A Promoter Polymorphism (Rs57137919) of ABCG1 Gene Influence on Blood Lipoprotein in Chinese Han Population.

ABSTRACT

BACKGROUND: Adenosine triphosphate-binding cassette subfamily G member 1 (ABCG1) has the function of transporting free intracellular cholesterol to extracellular high-density lipoprotein (HDL) particles, which play a crucial role in atherosclerosis. The goal of this study is to examine the relationship between the polymorphisms of the ABCG1 gene promoter region and ischemic stroke. METHODS: In the present study, a case-control association study was designed to identify 3 single-nucleotide polymorphisms (SNPs; rs5713919, rs1378577, and rs1893590), which were located in the promoter region of ABCG1 gene by kompetitive allele-specific polymerase chain reaction genotyping approach. The in vitro luciferase assay was done to estimate the effect of rs5713919 on gene expression. Finally, the relationships of 3 SNPs of ABCG1 gene with plasma lipids and lipoproteins were investigated in this Chinese cohort. RESULTS: The correlation analysis between lipids and genotypes showed that the rs57137919 locus genotype was significantly associated with HDL cholesterol (HDL-C) and low-density lipoprotein cholesterol (LDL-C) levels (P = 0.021 and P = 0.017, respectively), and the GA and AA genotypes had higher HDL-C levels than the GG genotype. CONCLUSIONS: Our study provides evidence that ABCG1 promoter region polymorphism rs57137919 has an influence on plasma HDL-C and LDL-C levels in Chinese Han population.