Association of TNFR1 gene polymorphism and idiopathic male infertility

Aim: Infertility is the failure of a couple to engender after endeavoring at least one year of unprotected intercourse. male factor infertility accounts for approximately 50 percent of causes. Tumor necrosis factor-α (TNFα) is a multifunctional cytokine. TNF-α plays important role in the regulation of cellular processes related to spermatogenesis. There are two variants of the cell receptors that interacts with TNF-α. In the present study, the association of TNFR1 36A/G polymorphisms with idiopathic male infertility in the Guilan population was studied.
This study consists of 106 infertile men and 114 fertile men as control group. Blood samples were taken and genomic DNA was extracted. Then genotypes and allele frequencies were assessed by PCR-RFLP method and the statistical analysis was performed by MedCalc software.
The frequencies of AA, AG, GG genotypes in patients were 41.5%, 7.5% and 50.9%, respectively and in controls were 45.6%, 33.3%, and 21.1%, respectively. The frequencies of A and G in patients were 0.45 and 0.55, respectively and in controls were 0.62 and 0.38, respectively. The results showed that there is a significant association between genotype frequency (p= 0.002) and allele frequency (p= 0.0004) in infertile and control groups.
In conclusion, the subjects with G allele and GG genotype appears to be at greater risk of developing idiopathic infertility in Guilan province. Further studies with larger numbers of patients are required to elucidate the potential role of TNFR1 polymorphism in male infertility.