Association between polymorphism of PRKDC and susceptibility to varicocele risk

Abstract

BackgroundVaricocele is characterized by high pressure and stasis in the vein of the testis. There is little knowledge about the molecular mechanisms underlying varicocele. One of the reasons of increased spermatozoa DNA damage in infertile varicocele patients is high concentrations of reactive oxygen species (ROS), which leads to DNA double-strand break (DSBs). The DNA non-homologous end joining repair gene PRKDC plays an important role in DSB repair pathway. Therefore, in this study, the association between genetic polymorphisms of PRKDC (rs.7003908) with varicocele susceptibility was evaluated. Methods and resultsA total of 213 men including 63 infertile varicocele men and 150 healthy controls were recruited. The healthy controls had no history of varicocele and they were matched with patients by age. The SNP genotyping analysis was performed by PCR-RFLP. The mutant homozygotes (TT) in patients had a significant effect on the risk of varicocele (OR = 2.31, 95% CI 0.97–5.12, P = 0.058) in comparison with GG. Further, the frequency of allele T in the varicocele group was significantly higher than the controls (OR = 2.19, 95% CI 1.41–3.38, P < 0.001); however, the heterozygous and homozygous genotypes (GT + TT) in the infertile varicocele patients had no significant difference (OR = 1.9, 95% CI 0.09–3.98, P = 0.089). ConclusionsOur results indicated that the TT genotype and T allele in the intronic region of PRKDC gene might increase the risk of developing varicocele.