MTHFR gene polymorphisms and risk of male infertility

The A1298C and C665T polymorphisms of methylenetetrahydrofolate reductase (MTHFR) gene have previously been reported to be associated with male infertility in various populations. Methylenetetrahydrofolate reductase (MTHFR) is one of the key controlling gene intricated in DNA synthesis, folate metabolism and methylation reactions. Variants in MTHFR gene in the folate metabolic pathway show diverse geographical and ethnic distribution and in some cases have been linked to diseases. Two single nucleotide polymorphisms (SNPs) in the MTHFR gene, (C665T: rs 1801133 and A1298C: rs 1801131) are separately associated with an increased thermoliability and reduced biochemical activity of the enzyme.