• PMID: 24444339
• Gene Name: NOS3
• Condition: Male infertility, Female infertility
• Association: The presence of at least 1 Ala-MnSOD allele (rs4880) increased significantly the risk of infertility in male subjects. Moreover, the presence of 2 G-eNOS allele (rs1799983) increased significantly the risk of infertility in both men and women
• Mutation: rs4880, rs1799983
• Population size: 179
• Population details: 179 (110 infertile (58 women, 52 men))
• Sex: Male, Female
• Infertility type: Male infertility, Female infertility
• Other associated phenotypes: Male infertility, Female infertility

Are superoxide dismutase 2 and nitric oxide synthase polymorphisms associated with idiopathic infertility?

Faure C, Leveille P, Dupont C, Julia C, Chavatte-Palmer P; Alifert Group, Sutton A, Levy R.

The aim of this study was to investigate in a case-control study the associations between idiopathic infertility and antioxidant gene polymorphisms. One hundred ten infertile subjects (58 women and 52 men) with a history of idiopathic infertility and 69 fertile subjects (35 women and 34 men) with no history of infertility were included by three hospital departments of reproductive biology in the NCT01093378 French government clinical trial. Genotyping was assessed by real-time polymerase chain reaction with TaqMan assay. We examined genetic polymorphisms affecting five antioxidant enzymes: manganese superoxide dismutase (MnSOD), myeloperoxidase (MPO), glutathione peroxidase 1 (GPx1), catalase (CAT), and endothelial nitric oxide synthase (eNOS). The presence of at least 1 Ala-MnSOD allele (rs4880) increased significantly the risk of infertility (odds ratio [OR] 2.94; 95% confidence interval [CI], 1.14, 7.60; p=0.03) in male subjects. Moreover, the presence of 2 G-eNOS allele (rs1799983) increased significantly the risk of infertility in both men and women (OR 1.91; 95% CI, 1.04, 3.54; p=0.04). Our observations lead to the hypothesis that the genetic susceptibility modulating oxidative stress may represent a risk factor for male idiopathic infertility. FAU - Faure, Celine AU - Faure C AD - 1 Service d'Histologie-Embryologie-Cytogénétique-CECOS, Hôpital Jean Verdier , AP-HP, Bondy, France . FAU - Leveille, Pauline AU - Leveille P FAU - Dupont, Charlotte AU - Dupont C FAU - Julia, Chantal AU - Julia C FAU - Chavatte-Palmer, Pascale AU - Chavatte-Palmer P CN - Alifert Group FAU - Sutton, Angela AU - Sutton A