Haplotype analyses of CYP17A1 genetic polymorphisms and coronary artery disease in a Uygur population

Background: The relationship between CYP17A1 genetic polymorphisms and coronary artery disease (CAD) remains unclear. The aim of the present study was to assess the association between CYP17A1 gene polymorphism and CAD in a Chinese Uygur population. Methods: A total of 493 people including 266 patients and 227 controls were selected for the present study. All CAD patients and controls were genotyped for the same five single nucleotide polymorphisms (SNPs) (rs4919686, rs1004467, rs4919687, rs10786712, and rs2486758) by a real-time PCR method. Results: The rs4919686, rs1004467, and rs4919687 polymorphisms were found to be associated with CAD in genotypes, dominant model, recessive model, and allele frequency (rs4919686: all p<0.05, rs1004467: all p0.001, rs4919687: all p<0.001); the significant difference was retained (all p<0.05) after adjustment for the major confounding factors. The overall distribution of haplotypes established by SNP1-SNP4 (in total subjects and men) and SNP1-SNP4-SNP5 (in total subjects) were significantly different between the CAD patients and the control subjects (p=0.006, men: p=0.026, and p=0.030, respectively). Conclusion: Polymorphisms rs4919686, rs4919687 and rs1004467 were found to be associated with CAD in this Uygur population.