title: 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.
authors.affiliation: a Department of Biology, Faculty of Sciences , University of Guilan , Rasht , Iran.
authors.forename: Farhad
authors.initials: F
authors.lastname: Mashayekhi
authors.affiliation: a Department of Biology, Faculty of Sciences , University of Guilan , Rasht , Iran.
authors.forename: Mostafa
authors.initials: M
authors.lastname: Yousefi
authors.affiliation: a Department of Biology, Faculty of Sciences , University of Guilan , Rasht , Iran.
authors.forename: Zivar
authors.initials: Z
authors.lastname: Salehi
authors.affiliation: a Department of Biology, Faculty of Sciences , University of Guilan , Rasht , Iran.
authors.forename: Mostafa
authors.initials: M
authors.lastname: Pournourali
mesh_terms: D000328:Adult; D016022:Case-Control Studies; D043603:DNA-(Apurinic or Apyrimidinic Site) Lyase / Q000097:blood / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007247:Infertility, Female / Q000097:blood / Q000235:genetics*; D011110:Polymorphism, Genetic; D012307:Risk Factors
chemical_list: C085108:APEX1 protein, human; D043603:DNA-(Apurinic or Apyrimidinic Site) Lyase
keywords: ApE1; BER; female infertility; gene polymorphism