• PMID: 25505202
• Gene Name: NOS3
• Condition: Male infertility, Idiopathic asthenozoospermia
• Association: The results of the meta-analysis support the conclusion that the T-786C and 4a4b loci were associated with male infertility in both Asian and Caucasian populations. Our study provides genetic evidence for the eNOS gene being a risk factor for idiopathic A
• Mutation: eNOS gene variants (T-786C, 4a4b, and G894T)
• Population size: 682
• Population details: 682 (340 Chinese idiopathic AZS patients, 342 healthy men)
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Male infertility, Idiopathic asthenozoospermia

Endothelial nitric oxide synthase (eNOS) T-786C, 4a4b, and G894T polymorphisms and male infertility: study for idiopathic asthenozoospermia and meta-analysis

Song P, Zou S, Chen T, Chen J, Wang Y, Yang J, Song Z, Jiang H, Shi H, Huang Y, Li Z, Shi Y, Hu H.

Recent studies on the eNOS gene and male infertility show that expression of eNOS regulates normal spermatogenesis in the testis, and the eNOS gene variants (T-786C, 4a4b, and G894T) are potentially involved in impairment of spermatogenesis and sperm function. Thus, we conducted this association and meta-analysis study to further validate whether variants of those three loci affected the risk of idiopathic asthenozoospermia (AZS) and male infertility. Approximately 340 Chinese idiopathic AZS patients and 342 healthy men were included for this case-control study, genotyped by gel electrophoresis analysis or direct sequencing of PCR products. The eNOS mRNA isolated from the semen of patients was further examined by quantitative real-time PCR. Also, a meta-analysis of association between eNOS gene polymorphisms and male infertility was performed. A significant association was identified on allelic level between 4a4b variant and AZS in our study (chi-squared = 7.53, corrected P = 0.018, odds ratio (OR) = 1.808), while there were no significant difference of T-786C and G894T for asthenozoospermia in both genotype and allele distributions. In addition, expression of eNOS was up-regulated in patients compared with controls (about 2.4-fold, P < 0.001). Furthermore, the results of the meta-analysis support the conclusion that the T-786C and 4a4b loci were associated with male infertility in both Asian and Caucasian populations. Our study provides genetic evidence for the eNOS gene being a risk factor for idiopathic AZS and male infertility. Considering genetic differences among populations and complex pathogenesis of male infertility, more validating studies using independent samples are suggested in the future. CI - © 2015 by the Society for the Study of Reproduction, Inc. FAU - Song, Pingping AU - Song P AD - Department of Urology, Renji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, P.R. China. FAU - Zou, Shasha AU - Zou S AD - Department of Urology, Renji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, P.R. China. FAU - Chen, Tingting AU - Chen T AD - Department of Urology, Renji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, P.R. China. FAU - Chen, Jianhua AU - Chen J AD - BIO-X Center, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education), Shanghai Jiao Tong University, Shanghai, Peoples Republic of China. FAU - Wang, Yanan AU - Wang Y AD - Department of Urology, Renji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, P.R. China. FAU - Yang, Juanjuan AU - Yang J AD - BIO-X Center, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education), Shanghai Jiao Tong University, Shanghai, Peoples Republic of China. FAU - Song, Zhijian AU - Song Z AD - BIO-X Center, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education), Shanghai Jiao Tong University, Shanghai, Peoples Republic of China. FAU - Jiang, Huayu AU - Jiang H AD - School of Medicine, Tongji University, Shanghai, Peoples Republic of China. FAU - Shi, Huijuan AU - Shi H AD - Shanghai institute of planned parenthood research, Shanghai, Peoples Republic of China. FAU - Huang, Yiran AU - Huang Y AD - Department of Urology, Renji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, P.R. China. FAU - Li, Zheng AU - Li Z AD - Department of Urology, Renji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, P.R. China. FAU - Shi, Yongyong AU - Shi Y AD - BIO-X Center, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education), Shanghai Jiao Tong University, Shanghai, Peoples Republic of China.