Pulse Brain · Growing Health Evidence Index
Tier 3 — Observational / field trialPeer-reviewed

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

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

Nature Genetics · 2020

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Summary

This large-scale GWAS leveraged extensive genomic data from a Japanese population to identify novel susceptibility loci associated with multiple disease phenotypes, published in Nature Genetics in 2020. The work characterises population-specific genetic architecture and contributes to understanding how disease risk variants may differ across ethnic groups, with potential implications for precision medicine. As a population-level genetic study, the findings may inform future research into gene–environment interactions relevant to dietary and lifestyle factors, though direct links to farming systems or nutrient density are indirect.

UK applicability

Findings from a Japanese population GWAS may have limited direct applicability to UK populations, as genetic architecture and allele frequencies often differ substantially between ethnic groups. However, the methodological approach and identification of novel loci could inform comparative studies in UK biobanks and contribute to understanding universal versus population-specific disease mechanisms.

Key measures

Genome-wide significant associations; effect sizes; novel susceptibility loci; disease-specific genetic variants; allele frequencies in Japanese population

Outcomes reported

The study identified novel genetic susceptibility loci across multiple disease phenotypes in a large Japanese population cohort. The findings characterise population-specific genetic architecture and disease risk variants that may differ from European populations.

Theme
Nutrition & health
Subject
Other / interdisciplinary
Study type
Research
Study design
Genome-wide association study (GWAS)
Source type
Peer-reviewed study
Status
Published
Geography
Japan
System type
Human clinical
DOI
10.1038/s41588-020-0640-3
Catalogue ID
BFmokjns9j-3kd3z4

Topic tags

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