Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures

Nat Commun. 2025 May 28;16(1):4935. doi: 10.1038/s41467-025-59950-5.

Abstract

Genome-wide association studies (GWAS) have predominantly focused on European ancestry populations, limiting biological discoveries across diverse populations. Here we report GWAS findings from 153,950 individuals across 36 quantitative traits in the Korean Cancer Prevention Study-II (KCPS2) Biobank. We discovered 301 previously unreported genetic loci in KCPS2, including an association between thyroid-stimulating hormone and CD36. Meta-analysis with the Korean Genome and Epidemiology Study, Biobank Japan, Taiwan Biobank, and UK Biobank identified 4588 loci that were not significant in any contributing GWAS. We describe differences in genetic architectures across these East Asian and European samples. We also highlight East Asian specific associations, including a known pleiotropic missense variant in ALDH2, which fine-mapping identified as a likely causal variant for multiple traits. Our findings provide insights into the genetic architecture of complex traits in East Asian populations and highlight how broadening the population diversity of GWAS samples can aid discovery.

Publication types

  • Meta-Analysis

MeSH terms

  • Aldehyde Dehydrogenase, Mitochondrial / genetics
  • Cohort Studies
  • East Asian People* / genetics
  • Female
  • Genetic Predisposition to Disease
  • Genome-Wide Association Study*
  • Humans
  • Male
  • Polymorphism, Single Nucleotide
  • Quantitative Trait Loci* / genetics
  • Republic of Korea
  • White People / genetics

Substances

  • Aldehyde Dehydrogenase, Mitochondrial
  • ALDH2 protein, human

Supplementary concepts

  • Korean people