Association Study of the Rs2230806 Genetic Variation with Lipid Profile and Coronary Artery Disease Risk in an Iranian Population.

BACKGROUND

plays essential roles in the biogenesis of high -density lipoprotein - cholesterol. Variations in the ABCA1 gene may influence the risk of coronary artery disease (CAD).

AIM

Present study aimed to investigate the association of rs2230806 (R219K) polymorphism of gene with the development and severity of CAD in an Iranian population.

MATERIALS AND METHODS

Our study population consisted of 100 patients with angiographically confirmed CAD and 100 controls. The genotyping of mutation of gene was determined by PCR - RFLP method. Lipid profile was determined using routine colourimetric assays. Statistical analysis was done by SPSS - 16.

RESULTS

The genotypic (P = 0.024) and allelic (P = 0.001) distribution of the polymorphism were significantly different between the two groups. In a univariate analysis (with genotype RR as the reference), the genotype (OR = 0.46, 95%CI = 0.25-0.86, P = 0.020) and genotype (OR = 0.27, 95%CI = 0.11 - 0.66, P = 0.005) was significantly associated with a decreased risk of CAD. A multiple logistic regression analysis revealed that smoking (0.008), diabetes (P = 0.023), triglyceride (P = 0.001), HDL - cholesterol (P = 0.002) and genotype (P = 0.009) were significantly and independently associated with the risk of CAD. The association between different genotypes of polymorphism with lipid profile was not significant in both groups (P > 0.05). The polymorphism was significantly associated with severity of CAD (P < 0.05).

CONCLUSION

The carriage of K allele of polymorphism has a protective effect on CAD risk and correlates with a decreased severity of CAD. This protective effect seems to be mediated independently of plasma lipid levels.