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Genotype and Haplotype Analysis Between ESR1 Variants and Breast Cancer in the Bangladeshi Patients: A PCR‐RFLP‐Based Genetic Association Study

Year: 2025

Type: article

Abstract: ABSTRACT Background and Aims Breast cancer (BC) is the most often diagnosed malignancy in women. The genetic factor is estimated to be responsible for the higher BC risk. BC development is thought to be closely linked to the ESR1 gene, which controls cell division and proliferation. Nevertheless, no research has been performed to investigate the relationship between this gene and Bangladeshi women's BC risk. Therefore, 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 participants (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. The rs2234693 variant was also significantly associated with breast cancer in various models, including 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, r 2 = 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 with larger sample sizes to confirm the association. A detailed investigation of understanding the functional role of polymorphisms is also required.

Source: Health Science Reports

DOI: 10.1002/hsr2.71622