期刊
NATURE GENETICS
卷 52, 期 7, 页码 669-+出版社
NATURE PORTFOLIO
DOI: 10.1038/s41588-020-0640-3
关键词
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资金
- Tailor-Made Medical Treatment Program (BBJ) of the Ministry of Education, Culture, Sports, Science and Technology (MEXT)
- Japan Agency for Medical Research and Development (AMED) [JP17km0305002, JP17km0305001]
- JST KAKENHI [18H02932]
- Research Program on Hepatitis from AMED [JP19fk0310109, JP19fk0210020]
- MEXT-JST
- AMED [JP19km0105001, JP19km0105002, JP19km0105003, JP19km0105004, JP18kk0205009, JP20dk0207045, JP19ek0210081, JP16ck0106096, JP20dm0107097, JP20km0405201, JP20km0405208]
- National Cancer Center Research and Development Fund since 2011 [29-A-4]
- Ministry of Health, Labour and Welfare of Japan
- Japan Society for the Promotion of Science KAKENHI grants (CoBiA) from MEXT
- National Cancer Center Research and Development Fund (NCC Biobank)
- Ministry of Health, Labour and Welfare program [H29-Gantaisaku-Ippann-025]
- Japan Society for the Promotion of Science KAKENHI grants from MEXT [16H06277]
- [17015018]
- [221S0001]
- MRC [MR/R013926/1] Funding Source: UKRI
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 x 10(-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 < 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. Genome-wide analysis in 212,453 Japanese individuals identifies loci associated with 42 diseases. Comparative analysis with European populations identifies East Asian-specific associations.
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