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Recapitulation of previously reported associations for type 2 diabetes and metabolic traits in the..
  • 작성일2020-08-07
  • 최종수정일2020-08-07
  • 담당부서연구기획과
  • 연락처043-719-8033
  • 806

Genomics & Informatics, 2019. 17(4), e48-, DOI: https://doi.org/10.5808/GI.2019.17.4.e48


Recapitulation of previously reported associations for type 2 diabetes and metabolic traits in the 126K East Asians

Ji-Young Choi, Hye-Mi Jang;Sohee Han;Mi-Yeong Hwang;Bong-Jo Kim;Young Jin Kim


Abstract

    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.



  • 본 연구는 질병관리본부 연구개발과제연구비를 지원받아 수행되었습니다.
  • This research was supported by a fund by Research of Korea Centers for Disease Control and Prevention.


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