The association of ApE1 gene Asp148Glu polymorphism and breast cancer risk in Guilan population

Abstract

Abstract Background: Breast cancer is the most common cancer and one of the main causes of cancer-related death all over the world that has become a major public health concern. Human apurinic/apyrimidinic endonuclease (ApE1) is a multifunctional protein that has an important role in the base excision repair (BER) pathway. Single- nucleotide polymorphism T>G found in exon 5 led to substitution of Asp>Glu at codon 148 (Asp148Glu). In this case-control study, we aimed to evaluate the association of this polymorphism on the risk of breast cancer in Guilan population. Materials and Methods: To study gene polymorphism APE1 (Case- Control), blood samples were collected from 75 patients diagnosed with breast cancer and 75 control subjects, and genotyped by allele-specific PCR (AS-PCR). To estimate the association between genotype and allele frequencies in cases and controls, Chi-Square (χ2) analysis was used. Results: Analysis revealed no significant differences were found in genotype and allele distributions of ApE1 Asp148Glu polymorphism between breast cancer patients and controls (p=0.1, p=0.6 respectively) in this population. Conclusion: Data from this study indicated no significant association between the Asp148Glu polymorphism and breast cancer risk (p=0.1). Further study needed to clarify the impact of Asp148Glu polymorphism on the breast cancer.

Keywords

• ApE1
• Breast Cancer
• Polymorphism