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Genome-wide association study of metabolic syndrome in Korean populations

Seung‐Won Oh, Jong Eun Lee, Eun‐Soon Shin, Hyuktae Kwon, Eun Kyung Choe, Su‐Yeon Choi, Su‐Yeon Choi, Hwanseok Rhee, Seung Ho Choi, Seung Ho Choi

2020PLoS ONE77 citationsDOIOpen Access PDF

Abstract

Metabolic syndrome (MetS) which is caused by obesity and insulin resistance, is well known for its predictive capability for the risk of type 2 diabetes mellitus and cardiovascular disease. The development of MetS is associated with multiple genetic factors, environmental factors and lifestyle. We performed a genome-wide association study to identify single-nucleotide polymorphism (SNP) related to MetS in large Korean population based samples of 1,362 subjects with MetS and 6,061 controls using the Axiom® Korean Biobank Array 1.0. We replicated the data in another sample including 502 subjects with MetS and 1,751 controls. After adjusting for age and sex, rs662799 located in the APOA5 gene were significantly associated with MetS. 15 SNPs in GCKR, C2orf16, APOA5, ZPR1, and BUD13 were associated with high triglyceride (TG). 14 SNPs in APOA5, ALDH1A2, LIPC, HERPUD1, and CETP, and 2 SNPs in MTNR1B were associated with low high density lipoprotein cholesterol (HDL-C) and high fasting blood glucose respectively. Among these SNPs, 6 TG SNPs: rs1260326, rs1260333, rs1919127, rs964184, rs2075295 and rs1558861 and 11 HDL-C SNPs: rs4775041, rs10468017, rs1800588, rs72786786, rs173539, rs247616, rs247617, rs3764261, rs4783961, rs708272, and rs7499892 were first discovered in Koreans. Additional research is needed to confirm these 17 novel SNPs in Korean population.

Topics & Concepts

Single-nucleotide polymorphismMetabolic syndromeSNPGeneticsBiologyInsulin resistancePopulationGenetic associationGenome-wide association studyInternal medicineObesityBioinformaticsMedicineGeneGenotypeEnvironmental healthGenetic Associations and EpidemiologyLiver Disease Diagnosis and TreatmentPeroxisome Proliferator-Activated Receptors
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