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

ABSTRACT: 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). 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?

SUBMITTER: Ishigaki K 

PROVIDER: S-EPMC7968075 | biostudies-literature | 2020 Jul

REPOSITORIES: biostudies-literature

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

Ishigaki Kazuyoshi K   Akiyama Masato M   Kanai Masahiro M   Takahashi Atsushi A   Kawakami Eiryo E   Sugishita Hiroki H   Sakaue Saori S   Matoba Nana N   Low Siew-Kee SK   Okada Yukinori Y   Terao Chikashi C   Amariuta Tiffany T   Gazal Steven S   Kochi Yuta Y   Horikoshi Momoko M   Suzuki Ken K   Ito Kaoru K   Koyama Satoshi S   Ozaki Kouichi K   Niida Shumpei S   Sakata Yasushi Y   Sakata Yasuhiko Y   Kohno Takashi T   Shiraishi Kouya K   Momozawa Yukihide Y   Hirata Makoto M   Matsuda Koichi K   Ikeda Masashi M   Iwata Nakao N   Ikegawa Shiro S   Kou Ikuyo I   Tanaka Toshihiro T   Nakagawa Hidewaki H   Suzuki Akari A   Hirota Tomomitsu T   Tamari Mayumi M   Chayama Kazuaki K   Miki Daiki D   Mori Masaki M   Nagayama Satoshi S   Daigo Yataro Y   Miki Yoshio Y   Katagiri Toyomasa T   Ogawa Osamu O   Obara Wataru W   Ito Hidemi H   Yoshida Teruhiko T   Imoto Issei I   Takahashi Takashi T   Tanikawa Chizu C   Suzuki Takao T   Sinozaki Nobuaki N   Minami Shiro S   Yamaguchi Hiroki H   Asai Satoshi S   Takahashi Yasuo Y   Yamaji Ken K   Takahashi Kazuhisa K   Fujioka Tomoaki T   Takata Ryo R   Yanai Hideki H   Masumoto Akihide A   Koretsune Yukihiro Y   Kutsumi Hiromu H   Higashiyama Masahiko M   Murayama Shigeo S   Minegishi Naoko N   Suzuki Kichiya K   Tanno Kozo K   Shimizu Atsushi A   Yamaji Taiki T   Iwasaki Motoki M   Sawada Norie N   Uemura Hirokazu H   Tanaka Keitaro K   Naito Mariko M   Sasaki Makoto M   Wakai Kenji K   Tsugane Shoichiro S   Yamamoto Masayuki M   Yamamoto Kazuhiko K   Murakami Yoshinori Y   Nakamura Yusuke Y   Raychaudhuri Soumya S   Inazawa Johji J   Yamauchi Toshimasa T   Kadowaki Takashi T   Kubo Michiaki M   Kamatani Yoichiro Y  

Nature genetics 20200608 7

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<sup>-9</sup>). East Asian-specific missense variants were identified as candidate causal variants for three novel loci, and we successfully r  ...[more]

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