Association of ApE1 gene Asp148Glu polymorphism and idiopathic male infertility

Despite enormous progress in the understanding of human reproductive physiology, the underlying cause of male infertility remains undefined in about 50.0% of cases, which are referred to as idiopathic infertility and affects about 5.0-7.0% of the general male population. Human apurinic/apyrimidinic endonuclease (ApE1) is a multifunctional protein that has an important role in the base excision repair (BER) pathway. ApE1 SNP T>G found in exon 5 led to substitution of Asp>Glu at codon 148. This study was done to evaluate the association of ApE1 Asp148Glu polymorphism and the risk of idiopathic male infertility. In this case-control study, blood samples were collected from 90 patients diagnosed with idiopathic male infertility and 90 healthy men, genotyped by Allele-Specific PCR (AS-PCR) method by using specific primers that were designed and the association between genotype and allele frequencies in cases and controls were estimated. There was no significant association between ApE1 gene polymorphism at codon 148 in case and control groups. No significant association was found between the Asp148Glu polymorphism and idiopathic male infertility.