Journal of Andrology
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Published-Ahead-of-Print May 13, 2010, DOI:10.2164/jandrol.109.008979

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Reda Z. Mahfouz
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Single Nucleotide Polymorphism (SNP) of Endothelial Nitric Oxide Synthase (eNOS) Gene (GLU298ASP Variant) in Infertile Men with Asthenozoospermia

Eddi Buldreghini , Reda Z. Mahfouz , Arianna Vignini , Laura Mazzanti , Giuseppe Ricciardo-Lamonica , Andrea Lenzi , Ashok Agarwal , and Giancarlo Balercia *

* To whom correspondence should be addressed. E-mail: g.balercia{at}univpm.it.

Our objectives were to elucidate the missense GLU298ASP polymorphism within exon 7 of the endothelial nitric oxide synthase (eNOS) gene in infertile men with asthenozoospermia and its potential role in sperm motility. In this prospective controlled study conducted at our Andrology unit, we investigated the frequency of the G894T polymorphism (Glu298Asp variant) within exon 7 of the eNOS gene in 70 infertile men and in 60 healthy men. Sperm motion kinetics were assessed with computer assisted se-men analysis (CASA). Presence of T>G, a single nucleotide polymorphism (SNP) in exon 7 of the eNOS gene (NCBI SNP cluster ID: rs1799983; genbank accession: NG 011992; Protein accession NP 000594 ) was determined by allele-specific polymerase chain reaction followed by restriction fragment length polymorphism (PCR-RFLP) analysis. Sequencing analysis was used to confirm the specific genotype. The G894T eNOS (T) allele was found at a higher frequency in the patients with asthe-nozoospermia (60% vs. 22.5% in the control group) (P = 0.02). The percentage of progressive motile sperm (grade a+b) was lower in the asthenozoospermic infertile men with the homozygote eNOS (TT) genotyping than in the wild-type eNOS (GG) (p = 0.02) and in the heterozygote eNOS (GT) genotyping (p = 0.01). However, the percentage of progressive motile sperm (grade a+b) was higher in the wild-type vs the mutant eNOS (TT) (p=0.03) and heterozygous eNOS (GT) ge-notyping (p=0.04). Our findings suggest that the T allele encoding for aspartic acid of the eNOS (Glu298Asp) gene may contribute to poor sperm motility.


Key words: Fertility • Infertility • Reproductive Genetics • Semen Analysis • Sperm • Glu298Asp variant • SNP • eNOS






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