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

Abstract Background and Purpose: ATP binding cassette subfamily G member 1 (ABCG1) has the function of transporting free intracellular cholesterol to extracellular high-density lipoprotein particles, which plays 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 three single-nucleotide polymorphisms (rs5713919, rs1378577 and rs1893590) that located in the promoter region of ABCG1 gene by Kompetitive Allele Specific PCR genotyping approach. The in vitro luciferase assay was done to estimate the effect of rs5713919 on gene expression. Finally, the relationships of three single-nucleotide polymorphisms 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 high-density lipid-C and low-density lipid-C levels (P=0.021; P=0.017, respectively), and the GA and AA genotypes had higher high-density lipid-C levels than the GG genotype. Conclusion Our study provides evidence that ABCG1 promoter region polymorphism rs57137919 has an influence on plasma high-density lipid-C and low-density lipid-C levels in Chinese Han population.