Analysis across Taiwan Biobank, Biobank Japan and UK Biobank identifies hundreds of novel loci for 36 quantitative traits

2021 
Genome-wide association studies (GWAS) have identified tens of thousands of genetic loci associated with human complex traits and diseases1,2. However, the majority of GWAS were conducted in individuals of European ancestry3. Failure to capture global genetic diversity has limited biological discovery and impeded equitable delivery of genomic knowledge to diverse populations4. Here we report findings from 102,900 individuals across 36 human quantitative traits in the Taiwan Biobank (TWB), a major biobank effort that broadens the population diversity of genetic studies in East Asia (EAS). We identified 979 novel genetic loci, pinpointed novel causal variants through fine-mapping, compared the genetic architecture across TWB, Biobank Japan (BBJ)5-7 and UK Biobank (UKBB)8,9, and demonstrated the utility of cross-phenotype, cross-population polygenic risk scores (PRS) in disease risk prediction. We release all GWAS summary statistics, fine-mapping results, and single nucleotide polymorphism (SNP) weights and TWB-based PRS reference distributions for polygenic prediction (link to appear upon publication) to facilitate within-EAS and cross-population genetic research.
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