Pulse Brain · Growing Health Evidence Index
Tier 1 — Meta-analysis / systematic reviewPeer-reviewed

A cross-population atlas of genetic associations for 220 human phenotypes

Saori Sakaue, Masahiro Kanai, Yosuke Tanigawa, Juha Karjalainen, Mitja Kurki, S. Koshiba, Akira Narita, Takahiro Konuma, Kenichi Yamamoto, Masato Akiyama, Kazuyoshi Ishigaki, Akari Suzuki, Ken Suzuki, Wataru Obara, Ken Yamaji, Kazuhisa Takahashi, Satoshi Asai, Yasuo Takahashi, Takao Suzuki, Nobuaki Shinozaki, Hiroki Yamaguchi, Shiro Minami, Shigeo Murayama, Kozo Yoshimori, Satoshi Nagayama, Daisuke Obata, Masahiko Higashiyama, Akihide Masumoto, Yukihiro Koretsune, FinnGen, Kaoru Ito, Chikashi Terao, Toshimasa Yamauchi, Issei Komuro, Takashi Kadowaki, Gen Tamiya, Masayuki Yamamoto, Yusuke Nakamura, Michiaki Kubo, Yoshinori Murakami, Kazuhiko Yamamoto, Yoichiro Kamatani, Aarno Palotie, Manuel A. Rivas, Mark J. Daly, Koichi Matsuda, Yukinori Okada

Nature Genetics · 2021

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Summary

This 2021 Nature Genetics paper presents a large-scale cross-population genetic association atlas encompassing 220 human phenotypes, integrating data from diverse biobanks including FinnGen and Japanese cohorts. The work advances inclusive genomic research by substantially reducing historical over-representation of European ancestry in GWAS studies, providing evidence-based estimates of genetic effects on health traits across multiple ancestry groups. The atlas contributes to understanding phenotypic variation and disease susceptibility determinants whilst supporting more equitable translation of genomic discoveries.

UK applicability

The cross-population genetic findings may improve identification of disease susceptibility loci relevant to UK populations, particularly for underrepresented ancestry groups. However, clinical implementation requires validation in UK healthcare settings and integration with environmental and lifestyle factors specific to the British context.

Key measures

Genetic association statistics (P-values, effect sizes, odds ratios) for 220 phenotypes; allele frequency distributions across populations; cross-population genetic correlation matrices

Outcomes reported

The study identified and mapped genetic associations for 220 human phenotypes across multiple ancestry groups, integrating data from large biobanks including FinnGen and Japanese cohorts. The work quantifies genetic variant effects on health traits and disease susceptibility whilst accounting for population diversity.

Theme
Nutrition & health
Subject
Measurement methods & nutrient profiling
Study type
Research
Study design
Genome-wide association study (GWAS) meta-analysis
Source type
Peer-reviewed study
Status
Published
Geography
International
System type
Human clinical
DOI
10.1038/s41588-021-00931-x
Catalogue ID
SNmoi53hbn-bcsind

Topic tags

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