Genetic Polymorphism of CYP1A1 (T6235C) Gene as a Risk Factor for Polycystic Ovary Syndrome

Abstract

Objective: The aim of this study was to test the association of CYP1A1 gene T6235C polymorphism with Polycystic Ovary Syndrome (PCOS). Methods: In a case control study, 100 women with PCOS (Rotterdam criteria) and 100 ages matched healthy controls were enrolled and compared with respect to CYP1A1 T6235C polymorphism. The clinical, biochemical and Sonographic parameters of wild type (TT), heterozygous (TC), and homozygous mutant (CC) genotypes in PCOS women were compared with that in controls. Results: The risk ratio of bearing TC genotype was 1.3327 (p=0.32), and CC genotype was 2.6084 (p=0.14) in women with PCOS on the whole. However in PCOS women with the Sonographic presence of Polycystic Ovaries (PCO), the risk ratio became significant for TC genotype (OR=1.872; p=0.04) but not for CC genotype (OR=4.05; p=0.08). There was also a significant association of TC and CC genotypes with ovarian volume (p=0.000) as well as with waist circumference (p=0.03). However, the Total Testosterone, Fasting Glucose: Insulin ratio, LH: FSH ratio and HDL were insignificantly altered. Conclusion: Both homozygous and heterozygous mutation of CYP1A1 confers an increased susceptibility to develop PCO. The abnormal folliculogenesis and hormone imbalance may be a result of CYP1A1 gene polymorphism due to toxin mediated endocrine disruption which along with other contributory factors may lead to full-fledged polycystic ovary syndrome.