Genotype and haplotype analysis between ESR1 variants and breast cancer in the Bangladeshi patients: A PCR-RFLP-based genetic association study

Abstract

Abstract Background Breast cancer is the most common cancer among Bangladeshi women, and its pervasiveness is increasing day by day. This case-control study attempted to determine the association between ESR1 polymorphisms and breast cancer susceptibility. Methods This study genotyped two ESR1 genetic variants (rs2234693 and rs9340799) in a total of 399 confirmed breast cancer patients (201 cases and 198 controls) by applying the PCR-RFLP method. SPSS software (v25.0) was used for statistical analysis, and SHEsis web program and Haploview (v4.2) were used for linkage disequilibrium and haplotype analyses, respectively. Results A statistically significant association of rs2234693 variant with grade 3 tumor (OR = 0.17, p = 0.0004) and rs9340799 variant with overweight (OR = 0.46, p = 0.034), infiltrating breast cancer (OR = 0.25, p < 0.0001), and positive lymph node status (OR = 2.34, p = 0.005) were observed. Again, rs2234693 variant was found to be significantly associated with breast cancer in codominant 1 (OR = 0.60, p = 0.045), codominant 2 (OR = 0.50, p = 0.021), dominant (OR = 0.56, p = 0.020), and allelic model (OR = 0.73, p = 0.028). In the case of rs9340799 variant, no significant link was observed for breast cancer. Haplotype analysis revealed a significant correlation of TA and CA haplotypes with breast cancer susceptibility (OR = 1.37, p = 0.028 and OR = 0.41, p = 0.0002, respectively). Besides, both rs2234693 and rs9340799 are found to be in strong linkage disequilibrium (D’=1.00, r2 = 0.697). Conclusions In this study, a significant correlation of ESR1 rs2234693 and rs9340799 genetic variants with breast cancer susceptibility has been observed. The findings of this study need to be investigated further to confirm the association.