Role of methylenetetrahydrofolate reductase genetic polymorphisms in polycystic ovary syndrome risk

We carried out a study to investigate the association between MTHFR C677T and A1298C genetic variations and risk of polycystic ovary syndrome. With a hospital-based case-control design, 175 patients and 236 control subjects were recruited in Reproductive Medical Center of Henan provincial People's Hospital between January 2014 and March 2015. The genotyping of the MTHFR C677T and A1298C was carried out using polymerase chain reaction (PCR)-coupled with restriction fragment length polymorphism (RFLP). A significant difference was observed between the two study groups in terms of the genotype frequencies of MTHFR C677T (chi(2)=15.23, P<0.001). Using multiple logistic regression analysis, we observed that the CT (OR=1.65, 95% CI=1.03-2.65) and TT (OR=2.84, 95% CI=1.61-5.02) genotypes of MTHFR C677T and A1298C carriers showed increased risk to polycystic ovary syndrome when compared to the CC genotype carriers. Subjects with T allele of MTHFR C677T had an elevated risk of polycystic ovary syndrome in comparison to the C allele (OR=1.80, 95% CI=1.35-2.40). However, no significant was observed between MTHFR A1298C genotype and allele polymorphisms and risk of polycystic ovary syndrome. In summary, our study suggests that the THFR C677T may contribute to polycystic ovary syndrome risk in the Chinese women under investigation. Further research employing a greater number of study subjects is greatly required to corroborate our results.