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 disorderof endocrine glands where genetic factors play a major role in the susceptibility tothe 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 CYP19A1 (Trp39Arg) variants with the pathogenesis of PCOS in a population from WesternIran with Kurdish ethnic background.Materials and Methods: The present case-control study consisted of 50 patients withPCOS and 109 controls. The CYP17 T-34C and CYP19A1 (Trp39Arg) polymorphismswere identified by polymerase chain reaction-restriction fragment length polymorphism.The serum lipid and lipoprotein profile were detected by the Bionic DiagnosticKits. 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 thancontrols (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 inpatients (30%) compared to controls (15.6%) was associated with 2.31-fold susceptibilityto PCOS (p = 0.038). The frequency of CYP19 TC genotype was 6.4% in controls and10% in patients (p = 0.42).Conclusion: The present study suggests that CYP17 TC genotype could be associatedwith the risk of PCOS. Also, the study indicated the sex steroid hormones levelalteration and the lower level of SHBG in PCOS patients compared to healthyindividuals.

Keywords:

Cytochrome 17 (T-34C) , Cytochrome 19 (Trp39Arg) , Polycystic ovary syndrome , Sex steroid hormones , Sex hormone-binding globulin