RESUMO
Background: IL-1alpha produced by Sertoli cells is considered to act as a growth factor for spermatogonia. In this study, we investigated the association of the C376A polymorphism in IL-1alpha with male infertility in men referring to the Kashan IVF Center
Materials and Methods: In this case-control study, 2 ml of blood was collected from 230 fertile and 230 infertile men. After DNA extraction, the C376A variant was genotyped by polymerase chain reaction-restriction fragment length polymorphism [PCR-RFLP]. In addition, the molecular effects of the C376A transversion were analysed using bioinformatics tools
Results: A significant association was observed between the homozygous genotype CC with male infertility [odds ratio [OR]=1.97, 95% confidence interval [CI]=1.14-3.41, P=0.016]]. Carriers of C [AC+CC] showed a similar risk for male infertility [OR=1.78, 95% CI=1.06-2.99, P=0.030]. Also, allelic analysis showed that the C allele is associated with male infertility [OR=1.43, 95% CI=1.09-1.88, P=0.011]. In sub-group analysis, we found that the AC genotype is associated with asthenozoospermia [OR=2.38, 95% CI=1.03-5.53, P=0.043]. In addition, carriers of C were at high risk for asthenozoospermia [OR=2.25, 95% CI=1.01-4.10, P=0.047]. Also, C allele was significantly associated with oligozoospermia [OR=1.44, 95% CI=1.01-2.06, P=0.049] and non-obstructive azoospermia [OR=1.67, 95% CI =1.04-2.68, P=0.034]. Finally, in silico analysis showed that the C376A polymorphism could alter splicing especially in the acceptor site
Conclusion: This is the preliminary report on the association of IL-1alpha C376A polymorphism with male infertility in the Kashan population. This association shows that the IL-1alpha gene may be a biomarker for male infertility, and therefore needs additional investigations in future studies to validate this