2023/11/16 by Chia‐Yen Chen, Tzu‐Ting Chen, Yen‐Chen Anne Feng +12 · 1 voice · 1 citation
Biochemistry, Genetics and Molecular Biology · #Epigenetics and DNA Methylation #Genetic Associations and Epidemiology #Genetic Mapping and Diversity in Plants and Animals
paper · doi:10.1016/j.xgen.2023.100436
openalex publication_date 2023/11/16 · openalex created_date 2025/10/10 · openalex updated_date 2026/08/02
Genome-wide association studies (GWASs) have identified tens of thousands of genetic loci associated with human complex traits. However, the majority of GWASs were conducted in individuals of European ancestries. Failure to capture global genetic diversity has limited genomic discovery and has impeded equitable delivery of genomic knowledge to diverse populations. 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. We identified 968 novel genetic loci, pinpointed novel causal variants through statistical fine-mapping, compared the genetic architecture across TWB, Biobank Japan, and UK Biobank, and evaluated the utility of cross-phenotype, cross-population polygenic risk scores in disease risk prediction. These results demonstrated the potential to advance discovery through diversifying GWAS populations and provided insights into the common genetic basis of human complex traits in East Asia.