Purpose: To investigate the influence of the cytochrome P450 17α (CYP17A1) gene -34T/C polymorphism in the pathogenesis of polycystic ovary syndrome (PCOS) in Han Chinese population.
Methods: Three-hundred eighteen patients with PCOS and 306 controls were recruited and the CYP17A1 -34T/C polymorphism was genotyped using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Furthermore, the relationship of CYP17A1 -34T/C polymorphism and clinical feature parameters of PCOS patients was also analyzed.
Results: The prevalence rates of CYP17A1 genotype TT, TC and CC were 49.69%, 43.71% and 6.6% in the case group and those were 44.77%, 46.08% and 9.15% in the control group. The frequencies of CYP17A1 T and C alleles were 71.54% and 28.46% in the case group, and those were 67.81% and 32.19% in the control group. Neither the genotypic nor the allelic distribution was significantly different between the cases and controls. However, the PCOS patients with the genotype of CC had significantly higher total testosterone levels and Homeostatic Model Assessment for Insulin Resistance (HOMA-IR) than those with the genotype of TT or TC.
Conclusions: The CYP17A1 gene -34T/C polymorphism might not be directly correlated with the PCOS, but might influence PCOS via the association of testosterone level and the HOMA-IR.
Keywords: CYP17A1; SNP; polycystic ovary syndrome; testosterone.