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Exome chip-driven association study of lipidemia in >14,000 Koreans and evaluation of genetic ...
  • 작성일2020-02-04
  • 최종수정일2020-02-04
  • 담당부서연구기획과
  • 연락처043-719-8033
  • 908

Genetic Epidemiology, 2019. 43(6), 617-628, DOI: https://doi.org/10.1002/gepi.22208


Exome chip-driven association study of lipidemia in >14,000 Koreans and evaluation of genetic effect on identified variants between different ethnic groups.

Sohee Han, Mi Yeong Hwang; Kyungheon Yoon; Yun Kyoung Kim; Young Jin Kim; Bong-Jo Kim; Sanghoon Moon


Abstract

    Lipid levels in blood are widely used to diagnose and monitor chronic diseases. It is essential to identify the genetic traits involved in lipid metabolism for understanding chronic diseases. However, the influence of genetic traits varies depending on race, sex, age, and ethnicity. Therefore, research focusing on populations of individual countries is required, and the results can be used as a basis for comparison of results of other studies at the cross‐racial and crosscountry levels. In the present study, we selected lipid‐related variants and evaluated their effects on lipid‐related diseases in more than 14,000 subjects of three cohorts using the Illumina Human Exome Beadchip. A genome‐wide association study was conducted using EPACTs after adjusting for age, sex, and recruitment area. A genome‐wide significance cutoff was defined as p<5E−08 in all the three cohorts. Sixteen variants represented the lipid traits and were classified as vulnerable to borderline hypertriglyceridemia, hyper‐LDL cholesterolemia, or hypo‐HDL‐cholesterolemia. Moreover, we compared the genetic effects of the 16 variants between ethnic groups and identified the missense variants in apolipoprotein A‐V, cholesterol ester transfer protein, and apolipoprotein E as Asian‐specific. Our study provides candidate genes as markers for chronic diseases through the evaluation of genetic effects.



  • 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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