Abstract

Infertility remains a major global problem, affecting 10–15 of couples worldwide, with half of the cases due to male factors. Protamines, found only in the testes, are essential for sperm chromatin condensation and paternal genome imprinting during spermatogenesis. Seventy testicular samples from infertile men were analyzed for the expression level of PRM1 and PRM2. 448 infertile males were additionally examined for PRM1 and PRM2 polymorphism. There was a significant association of rs2070923 polymorphism of PRM2 in both additive and recessive models (OR (95 CI) 1.320.92; 1.88, p = 0.023 and 2.261.12; 4.57, p = 0.017, respectively). The TT genotype of rs2070923 PRM2 was also correlated with lower gene expression of PRM2 in the infertile group (p = 0.03). Moreover, our result showed that the frequency of GTCT haplotype was higher than average in azoospermic patients (OR = 2.67; 95%CI = 1.17–2.53; p = 0.041) and that gene-gene interaction played a role in male infertility. The linkage disequilibrium plot showed that rs2301365 was strongly associated with rs2070923. For the first time, we reported a significant haplotype of PRM1 and PRM2 genes associated with male infertility in Iranian population. These results are likely to contribute to a better understanding of the causes of male infertility. © 2023 Elsevier B.V.