The Methylenetetrahydrofolate Dehydrogenase (MTHFD 1) gene G1958A polymorphism and idiopathic male infertility in a Romanian population group

Abstract

Background. The folate pathway consists of a complex chain of biochemical reactions essential for the cellular function. Within this pathway C1-THF synthase (C-1-tetrahydrofolate synthase) coded by the MTHFD1 gene is crucial for the conversion of homocysteine to methionine, as well as purine and pyrimidine synthesis. The MTHFD1 G1958A variant could alter the enzyme’s normal activity which may further modify this metabolic pathway.
Objectives. To explore the possible association of the MTHFD1 G1958A polymorphism and idiopathic male infertility.
Patients and Methods. Sixty-six male Romanian patients with idiopathic infertility and 67 fertile Romanian men were genotyped for the MTHFD1 G1958A variant, using the polymerase chain reaction – restriction fragment length polymorphism technique (PCR-RFLP).
Results. The 1958A allele had a frequency of 52.27% in the male infertility group, and 45.52% in controls. The comparative analysis between patients and controls genotypes distribution revealed the 1958AA homozygous genotype was more frequent in the male infertility group than in controls (OR = 2.139, p-value = 0.07)
Conclusions. We have found that the variant homozygous genotype might represent a genetic risk factor for idiopathic infertility in our study groups.