MTHFR C677T Polymorphism in Turkish Women with Polycystic Ovary Syndrome

Objective: Polycystic ovary syndrome (PCOS) is one of the most common endocrine-reproductive-metabolic disorders of women at reproductive age, affecting 5-15% of the women worldwide. Although the pathogenesis of PCOS is not well defined, it is associated with an increased risk of premature coronary artery disease (CAD). Hyperhomocysteinemia (HHcy) is associated with hyperlipidemia and is an independent risk factor for CAD. The most common cause of HHcy is related to the deficiency of methylenetetrahydrofolate reductase (MTHFR). This study aimed to investigate the relationship between different genotypes of MTHFR C677T and the risk of PCOS. Material and Methods: Two hundred twenty voluntary premenopausal women (110 healthy controls and 110 PCOS patients) were included in the study. All the volunteers underwent a physical examination along with biochemical hormonal evaluation and genetic analysis. Results: The genotyping analyses and genetic model of inheritance analyses revealed that the frequencies of CC, CT, and TT genotypes in the control and PCOS group to be 51.8%, 45.5%, and 2.7% and 51.8%, 48.2%, and 0%, respectively. The frequency of C and T alleles in the control and PCOS group was determined to be 74% (C: 0.74/155) and 26% (T: 0.26/53), and 75% (C: 0.75/167) and 25% (T: 0.25/53), respectively. The “T” additive, “T” dominant, and “C” recessive models it found that the CT vs. CC (OR:1.06 Cl:0.62-1.83), CC vs. TC+TT (OR: 0.99 Cl: 0.58-1.72), and TC+TT vs. CC (OR: 0.99 Cl: 0.58-1.70), respectively, did not show an increase in the PCOS risk. Conclusion: Our findings indicated that the different genotypes of MTHFR C677T were not associated with the risk of PCOS in Turkish women from Central Anatolia.