RRML - Association of betaine-homocysteine S-methyltransferase gene G742A SNP and male infertility

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Nr. 20(1)/2012

Association of betaine-homocysteine S-methyltransferase gene G742A SNP and male infertility

Radu A. Popp, Marius F. Farcaş, Adrian P. Trifa, Tania O. Crişan, Mariela S. Militaru, Ioan V. Pop

Abstract:

The folate metabolic pathway is a complex biochemical chain of reactions essential for cellular function. Within this pathway BHMT (betaine-homocysteine S-methyltransferase) catalyzes the conversion of homocysteine to methionine. The BHMT G742A SNP (single nucleotide polymorphism) is suspected to alter the enzyme’s normal activity, hence increasing homocysteine and reducing folate plasma levels. We analyzed the distribution of this single nucleotide polymorphism in the BHMT gene in a case group of 66 infertile Romanian patients with idiopathic azoospermia or severe oligozoospermia and a control group of 67 fertile Romanian men, to explore the possible association of the G742A polymorphism and male infertility. Using the polymerase chain reaction – restriction fragment length polymorphism technique (PCR-RFLP), the allele and genotype distribution of SNP G742A in the BHMT gene was investigated in both patients and controls. The allelic frequencies of the variant A allele were significantly higher in the patients group compared to the controls. Our findings suggest that the BHMT G742A SNP is a genetic risk factor for idiopathic male infertility in our Romanian population group.

Keywords: infertility,homocysteine,folate,azoospermia

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Popp RA, Farcaş MF, Trifa AP, Crişan TO, Militaru MS, Pop IV. Association of betaine-homocysteine S-methyltransferase gene G742A SNP and male infertility. Rev Romana Med Lab. 2012;20(1):57-62