• PMID: 25917483
• Gene Name: APEX1
• Condition: Idiopathic male infertility
• Association: The data suggests that the -656T>G ApE1 polymorphism may be associated with increased risk of idiopathic male infertility.
• Mutation: ApE1 (-656T>G and 1349T>G)
• Population size: 300
• Population details: 300 (180 patients diagnosed with idiopathic male infertility, 120 controls)
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Idiopathic male infertility

The association of ApE1 -656T>G and 1349T>G polymorphisms and idiopathic male infertility risk

Yousefi M, Salehi Z, Mashayekhi F, Bahadori MH.

PURPOSE: In spite of variety studies in understanding of human reproductive and fertility, the underlying causes of male infertility remains undefined in about 50 % of cases. The polymorphism studies have a crucial role in diseases recognizing. Human apurinic/apyrimidinic endonuclease 1 (ApE1) is a multifunctional protein that has an important role in the base excision repair pathway. The present study was aimed to evaluate whether two polymorphisms -656T>G and 1349T>G ApE1 are related with the susceptibility to idiopathic male infertility. METHODS: Samples were collected from 180 patients diagnosed with idiopathic male infertility and 120 control subjects and genotyped by tetra-primer amplification refractory mutation system PCR. RESULTS: We observed a significant difference in genotype distributions of -656T>G ApE1 polymorphism between infertile patients and controls (P = 0.0001). Our findings indicated individuals with the variant TG genotypes had a significant increased risk of idiopathic male infertility (OR 1.84, 95 % CI 1.09-3.11, P = 0.021), whereas the significant association between the 1349T>G polymorphism and idiopathic male infertility risk was not observed (P = 0.2). CONCLUSIONS: Our data suggest that the -656T>G ApE1 polymorphism may be associated with increased risk of idiopathic male infertility. Larger studies with more patients and controls are needed to confirm the results. FAU - Yousefi, Mostafa AU - Yousefi M AD - Department of Biology, Faculty of Sciences, University of Guilan, P.O. Box 1914, Rasht, Iran. FAU - Salehi, Zivar AU - Salehi Z FAU - Mashayekhi, Farhad AU - Mashayekhi F