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

Nature genetics, 2020-07, Vol.52 (7), p.669-679 [Peer Reviewed Journal]

COPYRIGHT 2020 Nature Publishing Group ;Copyright Nature Publishing Group Jul 2020 ;ISSN: 1061-4036 ;EISSN: 1546-1718 ;DOI: 10.1038/s41588-020-0640-3 ;PMID: 32514122

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Title:
Large-scale genome-wide association study in a Japanese population identifies novel susceptibility loci across different diseases
Author: Ishigaki, Kazuyoshi ; Akiyama, Masato ; Kanai, Masahiro ; Takahashi, Atsushi ; Kawakami, Eiryo ; Sugishita, Hiroki ; Sakaue, Saori ; Matoba, Nana ; Low, Siew-Kee ; Okada, Yukinori ; Terao, Chikashi ; Amariuta, Tiffany ; Gazal, Steven ; Kochi, Yuta ; Horikoshi, Momoko ; Suzuki, Ken ; Ito, Kaoru ; Koyama, Satoshi ; Ozaki, Kouichi ; Niida, Shumpei ; Sakata, Yasushi ; Sakata, Yasuhiko ; Kohno, Takashi ; Shiraishi, Kouya ; Momozawa, Yukihide ; Hirata, Makoto ; Matsuda, Koichi ; Ikeda, Masashi ; Iwata, Nakao ; Ikegawa, Shiro ; Kou, Ikuyo ; Tanaka, Toshihiro ; Nakagawa, Hidewaki ; Suzuki, Akari ; Hirota, Tomomitsu ; Tamari, Mayumi ; Chayama, Kazuaki ; Miki, Daiki ; Mori, Masaki ; Nagayama, Satoshi ; Daigo, Yataro ; Miki, Yoshio ; Katagiri, Toyomasa ; Ogawa, Osamu ; Obara, Wataru ; Ito, Hidemi ; Yoshida, Teruhiko ; Imoto, Issei ; Takahashi, Takashi ; Tanikawa, Chizu ; Suzuki, Takao ; Sinozaki, Nobuaki ; Minami, Shiro ; Yamaguchi, Hiroki ; Asai, Satoshi ; Takahashi, Yasuo ; Yamaji, Ken ; Takahashi, Kazuhisa ; Fujioka, Tomoaki ; Takata, Ryo ; Yanai, Hideki ; Masumoto, Akihide ; Koretsune, Yukihiro ; Kutsumi, Hiromu ; Higashiyama, Masahiko ; Murayama, Shigeo ; Minegishi, Naoko ; Suzuki, Kichiya ; Tanno, Kozo ; Shimizu, Atsushi ; Yamaji, Taiki ; Iwasaki, Motoki ; Sawada, Norie ; Uemura, Hirokazu ; Tanaka, Keitaro ; Naito, Mariko ; Sasaki, Makoto ; Wakai, Kenji ; Tsugane, Shoichiro ; Yamamoto, Masayuki ; Yamamoto, Kazuhiko ; Murakami, Yoshinori ; Nakamura, Yusuke ; Raychaudhuri, Soumya ; Inazawa, Johji ; Yamauchi, Toshimasa ; Kadowaki, Takashi ; Kubo, Michiaki ; Kamatani, Yoichiro
Subjects: Analysis ; Cardiovascular disease ; Cohort Studies ; Coronary heart disease ; Development and progression ; Diabetes ; Diabetes mellitus ; Diabetes mellitus (non-insulin dependent) ; Diagnosis ; Disease susceptibility ; Female ; Females ; Gender differences ; Gene frequency ; Genetic Predisposition to Disease - ethnology ; Genetic research ; Genetic transcription ; Genetic Variation ; Genome-wide association studies ; Genome-Wide Association Study ; Genomes ; Genomics ; Humans ; Inheritance Patterns ; Japan ; Lung cancer ; Male ; Phenotypes ; Population ; Population genetics ; Population studies ; Populations ; Precision medicine ; Prostate cancer ; Sex Factors ; Studies ; Transcription Factors - genetics ; Type 2 diabetes ; X chromosomes
Is Part Of: Nature genetics, 2020-07, Vol.52 (7), p.669-679
Description: The overwhelming majority of participants in current genetic studies are of European ancestry. To elucidate disease biology in the East Asian population, we conducted a genome-wide association study (GWAS) with 212,453 Japanese individuals across 42 diseases. We detected 320 independent signals in 276 loci for 27 diseases, with 25 novel loci (P < 9.58 × 10 ). East Asian-specific missense variants were identified as candidate causal variants for three novel loci, and we successfully replicated two of them by analyzing independent Japanese cohorts; p.R220W of ATG16L2 (associated with coronary artery disease) and p.V326A of POT1 (associated with lung cancer). We further investigated enrichment of heritability within 2,868 annotations of genome-wide transcription factor occupancy, and identified 378 significant enrichments across nine diseases (false discovery rate < 0.05) (for example, NKX3-1 for prostate cancer). This large-scale GWAS in a Japanese population provides insights into the etiology of complex diseases and highlights the importance of performing GWAS in non-European populations.
Publisher: United States: Nature Publishing Group
Language: English
Identifier: ISSN: 1061-4036
EISSN: 1546-1718
DOI: 10.1038/s41588-020-0640-3
PMID: 32514122
Source: Freely Accessible Journals
AUTh Library subscriptions: ProQuest Central
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Large-scale genome-wide association study in a Japanese population identifies novel susceptibility loci across different diseases

COPYRIGHT 2020 Nature Publishing Group ;Copyright Nature Publishing Group Jul 2020 ;ISSN: 1061-4036 ;EISSN: 1546-1718 ;DOI: 10.1038/s41588-020-0640-3 ;PMID: 32514122

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