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Some studies have reported an association between the Methylenetetrahydrofolate reductase (MTHFR) C667T genetic variant and risk of polycystic ovary syndrome (PCOS), although the results remain controversial. A systematic search was conducted on PubMed, Web of Science, EMBASE, Ovid, Chinese National Knowledge Databases and WanFang databases with relevant keywords. Fourteen studies of sixteen distinct populations involving 1478 PCOS cases and used to conduct a meta-analysis. The T allele was not significantly associated with increased risk of PCOS [OR: 1.08; 95% CI: 0.96–1.21]. In the stratified analysis by ethnicity, the T allele significantly increases risks for the Asian [OR = 1.31; 95% CI: 1.09–1.58] population. No significant associations were detected for the Middle Eastern population [OR = 1.26; 95% CI: 0.96–1.67] and the T allele was found to be protective in the Caucasian population [OR = 0.82; 95% CI: 0.68–0.99]. In conclusion, this meta-analysis suggests that MTHFR C667T variant can increase, decrease, or have no effect on the risks of PCOS depending on the ethnicity.

Methylenetetrahydrofolate reductase C677T polymorphism and the risks of polycystic ovary syndrome: an updated meta-analysis of 14 studies