Association Between Methylenetetrahydrofoate Reductase Gene C677T Polymorphism and Susceptibility to Polycystic Ovary Syndrome

Polycystic ovary syndrome (PCOS) is the most common form of endocrinopathy of women. Several studies have investigated the association of methylenetetrahydrofolate reductase (MTHFR) gene C677T polymorphism with PCOS risk but the results are contradictory. So, the aim of the present study was to carry out a meta-analysis of a published case control studies to find out exact association between MTHFR gene C677T polymorphism and PCOS susceptibility. Pubmed, Springer link, Science Direct and Google Scholar databases were searched for case-control studies. Odds ratios (ORs) with 95% confidence intervals (CIs) was used as association measure and meta-analysis was performed using MIX and MetaAnalyst programs. Meta-analysis of 24 studies showed strong significant association between C677T polymorphism and PCOS risk (OR: T vs. C = 1.18, 95% CI 1.01-1.38, p = 0.03; OR: TT vs. CC = 1.37, 95% CI 1.0-1.89, p = 0.04; OR: TT + CT vs. CC = 1.31, 95% CI 1.07-1.62, p = 0.008; OR: CT vs. CC = 1.31, 95% CI 1.04-1.62, p = 0.02 and OR: TT vs. CT + CC = 1.10, 95% CI = 0.82-1.47, p = 0.04). In subgroup analysis, MTHFR C677T polymorphism is significantly associated with PCOS risk with Asian individuals but in Caucasian population MTHFR C677T polymorphism was not significantly associated with PCOS risk. In conclusion, C677T polymorphism is a risk factor for PCOS.