• PMID: 29968322
• Gene Name: IL1A
• Condition: Idiopathic male infertility
• Association: Associated
• Mutation: 4845G>T
• Population size: 460
• Population details: 460 (230 infertile, 230 healthy men)
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Idiopathic male infertility

IL-1RA VNTR and IL-1? 4845G>T polymorphisms and risk of idiopathic male infertility in Iranian men: A case-control study and an in silico analysis

Zamani-Badi T, Nikzad H, Karimian M.

This study aimed to investigate the association of IL-1RA VNTR and IL-1α 4845G>T polymorphisms with idiopathic male infertility followed by an in silico analysis. In a case-control study, we collected blood samples from 230 infertile and 230 healthy men. Genotyping of IL-1RA VNTR was performed by PCR whereas IL-1α 4845G>T was genotyped by polymerase chain reaction-restriction fragment length polymorphism. An in silico approach was employed for the detection of IL-1RA VNTR and IL-1α 4845G>T effects on some molecular aspects of IL-1RA and IL-1α respectively. The result of our genetic association study for IL-1α 4845G>T revealed that there was a significant association between GT genotype, TT genotype, T allele and idiopathic male infertility. Although there was no significant association between IL-1RA VNTR and male infertility in the overall analysis. However, subgroup analysis revealed that the subjects with VNTR 4R/5R genotype were at a higher risk of oligozoospermia. Furthermore, 4845TT genotype, and 4845T allele were associated with oligozoospermia, asthenozoospermia and nonobstructive azoospermia. Bioinformatics analysis showed that IL-1RA VNTR may affect the splicing pattern of IL-1RA. Moreover, IL-1α 4845G>T has a significant effect on RNA structure and protein function. Based on our findings, both IL-1RA VNTR and IL-1α 4845G>T polymorphisms could be considered as potential biomarkers for screening of susceptible individuals. CI - © 2018 Blackwell Verlag GmbH. FAU - Zamani-Badi, Tayyebeh AU - Zamani-Badi T AD - Gametogenesis Research Center, Kashan University of Medical Sciences, Kashan, Iran. FAU - Nikzad, Hossein AU - Nikzad H AUID- ORCID: 0000-0002-1454-7977 AD - Gametogenesis Research Center, Kashan University of Medical Sciences, Kashan, Iran.