Objectives Cytochrome P450 (CYP) 2C9 is expressed in the vascular endothelium and metabolises arachidonic acid to biologically active epoxyeicosatrienoic acids (EETs), which has a crucial role in the modulation of cardiovascular homeostasis. The aim of the present study was to assess the association between the human CYP2C9 gene and coronary artery disease (CAD) in a Han Population of China.
Methods A total of 301 CAD patients and 220 control subjects were genotyped for 4 single-nucleotide polymorphisms (SNPs) of the human CYP2C9 gene (rs4086116, rs2475376, rs1057910, and rs1934967) by a Real -time PCR instrument. The data was assessed for 3 groups: total, men, and women via diplotype-based case–control studies.
Results For men, the distribution of the dominant model of SNP2 (rs2475376) (CC vs CT + TT) was slightly lower in CAD patients than in control participants (P = 0.045). For women, the distribution of genotypes, dominant model and alleles of SNP2 (rs2475376) showed significant difference between the CAD patients and control participants (P = 0.033, P = 0.010 and P = 0.038, respectively). The significant difference of the dominant model (CC vs CT + TT) was retained after adjustment for covariates in women, but not in men (for women, OR: 0.412, 95% confidence interval [CI]: 0.222-0.766, P <0.005; and for men, OR: 1.372, 95% CI: 0.861-2.186, P = 0.184). For men, the CCAC/CCAT diplotype were lower in the CAD patients than control participants (P = 0.024). For women, the two haplotype (C-T-A-C, C-C-A-T) and two diplotypes (CTAC/CTAC, CTAC/CCAC) in CYP2C9 gene showed significant difference between the CAD patients and control participants (P = 0.0032, P = 0.0016 and P = 0.004, P = 0.016 respectively).
Conclusions The results of this study indicate that, in Chinese men, the CCAC/CCAT diplotype of CYP2C9 may be a useful genetic marker of CAD; in women, CAD is associated with the rs2475376T allele of CYP2C9, in addition, CTAC/CTAC and CTAC/CCAC diplotypes could be a useful genetic marker of CAD.