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

• Published in: Cell genomics 2023-12, Vol.3 (12), p.100436, Article 100436
• Main Authors: Chen, Chia-Yen, Chen, Tzu-Ting, Feng, Yen-Chen Anne, Yu, Mingrui, Lin, Shu-Chin, Longchamps, Ryan J., Wang, Shi-Heng, Hsu, Yi-Hsiang, Yang, Hwai-I., Kuo, Po-Hsiu, Daly, Mark J., Chen, Wei J., Huang, Hailiang, Ge, Tian, Lin, Yen-Feng
• Format: Article
• Language: English
• Subjects: cross-ancestry GWAS; multi-polygenic score prediction; quantitative traits; Taiwan Biobank
• ISSN: 2666-979X; 2666-979X
• DOI: 10.1016/j.xgen.2023.100436

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. [Display omitted] •The Taiwan Biobank (TWB) is a prospective study with health and multi-omics data•Genome-wide analysis in TWB for 36 quantitative traits identified 968 novel loci•Differences in genetic architecture were observed in TWB, Biobank Japan, and UK Biobank•Polygenic prediction for disease onset was enhanced by cross-population biomarker GWAS Chen, Chen, Feng, Yu, Lin, et al. reported findings from genome-wide analysis in 102,900 Taiwan Biobank (TWB) participants across 36 human quantitative traits. A total of 1,986 significant loci were identified, and comparative analyses with Biobank Japan, UK Biobank, and previous GWASs revealed 968 novel loci. We also showed the utility of cross-phenotype, cross-population polygenic risk scores in disease risk prediction. These results highlight the potential to advance gene discovery with diverse populations.