Genetics
Korean GWAS of 72,298 people finds a CETP variant significant for dyslipidaemia overall and a second one only in men (Lipids Health Dis 2022)
Original title: Sex-related differences in single nucleotide polymorphisms associated with dyslipidemia in a Korean population
A genome-wide association study genotyped 72,298 Korean participants across 7,079,946 SNPs to identify variants associated with dyslipidaemia, adjusting for sex, age and BMI, with discovery and replication stages. Across the whole cohort, five SNPs reached significance: rs117026536 (LPL), rs651821 and rs9804646 (both APOA5), rs9926440 (CETP) and rs429358 (APOE). In male-only analysis, four SNPs were significant, including rs662799 (APOA5) and rs56156922 (CETP), which were significant only in men, while rs9804646 (APOA5) and rs429358 (APOE) remained significant across all subjects. Female-only analysis found two significant SNPs, both in APOA5. Described as the first study to identify sex-related genetic differences in dyslipidaemia in a Korean population, including a CETP variant with an apparently sex-specific effect that has yet to be explained by environmental variables.
Original abstract
Background: The prevalence of dyslipidemia has increased steadily in Korea, and the incidence of dyslipidemia differs by sex. In this study, we identified single nucleotide polymorphisms (SNPs) related to dyslipidemia in Korean cohorts through genome-wide association study (GWAS) analysis.
Methods: Genotyping was conducted to determine the genotypes of 72,298 participants and investigate genotypes for 7,079,946 SNPs. Sex, age, and BMI were set as covariates for GWAS, and significant SNPs were identified in the discovery and replication stages using logistic regression.
Results: GWAS of the entire cohort revealed a total of five significant SNPs: rs117026536 (LPL), rs651821 (APOA5), rs9804646 (APOA5), rs9926440 (CETP), and rs429358 (APOE). GWAS of the male subjects revealed a total of four significant SNPs. While rs9804646 (APOA5) and rs429358 (APOE) were significant for all the subjects, rs662799 (APOA5) and rs56156922 (CETP) were significant only for the male subjects. GWAS of the female subjects revealed two significant SNPs, rs651821 (APOA5) and rs9804646 (APOA5), both of which were significant in all the subjects.
Conclusion: This is the first study to identify sex-related differences in genetic polymorphisms in Korean populations with dyslipidemia. Further studies considering environmental variables will be needed to elucidate these sex-related genetic differences in dyslipidemia.
Summary written by cetpinhibition.org from the published abstract; figures as published. Page updated 18 August 2026. Methods.