IL-1ɑ C376A Transversion Variant and Risk of Idiopathic Male Infertility in Iranian Men: A Genetic Association Study

Objective IL-1α produces by sertoli cells and considered as a growth factor for spermatogonia. In this study we investigated the association of C376A polymorphism in IL-1α gene with male infertility in men referring to Kashan IVF center which followed by an in silico approach. MaterialsAndMethods In a case-control study, 2 ml blood was collected from 230 fertile and 230 infertile men. After DNA extraction, genotypes of samples at C376A location were determined by PCR-RFLP method. In addition, some bioinformatics tools was employed to analyze the molecular effects of C376A transversion. Results The data showed a significant association of homozygous genotype CC with male infertility (OR= 1.97, 95%CI= 1.14-3.41, p= 0.016). Carriers of C (AC+CC) were at a high 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 subgroup analysis, we found that the AC genotype is associated with asthenospermia (OR= 2.38, 95%CI=1.03-5.53, p= 0.043). In addition, carriers of C were at high risk for asthenospermia (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 =1.00-2.06, p= 0.049) and non-obstructive azoospermia (OR= 1.67, 95%CI =1.04-2.68, p= 0.034). Finally, in silico analysis revealed that C376A polymorphism could alter splice sites pattern especially in acceptor sites. Conclusion This is the preliminary report on the association of the IL-1α C376A polymorphism with male infertility that done in men population of Kashan. This association shows that the IL-1α C376A transversion may be a biomarker for male infertility, and it needs to complementary investigations in future studies.