Association study between rs10966811 single nucleotide polymorphism of TUSC1 gene with oligospermia infertility in Iranian men

Abstract

Worldwide, 15% of couples are affected by infertility, with genetic factors accounting for about 10% of infertility causes. Single nucleotide polymorphisms can play preeminent role in this regard because variation in a nucleotide can cause diversity in the gene product and thus can act as a pathogenic mutation and lead to be infertile. Among the genes that can play a role in male infertility, the role of TUSC1 gene in oligospermia and azoospermia in men is also known and therefore to investigate and find out which single nucleotide polymorphisms in this gene lead to infertilityIn this study, the association of rs10966811 polymorphism in TUSC1 gene with oligospermia in Iranian men was investigated. Tetra-ARMS-PCR method was used for this study and during that, it was found that the two groups of patients and controls are genotypically different. In this way, three types of AA, AG and GG genotypes were seen among the samples, the frequency of which was 0.5, 0.5 and 0 in the control samples, respectively, and 0.02, 0.47 and 0.51 in the patient samples. In terms of HardyWeinberg equilibrium, the oligosperm group is in equilibrium but the control group is not in equilibrium. Also, the type of heritability of these genotypes based on the trait of sperm motility, regression analysis was significant and its heritability was also significant in Dominant and Overdominant conditions. Also, two types of ethnicities were examined from the samples, which were genotypically differentiated within the ethnicities, but there was no distinction between the two ethnicities. The study of the association of this polymorphism with infertility in the Iranian male population was performed for the first time.