The association of −656T > G and 1349T > G polymorphisms of ApE1 gene and the risk of female infertility

Abstract

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. Human apurinic/apyrimidinic endonuclease 1 (ApE1) is a multifunctional protein that has an important role in the base excision repair pathway. The present study aimed to evaluate whether two functional ApE1 polymorphisms (−656T > G and 1349T > G) are associated with the susceptibility of female infertility. Blood samples were collected from 100 patients diagnosed with female infertility and 100 control subjects and genotyped by tetra-primer amplification refractory mutation system PCR (T-ARMS-PCR). The results indicated that individuals with the variant TG genotypes had a significantly increased risk of female infertility (p = 0.035, OR = 1.98, 95% CI = 1.04–3.74). Whereas, a significant association between 1349T > G polymorphism and female infertility risk was not observed (p = 0.1). Larger studies with more patients and controls are required to confirm the results.