Association of Genetic Variants in hOGG1 and APE1 Genes with Breast Cancer Risk in a Rural Population: A Hospital Based Case-Control Study

Abstract

Background: Breast Cancer (BC) is a major concern of health risk in urban and rural areas of India. Aim and Objectives: This study was aimed to find out the frequency of polymorphisms in DNA repair genes, human 8-oxoguanine DNA glycosylase 1 (hOGG1) at codon (cd) 326 and Apurinic/apyrimidinic endonuclease 1 (APE1) at cd 148 in patients of BC from Maharashtra and to evaluate their association with BC development. Material and Methods: We used Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) to examine gene polymorphisms in 170 patients with BC and 200 in age and sex matched disease-free controls. Results: The results indicated that there was no significant difference in the genotype distribution between BC patients and controls for hOGG1 (p>0.05). The result showed that allele frequencies of APE1 Glu148 (OR=4.78; 95% CI= (2.55-8.95); p= <0.0001) genotype significantly increased the risk of BC. Conclusion: This study indicates that polymorphisms in cd148 of APE1 gene could play a role in modifying genetic susceptibility of individual to breast cancer in Maharashtrian patients.

Keywords

• Breast Cancer
• Genetic Polymorphism
• human 8-oxoguanine DNA glycosylase 1
• Apurinic/apyrimidinic endonuclease 1
• Polymerase Chain Reaction-Restriction Fragment Length Polymorphism