ABCA1 variants rs2230806 (R219K), rs4149313 (M8831I), and rs9282541 (R230C) are associated with susceptibility to coronary heart disease.

Abstract

BackgroundTo investigate the association between three single nucleotide polymorphisms (SNPs) of ABCA1 gene and susceptibility to coronary heart disease (CHD) in Chinese Han population.MethodsA total of 484 CHD patients and 488 controls were included in the study. Three SNPs rs2230806 (R219K), rs4149313 (M8831I), and rs9282541 (R230C) in ABCA1 gene were genotyped by SNaPshot.ResultsSingle nucleotide polymorphism rs1800977 was associated with susceptibility to CHD (AA vs GG, P = 0.013; A vs G, P = 0.029; recessive model, P = 0.020). Rs4149313 (AA vs GG, P = 0.010; recessive model, P = 0.011) and rs9282541 (T vs C, P = 0.029; dominant model, P = 0.039) were also risk factor for CHD.ConclusionThis study suggests that three SNPs rs2230806, rs4149313, and rs9282541 in ABCA1 gene are significantly associated with susceptibility to CHD; further mechanism should be performed to be applied to drug research and development.