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Exome chip‐driven association study of lipidemia in >14,000 Koreans and evaluation of genetic effect on identified variants between different ethnic groups
Author(s) -
Han Sohee,
Hwang Mi Yeong,
Yoon Kyungheon,
Kim Yun Kyoung,
Kim YoungJin,
Kim BongJo,
Moon Sanghoon
Publication year - 2019
Publication title -
genetic epidemiology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.301
H-Index - 98
eISSN - 1098-2272
pISSN - 0741-0395
DOI - 10.1002/gepi.22208
Subject(s) - exome , biology , genetic association , genetics , apolipoprotein b , genome wide association study , hypertriglyceridemia , missense mutation , 1000 genomes project , exome sequencing , bioinformatics , genotype , gene , cholesterol , single nucleotide polymorphism , endocrinology , mutation , triglyceride
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 cross‐country 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.