ABSTRACT
Background: tumor protein p53 [TP53] is a tumor suppressor transcriptional regulator protein which plays a critical role in the spermatogenesis. One of the most important regulators of p53 is Murine double minute 2 [MDM2], which acts as a negative regulator of the p53 pathway. Based on the key role of p53 and MDM2 in germ cell apoptosis, polymorphisms that cause a change in their function might affect germ cell apoptosis and the risk of male infertility
Objective: this study was designed to examine associations of TP53 72 Arg>Pro [rs1042522], and MDM2 309 T>G [rs937283] polymorphisms with spermatogenetic failure in Iranian population
Materials and Methods: a case-control study was conducted with 150 nonobstructive azoospermia or severe oligozoospermia and 150 fertile controls. The two polymorphisms, 72 Arg>Pro in TP53 and 309 T>G in MDM2, were genotyped using PCR-RFLP and ARMS-PCR respectively
Results: our analyses revealed that the allele and genotype frequencies of the TP53 R72P polymorphism were not significantly different between the cases and controls [p=0.41, p=0.40 respectively]. Also, no significant differences were found in the allelic [p=0.46] and genotypic [p=0.78] distribution of MDM2 309 T>G polymorphism between patients and controls
Conclusion: the results of this study indicate that polymorphisms of TP53 and MDM2 genes are unlikely to contribute to the pathogenesis of male infertility with spermatogenetic failure