• PMID: 20467051
• Gene Name: NOS3
• Condition: Asthenozoospermia
• Association: Associated
• Mutation: 894G>T polymorphism (Glu298Asp variant)
• Population size: 130
• Population details: 130 (70 infertile men, 60 healthy men)
• Sex: Male
• Infertility type: Male infertility
• Associated genes: eNOS
• Other associated phenotypes: Asthenozoospermia

Single nucleotide polymorphism (SNP) of the endothelial nitric oxide synthase (eNOS) gene (Glu298Asp variant) in infertile men with asthenozoospermia

Buldreghini E, Mahfouz RZ, Vignini A, Mazzanti L, Ricciardo-Lamonica G, Lenzi A, Agarwal A, Balercia G.

The objective of this study was 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 in our andrology unit, we investigated the frequency of the 894G>T polymorphism (Glu298Asp variant) within exon 7 of the eNOS gene in 70 infertile men and 60 healthy men. Sperm motion kinetics were assessed with computer-assisted semen analysis. The presence of G>T, a single nucleotide polymorphism (SNP) in exon 7 of the eNOS gene (NCBI SNP cluster rs1799983; GenBank accession number NG_011992; protein accession number NP_000594) was determined by allelespecific polymerase chain reaction followed by restriction fragment length polymorphism analysis. Sequencing analysis was used to confirm the specific genotype. The 894G>T eNOS allele (T) was found at a higher frequency in the patients with asthenozoospermia (60% vs 22.5% in the control group; P = .02). The percentage of progressive motile sperm (grade a + b) was lower in the asthenozoospermic infertile men with the homozygous eNOS (TT) genotype than in the wild-type eNOS (GG) (P = .02) and heterozygous eNOS (GT) genotypes (P = .01). However, the percentage of progressive motile sperm (grade a + b) was higher in the wild-type vs mutant eNOS (TT) (P = .03) and heterozygous eNOS (GT) genotypes (P = .04). Our findings suggest that the T allele encoding for aspartic acid of the eNOS (Glu298Asp) gene may contribute to poor sperm motility. FAU - Buldreghini, Eddi AU - Buldreghini E AD - Andrology Unit, Endocrinology, Department of Internal Medicine and Applied Biotechnologies, Umberto I Hospital, Torrette, Via Conca, 60100 Ancona, Italy. FAU - Mahfouz, Reda Z AU - Mahfouz RZ FAU - Vignini, Arianna AU - Vignini A FAU - Mazzanti, Laura AU - Mazzanti L FAU - Ricciardo-Lamonica, Giuseppe AU - Ricciardo-Lamonica G FAU - Lenzi, Andrea AU - Lenzi A FAU - Agarwal, Ashok AU - Agarwal A