Methylenetetrahydrofolate Reductase C677T Polymorphism and Risk for Male Infertility in Asian Population

Methylenetetrahydrofolate reductase (MTHFR) is a critical enzyme of folate pathway and required for DNA synthesis and methylation. MTHFE C677T polymorphisms is reported as risk factors for various diseases and disorders like birth defects, metabolic, neurological, psychiatric disorders, and cancers. Several studies have investigated association between the MTHFR C677T polymorphism and male infertility. To assess the risk associated with MTHFR C677T polymorphism in Asian population, a meta-analysis was performed. Included articles were collected from the following electronic databases: PubMed, Google Scholar, and Science direct up to March 2015. Risk was estimated as pooled odds ratios (ORs) with confidence intervals (CIs) for assessment. Seventeen case-control studies involving 4392 breast infertile males and 3667 fertile males were found suitable for the inclusion in the present meta-analysis. Results showed that the C677T polymorphism was significantly associated with male infertility in Asian population using all the five genetic models (OR_{T vs. C} (allele contrast model) = 1.86, 95% CI 1.7-2.0; OR_{TT vs. CC} (homozygote model) = 1.96, 95% CI 1.67-2.30; OR_{CT vs. CC} (co-dominant model) = 1.40, 95% CI 1.18-1.62; OR_{TT+CT vs. CC} (dominant model) = 1.53, 95% CI 1.30-1.77; OR_{TT vs. CT+CC} (recessive model) = 1.67, 95% CI 1.44-1.92). In conclusion, results of present meta-analysis strongly supported an association between C677T polymorphism and male infertility in Asians.