Frequency of TNFR1 36 A/G gene polymorphism in azoospermic infertile men: A case-control study.

BACKGROUND: Tumor necrosis factor-alpha ( TNF -α) is a multifunctional cytokine that regulates different cellular activities related to spermatogenesis. Tumor necrosis factor-alpha receptor 1 ( TNFR1 ) mediates TNF -α 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.