Genetic Association of PvuII & XbaI in ESR1 with the Risk of Breast Cancer in the North Indian Population: A Case-Control Study

Abstract

Background: Breast Cancer (BC) is the most prevalent cancer among women worldwide and is influenced by a combination of environmental and genetic factors. Among the genetic contributors, the estrogen receptor 1 (ESR1) gene and its associated polymorphisms, specifically XbaI and PvuII, have demonstrated variable risk patterns across different populations. 
Aim: This study aims to investigate the relationship between the XbaI and PvuII genetic variants of the ESR1 gene and the risk of developing BC in women from Haryana, North India. 
Methods: A total of 200 participants (100 cases and 100 controls) were enrolled. Blood samples were collected for DNA extraction and genotyping using PCR-RFLP with XbaI and PvuII enzymes. Statistical analyses, including t-tests and odds ratios (OR), were performed to assess the associations, with a significance threshold of p < 0.05. 
Results: The analysis revealed no significant age-related difference between the case and control groups (p > 0.05). Across all genetic models, the XbaI variant was not associated with BC risk. In contrast, the PvuII polymorphism showed significant associations in the dominant (OR = 2.0692; p = 0.0141) and over-dominant (OR = 1.9091; p = 0.0242) models, with a borderline trend in the allelic model (OR = 1.4839; p = 0.0605). 
Conclusion: The PvuII polymorphism is significantly associated with increased BC risk in this population, while no significant association was found for XbaI.