Original Article Association between polycystic ovary syndrome (PCOS) and CYP11A1 polymorphism in Hainan, China: a case-control study

Polycystic ovary syndrome (PCOS) is one of the most common female endocrine disorders and a leading cause of female subfertility. The cytochrome P-450 11A1 (CYP11A1) gene encodes the key enzyme that cata- lyzes the initial and rate-limiting step in steroid hormone synthesis. In this study, the associations between sev- en single nucleotide polymorphisms (SNPs) in CYP11A1 and PCOS susceptibility were examined. Seven SNPs in CYP11A1 were genotyped using the MassARRAY iPLEX platform in 285 PCOS patients and 299 control individuals. Associations between the SNPs and the risk of PCOS were tested using various genetic models (co-dominant, domi- nant, recessive, and additive). Logistic regression models were used to derive odds ratios (ORs) and 95% confidence intervals. By χ 2 test, the differences of genotype frequencies of rs4887139 (P = 0.035) and rs4886595 (P = 0.046) were significant statistically difference between PCOS patients and controls under recessive model. In the genetic model analyses, we also found that the genotype "GG" of rs4887139 (P = 0.035) and genotype "CC" of rs4886595 (P = 0.04) were significant associated with increased the risk of PCOS by recessive model. We found four SNPs (rs12917295, rs11632698, rs1484215, and rs6495096) constructed four haplotypes ("CACG", "CATC", "CACC", and "GGCC") in the CYP11A1 gene and none of the haplotype was significantly associated with risk of PCOS.