Meta-analysis of over one million East Asian individuals maps genetic architecture of 127 complex traits

A large-scale preprint posted to bioRxiv describes what the authors describe as the largest phenome-wide meta-analysis yet conducted in East Asian (EAS) populations, drawing on genome-wide association study (GWAS) data from biobanks in Japan, Korea, Taiwan, and China. The combined dataset encompasses more than one million individuals phenotyped across 127 complex traits spanning cardiometabolic, anthropometric, and other domains.

The analysis identified 8,010 genetic associations not previously reported in any population, and found substantial genetic sharing across the four EAS subpopulations studied, while also detecting cohort-specific heterogeneity at a subset of loci. The authors note that GWAS have historically been concentrated in populations of European ancestry, limiting the generalisability of polygenic risk scores and the completeness of the global map of common genetic variation.

By characterising genetic architecture at this scale within EAS populations, the resource is intended to improve polygenic score transferability and to facilitate cross-ancestry comparisons that can identify variants with broad versus population-specific effects. The paper has not yet undergone peer review.

This is a preprint posted to bioRxiv and has not been peer-reviewed. Findings should be interpreted with appropriate caution until formal peer review is complete.