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KMID : 1143420200130463293
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Public Health Weekly Report
2020 Volume.13 No. 46 p.3293 ~ p.3302
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Characteristics of Type 2 Diabetes Genetic Factors for Korean and European Populations
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Jang Hye-Mi
Kim Young-Jin
Kim Bong-Jo
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Abstract
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Diabetes is caused by a complex interaction of environmental and genetic factors with an estimated heritability of 40%. With the rapidly growing volume of genotype data and the increasing number of genome-wide meta-analyses comprising hundreds of thousands of samples, numerous variants associated with type 2 diabetes (T2D) have been identified. However, since the majority of the loci were identified in individuals of European descent there is a lack of genome-wide association studies (GWAS) conducted in populations with East Asian ancestry. This Euro-centric bias caused a significant reduction in disease prediction accuracy when applied to non-Europeans. For genomic information based precision medicine in the Korean population, it is essential to validate the genetic effect of reported variants in the Korean population. In this context, this study examined the genetic effects of 1,162 established variants associated with T2D, fasting plasma glucose, and lipid traits in 125,872 samples of the Korean population. These variants were also validated in Europeans (up to 0.9 million samples). As a result, 702 variants were validated (P ≤ 0.05) in the Korean population and 87% of 1,162 variants were validated in either of Korean or European populations. The genetic effects between Koreans and Europeans were mostly similar yet some variants showed population specific genetic effects. Taken together, T2D associated variants discovered from diverse populations should be continuously validated in the Korean population. These validated variants will be valuable scientific evidence for upcoming future precision medicine in the Korean population.
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KEYWORD
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Diabetes, Genome research, Genome-wide association studies, Genetic variant, Genetic effect
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