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Background  The disorder of lipid metabolism and genetic predisposition are major risk factors for coronary artery disease (CAD). Variants in the apolipoprotein A1 ( APOA1 ) gene play an important role in the regulation of lipids. The objective of the present study was to investigate the effect of two polymorphisms (-75 G/A and +83 C/T) of  APOA1  on lipid profiles and the risk of CAD.    Methods  A total number of 300 subjects with CAD and 300 age and sex matched healthy controls were enrolled for the study. Genotyping of the  APOA1  was performed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) combined with gel electrophoresis, and then confirmed by direct sequencing.    Results  The frequencies of  APOA1  -75 AA genotype [odds ratio (OR) =0.50, 95 % confidence interval (CI) = 0.28, 0.88;  P  = 0.02] and  APOA1  -75 A allele (OR =0.76, 95 % CI = 0.59, 0.98;  P  = 0.04) were significantly lower in CAD than in controls. The  APOA1  -75 A allele was significantly associated with increasing serum concentrations of ApoA1 and high-density lipoprotein cholesterol (HDL-C) ( P  < 0.001).    Conclusions  The individuals with the  APOA1  -75 A allele were likely to have a lower risk of CAD as a result of its effect on higher serum concentrations of ApoA1 and HDL-C.

Effect of apolipoprotein A1 genetic polymorphisms on lipid profiles and the risk of coronary artery disease