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

ISSN online: 2284-5623

ISSN-L: 1841-6624

Impact factor (2016): 0.325

Rejection rate (2016): 55%

Română English


SCImago Journal & Country Rank


Advanced search


Top 10 downloaded articles
- November 2017 -
 
Retraction of article: Risk facto... 25
Romanian Review of Laboratory Med... 13
Beta-lactam and quinolone resista... 12
The frequency of shiga-like toxin... 10
Innate Immune Mechanisms in Myoca... 7
Epidemiological data and antifung... 7
Eulogy for Aurel BIZO... 7
Effects of low-molecular weight a... 6
Association of Human Leukocyte An... 6
Co-expression of the CBFβ-MYH11 ... 4

Log in

Concept, Design & Programming
Dr. Adrian Man

   
 
Nr. 20(1)/2012
XML
TXT

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

Asocierea polimorfismului genei betain-homocistein S-metiltransferazei G742A şi infertilitatea masculină

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

 
  PDF Download full text PDF
(97 KB)
     
 
How to cite
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