Associations of C677T polymorphism in methylenetetrahydrofolate reductase (MTHFR) gene with male infertility risk: A meta-analysis

Methylenetetrahydrofolate reductase is one of the key enzymes in folate metabolism. But the association between polymorphism and the risk of male infertility is still controversial. Therefore, this study used a meta-analysis on the collection of data to analyze MTHFR gene C677T polymorphism (known as c. 665 C>T, rs1801133, p.Ala222Val).

PubMed, EMBASE, China National Knowledge Infrastructure (CNKI), and Wan fang. Data were searched to identify eligible studies. We sifted the data collection by Hardy-Weinberg equilibrium calculator and used odds ratios (ORs) and 95% confidence intervals (95% CIs) to conduct data through RevMan5.0 and StataSE12.0 software.

A total of 15 studies have 3853 patients with infertility and 3613 healthy controls in this meta-analysis. Our results showed that T variant of MTHFR C677T gene polymorphism was significantly associated with an increased risk of male infertility (forT vs. C: OR=1.38, 95% CI=1.18-1.63; for TT vs. CC: OR=1.86, 95% CI=1.36-2.54; for CT vs. CC: OR=1.34, 95% CI=1.03-1.74; for TT vs. CT: OR=1.52, 95% CI=1.26-1.84; for TT vs. CT+CC: OR=1.42, 95% CI=1.19-1.70; for TT+CT versus CC: OR=1.46, 95%CI=1.05-2.04). In addition, the results indicated that T allele had the positive association which was driven by East-asian populations (random: OR=1.44, 95% CI=1.2-1.74; fixed: OR=1.39, 95% CI=1.20-1.61), Middle-eastern populations (random: OR=1.30, 95% CI=1.05-1.63; fixed: OR=1.30, 95% CI=1.05-1.63) and Mixed-race (random: OR=1.96, 95% CI=1.35-2.85; fixed: OR=1.31, 95% CI=1.20-1.43).

This meta-analysis suggests that MTHFR C677T polymorphism is associated with male infertility.

European journal of obstetrics, gynecology, and reproductive biology. 2017 Mar 04 [Epub ahead of print]

Hui-Hui Hong, Yan Hu, Xiao-Qing Yu, Liang Zhou, Mo-Qi Lv, Ying Sun, Wen-Juan Ren, Dang-Xia Zhou

Department of Pathology, Medical School, Xi'an Jiaotong University, Xi'an 710061, China; Key Laboratory of Environment and Genes Related to Diseases, Ministry of Education, Xi'an 710061, China., Department of Gynecology & Oncology , Shaanxi Provincial Tumor Hospital, Xi'an 710061, China., Department of Gynecology and Obstetrics, Kangfu Hospital of Shaanxi Province, Xi'an, China., Reproductive Medicine Center, North-West Maternal and child Hospital, Xi'an 710003, China., Department of Pathology, Medical School, Xi'an Jiaotong University, Xi'an 710061, China; Reproductive Medicine Center, North-West Maternal and child Hospital, Xi'an 710003, China., Department of Pathology, Medical School, Xi'an Jiaotong University, Xi'an 710061, China; Key Laboratory of Environment and Genes Related to Diseases, Ministry of Education, Xi'an 710061, China. Electronic address: .