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

Author

Listed:
  • Yon Ho Jee

    (Harvard T.H. Chan School of Public Health)

  • Ying Wang

    (Massachusetts General Hospital
    Broad Institute of MIT and Harvard)

  • Keum Ji Jung

    (Yonsei University)

  • Ji-Young Lee

    (Yonsei University)

  • Heejin Kimm

    (Yonsei University)

  • Rui Duan

    (Harvard T.H. Chan School of Public Health)

  • Alkes L. Price

    (Harvard T.H. Chan School of Public Health
    Harvard T.H. Chan School of Public Health
    Broad Institute of MIT and Harvard)

  • Alicia R. Martin

    (Massachusetts General Hospital
    Broad Institute of MIT and Harvard
    Harvard Medical School)

  • Peter Kraft

    (Harvard T.H. Chan School of Public Health
    National Institutes of Health)

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.

Suggested Citation

  • Yon Ho Jee & Ying Wang & Keum Ji Jung & Ji-Young Lee & Heejin Kimm & Rui Duan & Alkes L. Price & Alicia R. Martin & Peter Kraft, 2025. "Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures," Nature Communications, Nature, vol. 16(1), pages 1-13, December.
    • Handle: RePEc:nat:natcom:v:16:y:2025:i:1:d:10.1038_s41467-025-59950-5
    DOI: 10.1038/s41467-025-59950-5
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