Role of MTHFR Gene Polymorphisms in Male Infertility

Abstract

Ab s t r Ac t Background: Folate metabolism plays an important role in appropriate cellular function, DNA methylation, repair, and synthesis. C677T and A1298C variants of methylenetetrahydrofolate reductase (MTHFR) play a role in reduced plasma folate and increase the susceptibility to various multifactorial disorders. Aim and objective: The present study was aimed to detect the association of C677T polymorphism and A1298C polymorphism in the MTHFR gene with male infertility. Materials and methods: In the current study, we analyzed a group of 50 infertile men with a clinical history of nonobstructive azoospermia or severe oligozoospermia. For the control group, we also analyze 50 fertile men. Cytogenetic analysis revealed a normal male karyotype in 50 cases of infertile men, which further subjected to molecular analysis. The expected genotype and allele frequencies were calculated for both infertile men and controls. These frequencies were tested when the study group followed Hardy–Weinberg equilibrium. The interaction between the MTHFR genotypes was calculated using the odds ratio for mutant genotypes as compared to the wild types. To evaluate the risk of the different genotypes, 95% confidence intervals (CI) were calculated. Results: The A1298C polymorphism of the MTHFR gene was present at a statistically increased significance in infertile men. Interpretation and conclusion: We concluded that MTHFR C677T gene polymorphism is not associated with male infertility whereas A1298C gene polymorphism showed a significant increase in male infertility. To better understanding the causes of male infertility, future studies to be conducted in a large population to obtain a better understanding of the complex gene-to-gene interactions.