Study of association the single nucleotide polymorphisms (rs6631) in 3′-UTR CGA gene with male infertility in Iranian population

Abstract

ObjectiveStudying the possible association between SNP (rs6631) residing in the miRNA-binding-site of spermatogenesis-related gene (CGA) with azoospermia male infertility in Iranian population was our purpose of this research. CGA has essential role in gonads function. SNP is located in the miRNA-binding site in 3′ untranslated region (3′-UTR) gene may lead to disruption of CGA and elevate the risk of male infertility. MethodsBlood samples were collected from different ethnicities and their DNA was extracted by using salting out method. Sixty-eight infertile men suffer from azoospermia and sixty-three fertile men were genotyped by Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) technique and some of them were sequenced randomly. Statistical analyses were performed to investigate the association between rs6631 and azoospermia. ResultsCGA-215AA genotype was significantly associated with azoospermia infertility. Logistic regression analysis of the genotype frequency between fertile and infertile men revealed significant difference (p < 0.05) in all models of inheritance except recessive model. The most genotype frequencies for T215A in our studied population was heterozygote genotype (T/A), it was same as the results in NCBI. hsa-miR-1302 and hsa-miR-557 bind to rs6631-A (mutant allele) more stably than rs6631-T, so CGA expression may be dysregulated. As a result, this SNP may elevate risk of male infertility. ConclusionOur results indicated that the mentioned polymorphism in CGA gene could be associated with azoospermia male infertility in Iran. Further studies are required to support the obtained result.