International Journal of Molecular Sciences (Apr 2012)
Risk-Association of <em>CYP11A1</em> Polymorphisms and Breast Cancer Among Han Chinese Women in Southern China
Abstract
Exposure to endogenous sex hormones has been reported as a risk factor for breast cancer. The <em>CYP11A1</em> gene encodes the key enzyme that catalyzes the initial and rate-limiting step in steroid hormone synthesis. In this study, the associations between single nucleotide polymorphisms (SNPs) in <em>CYP11A1</em> and breast cancer susceptibility were examined. Six SNPs in <em>CYP11A1 </em>were genotyped using the MassARRAY IPLEX platform in 530 breast cancer patients and 546 healthy controls. Association analyses based on a χ<sup>2</sup> test and binary logistic regression were performed to determine the odds ratio (<em>OR</em>) and 95% confidence interval (95% <em>CI</em>) for each SNP. Two loci (rs2959008 and rs2279357) showed evidence of associations with breast cancer risk. The variant genotype C/T-C/C of rs2959008 was significantly associated with a decreased risk (age-adjusted<em> OR</em>, 0.75; 95% <em>CI</em>, 0.58–0.96; <em>P </em>= 0.023) compared with the wild-type TT. However, the homozygous TT variant of rs2279357 exhibited increased susceptibility to breast cancer (age-adjusted<em> OR</em>, 1.44; 95% <em>CI</em>, 1.05–1.98; <em>P </em>= 0.022). The locus rs2959003 also showed an appreciable effect, but no associations were observed for three other SNPs. Our results suggest that polymorphisms of <em>CYP11A1</em> are related to breast cancer susceptibility in Han Chinese women of South China.
