• PMID: 28466478
• Gene Name: NOS3
• Condition: Idiopathic oligoasthenozoospermia, Male infertility
• Association: Associated
• Mutation: 4a/4b
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Idiopathic oligoasthenozoospermia, Male infertility

NOS3 gene variants and male infertility: Association of 4a/4b with oligoasthenozoospermia

Vu?i? NLJ, Nikoli? ZZ, Vukoti? VD, Tomovi? SM, Vukovi? II, Kanazir SD, Savi?-Pavi?evi? DLJ, Braju�kovi? GN.

Results of recent studies confirmed that oxidative stress negatively affects sperm motility and causes sperm DNA damage. Produced by nitric oxide synthase 3 (NOS3), nitric oxide is considered to be one of the important mediators of oxidative stress in testis tissue. The aim of this study was to assess the possible association of three genetic variants (rs2070744, rs1799983 and intron variant 4a/4b) in NOS3 gene and infertility occurrence in two groups of infertile men (idiopathic azoospermia and oligoasthenozoospermia) and fertile controls. Genotypes for the single-nucleotide genetic variants rs1799983 and rs2070744 were determined by PCR-RFLP, while genotyping of intron 4 variant 4a/4b was performed by gel electrophoresis of PCR products. Statistical analysis was performed by SNPStats software. No significant association between the three genetic variants of the NOS3 gene and infertility risk was determined comparing allele and genotype frequencies among group of patients diagnosed with azoospermia and the control group. Nevertheless, there was a significant positive association between 4a/4b and infertility in the group of males diagnosed with oligoasthenozoospermia, under overdominant genetic model. Our findings suggest that tandem repeat variant within intron 4 of the NOS3 gene is associated with an increased risk of infertility in men diagnosed with idiopathic oligoasthenozoospermia. CI - © 2017 Blackwell Verlag GmbH. FAU - Vučić, N L J AU - Vučić NLJ AUID- ORCID: 0000-0003-2231-0301 AD - Center for Human Molecular Genetics, Faculty of Biology, University of Belgrade, Belgrade, Serbia. FAU - Nikolić, Z Z AU - Nikolić ZZ AD - Center for Human Molecular Genetics, Faculty of Biology, University of Belgrade, Belgrade, Serbia. FAU - Vukotić, V D AU - Vukotić VD AD - Special Urology Ordination "TTC", Belgrade, Serbia. FAU - Tomović, S M AU - Tomović SM AD - Special Urology Ordination "Urologija Vuk", Belgrade, Serbia. FAU - Vuković, I I AU - Vuković II AD - Urological Clinic, Clinical Center of Serbia, Belgrade, Serbia. FAU - Kanazir, S D AU - Kanazir SD AD - Institute for Biological Research "Siniša Stanković", University of Belgrade, Belgrade, Serbia. FAU - Savić-Pavićević, D L J AU - Savić-Pavićević DLJ AD - Center for Human Molecular Genetics, Faculty of Biology, University of Belgrade, Belgrade, Serbia.