CYP11A1 and CYP17 promoter polymorphisms associate with hyperandrogenemia in polycystic ovary syndrome

ObjectiveTo analyze promoter regions of CYP11A1 and CYP17 for putative variations in a defined group of women with polycystic ovary syndrome (PCOS) and to study their association with androgen levels.DesignRetrospective study.SettingA secondary referral center for infertility at National Institute for Research in Reproductive Health, Mumbai, India.Patient(s)One hundred women whose condition was diagnosed on the basis of the Rotterdam consensus were compared against 100 age-matched controls.Intervention(s)A single sample of blood was collected after overnight fast on day 3 of the menstrual cycle.Main outcome Measure(s)Plasma levels of T, androstenedione, 17α-hydroxyprogesterone, and DHEAS and nucleotide sequence of promoter regions of CYP11A1 and CYP17 genes.Result(s)Polymorphisms in promoter regions of the two key androgen-regulating genes, CYP11A1 and CYP17, were found to be significantly associated with T levels in the cohort of well-characterized PCOS cases as compared with controls. The significance was greater in the PCOS cases with both the polymorphisms.Conclusion(s)Our study carried out in a defined group of Indian women with PCOS suggests for the first time an individual, as well as combined, association of polymorphisms in CYP11A1 and CYP17 promoters with T levels.