Association of methylenetetrahydrofolate reductase C677T and A1298C polymorphisms with genetic susceptibility to polycystic ovary syndrome: A PRISMA-compliant meta-analysis

Abstract

BackgroundPolycystic ovary syndrome (PCOS) is considered as a complex disorder. The etiology of PCOS is multifactorial with a clear genetic component. Several human studies have been conducted to explore the association between MTHFR polymorphisms and PCOS susceptibility, but these provide inconsistent results and the combined result of A1298C remains vacant. Our aim is to examine whether MTHFR C677T or A1298C are related to PCOS. MethodsWe conducted a meta-analysis to investigate the association between MTHFR C677T or A1298C polymorphisms and PCOS. Electronic database was searched, including PubMed, Embase, CNKI, Web of science and the reference lists of relevant articles for studies published from the inception to June 17, 2019. The included studies were assessed in the following genetic model: dominant model, recessive model, allelic model, homozygote model, Heterozygote model. Results19 articles (21 studies) with 2383 patients of PCOS and 2492 controls were considered for MTHFR C677T, and 7 articles (8 studies) were employed for MTHFT A1298C in this meta-analysis. For MTHFR C677T and A1298C, significant association with PCOS was observed in the combined population and Asian population. None of the contrasts of genetic model yielded a significant finding in the Caucasian population. ConclusionOur result based on previously published studies demonstrated that T allele in MTHFR C677T polymorphism might be a genetic risk factor for PCOS, especially in the Asian population. MTHFR A1298C might be contribute to PCOS susceptibility. More efforts and further studies with larger sample size will be required to validate the risk of PCOS.