Objective: To 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.
Design: Retrospective study.
Setting: A 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, 17alpha-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.