Genetics
Korean GWAS discovers six novel CETP SNPs associated with low HDL cholesterol (PLoS One 2020)
Original title: Genome-wide association study of metabolic syndrome in Korean populations
This genome-wide association study identified single-nucleotide polymorphisms (SNPs) related to metabolic syndrome (MetS) in large Korean population samples, using 1362 subjects with MetS and 6061 controls for discovery, replicated in 502 subjects with MetS and 1751 controls. After adjusting for age and sex, rs662799 in APOA5 was significantly associated with MetS, 15 SNPs in GCKR, C2orf16, APOA5, ZPR1, and BUD13 were associated with high triglycerides, and 14 SNPs in APOA5, ALDH1A2, LIPC, HERPUD1, and CETP were associated with low HDL-cholesterol. Among these, 11 HDL-cholesterol SNPs, including six in CETP (rs247616, rs247617, rs3764261, rs4783961, rs708272, and rs7499892), were reported as novel discoveries first identified in a Korean population, warranting further confirmatory research.
Original 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.
Summary written by cetpinhibition.org from the published abstract; figures as published. Page updated 19 August 2026. Methods.