The CYP17 MSP AI (T-34C) and CYP19A1 (Trp39Arg) variants in polycystic ovary syndrome: A case-control study

Background: Polycystic ovary syndrome (PCOS) is a common and chronic disorder of endocrine glands where genetic factors play a major role in the susceptibility to the disease. The cytochrome (CYP) 17 enzyme is essential for androgens biosynthesis. Also, the CYP19 enzyme converts the androgens to the aromatic estrogens. Objective: We aimed to investigate the association of CYP 17 MSP AI (T-34C) and CYP 19A1 (Trp39Arg) variants with the pathogenesis of PCOS in a population from Western Iran with Kurdish ethnic background. Materials and Methods: The present case-control study consisted of 50 patients with PCOS and 109 controls. The CYP17 T-34C and CYP19A1 (Trp39Arg) polymorphisms were identified by polymerase chain reaction-restriction fragment length polymorphism. The serum lipid and lipoprotein profile were detected by the Bionic Diagnostic Kits. Estradiol, dehydroepiandrosterone (DHEA), and sex hormone-binding globulin (SHBG) levels were measured using the chemiluminescent method. Results: The serum levels of estradiol and SHBG in PCOS patients were lower than controls (p < 0.001 and p = 0.06, respectively). However, the level of DHEA was higher (p = 0.01) in patients compared to controls. The higher frequency of CYP17 TC genotype in patients (30%) compared to controls (15.6%) was associated with 2.31-fold susceptibility to PCOS (p = 0.038). The frequency of CYP19 TC genotype was 6.4% in controls and 10% in patients (p = 0.42). Conclusion: The present study suggests that CYP17 TC genotype could be associated with the risk of PCOS. Also, the study indicated the sex steroid hormones level alteration and the lower level of SHBG in PCOS patients compared to healthy individuals.