Association of HSPA1B rs6457452 Genetic Variant with Idiopathic Male Infertility

Abstract

Abstract Background: Male infertility is a multifactorial disease resulting from the interaction between the genetic and environmental factors. Spermatogenic Failure accounts for more than half of male infertility cases. Heat shock proteins (HSPs) are the molecular chaperones that are involved in different developmental stages of spermatogenesis. The current study was planned to investigate the role of HSPA1B rs6457452 genetic variants in male infertility. Material and Methods: This case control study was conducted on 516 subjects consisted of 308 patients with idiopathic male infertility and 208 control subjects. After DNA extraction from peripheral blood, genotype determination was done by Tetra-ARMS PCR method. Logistic regression analysis was used to estimate the association between the polymorphism and male infertility. Results: A significant difference was observed in genotype distributions between cases and controls. Results showed individuals with TC (OR=1.552, 95%CI: 1.032-2.334, p=0.035) and TT (OR=2.746, 95%CI: 1.153-6.545, p=0.023) genotype had an increased risk of male infertility. Also, there was a significant association between T allele (OR=1.695, 95%CI: 1.220-2.355, p<0.001) and male infertility. Conclusion: This study showed for the first time that HSPA1B rs6457452 polymorphism is associated with infertility risk in Iranian men and the T allele may act as a dominant allele for increasing the risk of male infertility.

Keywords

• Heat shock protein
• Idiopathic
• Male infertility
• Polymorphism