The Association study of eNOS 4a/b and G1190T variant with Iranian male infertility: A case-control study and computational analysis

This study aims to evaluate the association of Endothelial Nitric Oxide Synthase (eNOS) 4a/b and G1190T polymorphisms with male infertility using a case-control study followed by an in-silico analysis in an Iranian population. This case-control study was conducted on 150 infertile and 155 fertile men as control subjects. The eNOS 4a/b polymorphism was detected using PCR. For G1190T, the PCR fragments were digested with the BanII restriction enzyme. Statistical analysis was done using SPSS Statistics V20. There was a significant difference between infertile and fertile groups in the frequency of the a allele (p = 0.046). In addition, the mentioned allele caused an increase in the risk of idiopathic infertility in the dominant model (p = 0.040). A significant increase occurred in the frequency of the T allele of the G1190T variant in the case group compared to the fertile subjects. In addition, a significant increase occurred in the risk of infertility in the dominant model (p = 0.020). According to bioinformatics analysis results, G1190T substitution altered the splicing pattern of eNOS mRNA as well as the secondary structure of the eNOS protein in some local regions. The present study revealed the significant association of eNOS G1190T and 4a/b gene variants with infertility phenotypes in Iranian men.