Abstract

Human methylenetetrahydrofolate reductase (MTHFR) gene plays a vital role in folate metabolism. This gene is located on chromosome 1 and has 12 exons. Many single nucleotide polymorphisms are found in MTHFR gene, in which the C677T variation is one of the key polymorphism. In this literature review, four experimental studies investigating the correlation of the abovementioned polymorphism with male infertility in Iranian population were enrolled (a specific Caucasian ethnicity). To obtain more comprehensive outcomes, a meta-analysis was made by data extraction from four published papers. Eligible studies were found through a comprehensive search using appropriate electronic databases and were analyzed by Metagenyo online software. Finally, significant associations between C677T gene polymorphism and male infertility in TT vs. CC, CT vs. CC, TT+TC vs. CC, and TT vs. TC+CC genetic models were found in Iranian population with no publication bias. MTHFR gene polymorphisms could be associated with infertility in men. Thus, determination of a polymorphism genotype in this gene could be useful for infertile individuals screening.

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