Association of methionine synthase A2756G SNP, methionine synthase reductase A66G and male infertility

The folate metabolic pathway consists of an important chain of reactions which lead to nucleic acid production and methylation of various substrates. Within this pathway MS, and MTRR, the enzyme which is responsible for the regeneration of MS, catalyzes the conversion of homocysteine to methionine. The MS A2756G and MTRR A66G variants are associated with reduced enzyme activity, increased homocysteine and reduced availability of SAM We analyzed the distribution of these single nucleotide polymorphisms in the two genes in a case group of 65 infertile Romanian patients with idiopathic azoospermia or severe oligozoospermia and a control group of 67 Romanian men, to explore the possible association of the MS A2756G and MTRR A66G polymorphisms and male infertility. Using the polymerase chain reaction - restriction fragment length polymorphism technique (PCR-RFLP), the allele and genotype distribution of the two SNPs were investigated in both patients and controls. The frequencies of these polymorphisms in infertile patients were not significantly higher than those in controls. Our findings suggest that there is no significant association of SNP A2756G in the MS gene or SNP A66G in the MTRR gene with azoospermia or severe oligozoospermia, indicating that these polymorphisms would not be genetic risk factors for male infertility in our Romanian population group.