RESUMEN
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
RESUMEN
Background: tumor necrosis factor-alpha [TNF-alpha] is a multifunctional cytokine that regulates different cellular activities related to spermatogenesis. Tumor necrosis factor-alpha receptor 1 [TNFR1] mediates TNF-alpha activity and polymorphism in TNFR1 could lead to gene dysfunction and male infertility
Objective: the aim of this study is to determine the association of TNFR1 36 A/G polymorphism with the idiopathic azoospermia in Iranian population
Materials and Methods: this case-control study included 108 azoospermic and 119 fertile men. This research investigated the frequency of TNFR1 36 A/G polymorphism in cases who were idiopathic azoospermic men referred to Yazd Research and Clinical Center for Infertility, Iran in comparison with controls. polymerase chain reaction- restriction fragment length polymorphism [PCR-RFLP] method was used to investigate the polymorphism in both case and control groups. PCR fragments were digested by Mspa1I enzyme and products were appeared by gel electrophoresis. The abundance of A?G was calculated in the azoospermic and healthy men
Results: according to the present study, GG and AG genotypes frequency in the azoospermic men group were higher than the control group [OR= 2.298 [1.248-4.229], p=0.007], [OR=1.47 [0.869-2.498, p=0.149]. Our findings also showed that G allele frequency in azoospermic men had significant difference compared to the control group [OR=2.302 [1.580-3.355], p<0.001]
Conclusion: it seems that the GG genotype and G allele have an association with increased risk of non-obstructive azoospermia