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

Abstract

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 evaluated the utility of cross-phenotype, cross-population polygenic risk scores (PRS) in disease risk prediction. These results demonstrated the potential to advance genomic discovery through increasing and diversifying GWAS populations, and provided insights into the common genetic background for human complex traits in East Asian populations.