The CYP17A1 gene polymorphisms are associated with hypercholesterolemia in Han Chinese

Background The CYP17A1 gene has been identified to associate with hypertension in Chinese population. However, the association between CYP17A1 polymorphisms and hypertension-related factors is unclear. The present study aimed to investigate the relation between CYP17A1 single nucleotide polymorphisms (SNPs) and serum lipid profiles. Methods In total, 1350 participants were included in the study. Six SNPs in or near CYP17A1 gene were genotyped in a Han Chinese population in two stages. Results There was a statistically significant association of rs1004467 (adjusted odds ratio = 0.783, 95% confidence interval = 0.667-0.919, p < 0.05) and rs11191548 (adjusted odds ratio = 0.788, 95% confidence interval = 0.672-0.925, p < 0.05) with hypercholesterolemia after adjustment for potential factors. Additionally, the rs1004467 minor G-allele and the rs11191548 minor C-allele were significantly associated with the lower serum total cholesterol levels (p < 0.05 for all). Conclusions The rs1004467 and rs11191548 in the CYP17A1 gene are associated with a decreased risk of hypercholesterolemia and lower serum TC levels in Han Chinese.