Genomics & Informatics

  • 제17권4호
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  • Pages.48.1-48.6
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  • 2019
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  • 1598-866X(pISSN)
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  • 2234-0742(eISSN)
한국유전체학회 (Korea Genome Organization)
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Recapitulation of previously reported associations for type 2 diabetes and metabolic traits in the 126K East Asians

  • Choi, Ji-Young (Division of Genome Research, Center for Genome Science, National Institute of Health, Osong Health Technology Administration Complex) ;
  • Jang, Hye-Mi (Division of Genome Research, Center for Genome Science, National Institute of Health, Osong Health Technology Administration Complex) ;
  • Han, Sohee (Division of Genome Research, Center for Genome Science, National Institute of Health, Osong Health Technology Administration Complex) ;
  • Hwang, Mi Yeong (Division of Genome Research, Center for Genome Science, National Institute of Health, Osong Health Technology Administration Complex) ;
  • Kim, Bong-Jo (Division of Genome Research, Center for Genome Science, National Institute of Health, Osong Health Technology Administration Complex) ;
  • Kim, Young Jin (Division of Genome Research, Center for Genome Science, National Institute of Health, Osong Health Technology Administration Complex)
  • 투고 : 2019.11.22
  • 심사 : 2019.12.20
  • 발행 : 2019.12.31
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초록

Over the last decade, genome-wide association studies (GWASs) have provided an unprecedented amount of genetic variations that are associated with various phenotypes. However, previous GWAS were mostly conducted in European populations, and these biased results for non-Europeans may result in a significant reduction in risk prediction for non-Europeans. An issue with the early GWAS was the winner's curse problem, which led to misleading results when constructing the polygenic risk scores (PRS). Therefore, more non-European population-based studies are needed to validate reported variants and improve genetic risk assessment across diverse populations. In this study, we validated 422 variants independently associated with glycemic indexes, liver enzymes, and type 2 diabetes in 125,872 samples from a Korean population, and further validated the results by assessing publicly available summary statistics from European GWAS (n = 898,130). Among the 422 independently associated variants, 284, 320, and 361 variants were replicated in Koreans, Europeans, and either one of the two populations. In addition, the effect sizes for Koreans and Europeans were moderately correlated (r = 0.33-0.68). However, 61 variants were not replicated in both Koreans and Europeans. Our findings provide valuable information on effect sizes and statistical significance, which is essential to improve the assessment of disease risk using PRS analysis.

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참고문헌

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