Methylenetetrahydrofolate reductase G1793A polymorphism and male infertility in a Romanian…

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Article Title:	Methylenetetrahydrofolate reductase G1793A polymorphism and male infertility in a Romanian population group
Authors:	Marius-Florin FARCAS*, Adrian Pavel TRIFA, Mariela MILITARU, Flaviu Andrei CSERNIK, Tania CRISAN, Ion Victor POP, Radu Anghel POPP
Affiliation:	Department of medical genetics, “Iuliu Hatieganu” University of Medicine and Pharmacy, Cluj-Napoca, Romania
Abstract:	Folate metabolism is essential for proper cellular function, including DNA methylation. MTHFR provides methyl groups for numerous reactions including DNA methylation. Molecular analysis was performed in a case group of 66 infertile Romanian patients with idiopathic azoospermia or severe oligozoospermia and a control group of 67 Romanian men, to explore the possible association of the G1793A polymorphism and male infertility. Using the polymerase chain reaction – restriction fragment length polymorphism technique (PCR-RFLP), the allele and genotype distribution of SNP G1793A in the MTHFR gene were investigated in both patients and controls. The frequencies of the polymorphism in infertile patients were not significantly higher than those in controls, indicating that this polymorphism would not be a genetic risk factor for male infertility in our study group.
Keywords:	homocysteine, folate, azoospermia, DNA methylation, infertility
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*Correspondence:	Marius-Florin Farcas, “Iuliu Hatieganu” University of Medicine and Pharmacy Cluj Napoca, Faculty of Medicine, Department of Medical Genetics, no.6, Pasteur St., 400349, Cluj Napoca, Romania, email: marius_seraph@yahoo.com