPN) ,  SINOZAKI Nobuaki (Tokushukai Group, Tok,yo, JPN) ,  MINAMI Shiro (Dep. of Bioregulation, Nippon Medical School, Kawasaki, JPN) ,  YAMAGUCHI Hiroki (Dep. of Hematology, Nippon Medical School, Tokyo, JPN) ,  ASAI Satoshi (Div. of Pharmacology, Dep. of Biomedical Sci., Nihon Univ. School of Medicine, Tokyo, JPN) ,  ASAI Satoshi (Div. of Genomic Epidemiology and Clinical Trials, Clinical Trials Res. Center, Nihon Univ. School of Medicine, Tokyo, JPN) ,  TAKAHASHI Yasuo (Div. of Genomic Epidemiology and Clinical Trials, Clinical Trials Res. Center, Nihon Univ. School of Medicine, Tokyo, JPN) ,  YAMAJI Ken (Dep. of Internal Medicine and Rheumatology, Juntendo Univ. Graduate School of Medicine, Tokyo, JPN) ,  TAKAHASHI Kazuhisa ,  YANAI Hideki ,  MASUMOTO Akihide ,  KORETSUNE Yukihiro ,  KUTSUMI Hiromu ,  HIGASHIYAMA Masahiko ,  MURAYAMA Shigeo ,  MINEGISHI Naoko ,  SUZUKI Kichiya ,  YAMAMOTO Masayuki ,  TANNO Kozo ,  SHIMIZU Atsushi ,  SASAKI Makoto ,  YAMAJI Taiki ,  IWASAKI Motoki ,  SAWADA Norie ,  UEMURA Hirokazu ,  UEMURA Hirokazu ,  TANAKA Keitaro ,  NAITO Mariko ,  WAKAI Kenji ,  NAITO Mariko
資料名： Nature Genetics  (Nature Genetics)
巻： 52  号： 7  ページ： 669-679  発行年： 2020年07月 
JST資料番号： W0430A  ISSN： 1061-4036  資料種別： 逐次刊行物 (A)
記事区分： 原著論文  発行国： アメリカ合衆国 (USA)  言語： 英語 (EN)

抄録/ポイント： 現在行われている遺伝研究の参加者は,ヨーロッパ系の集団が圧倒的に多い。東アジア人集団の疾患生物学を究明するために,本研究では21万2453人の日本人を対象として,42の疾患についてゲノムワイド関連解析(GWAS)を実施した。27疾患について276座位で320の独立したシグナルが検出され,うち25座位は新規座位であった(P<9.58×10^-9)。3つの新規座位では原因バリアント候補として東アジア人集団に特異的なミスセンスバリアントが同定され,そのうちの2つ,ATG16L2のp.R220W(冠動脈疾患に関連),およびPOT1のp.V326A(肺がんに関連)については,独立した日本人コホートにおける再現解析でも有意な関連が確認された。さらに,我々はゲノム全域にわたる2868個の転写因子結合部位データについて遺伝率のエンリッチメント解析を行い,9つの疾患について378の有意なエンリッチメント(偽発見率<0.05)が検出され,例えば,前立腺がんにおけるNKX3-1の重要な役割が示唆された。日本人集団を対象としたこの大規模なGWASは,複雑疾患の病因に関する知見をもたらすとともに,非ヨーロッパ系の集団でGWASを実施することの重要性を強調している。Copyright Nature Japan KK 2020

シソーラス用語： 感受性 ,  *ゲノム ,  東アジア ,  ヨーロッパ ,  冠動脈疾患 ,  *座位 ,  母集団 ,  遺伝率 ,  肺腫瘍 ,  前立腺腫瘍 ,  病因 ,  *ゲノムワイド関連解析 ,  遺伝学研究 ,  日本人 ,  転写因子結合部位 ,  遺伝 ,  集団遺伝

分類 (1件)： 遺伝的変異  (EC01030Y)

タイトルに関連する用語 (8件)： 日本人 ,  集団 ,  大規模 ,  ゲノムワイド関連解析 ,  疾患 ,  感受性 ,  座位 ,  同定