Association Between Prohibitin 3'UTR Gene Polymorphisms and Breast Cancer Susceptibility in the Western Chinese Population

Background Breast cancer incidence continues to rise globally, maintaining its position as the second leading cancer. Despite therapeutic advances, enhancing early screening and personalized treatment remains critical. However, population-based studies on PHB 3'-UTR polymorphisms and breast cancer risk show conflicting results, with limited data available from Western China. Methods Using bioinformatics approaches, we investigated the association of the prohibitin (PHB) gene with overall survival (OS) and recurrence-free survival (RFS) in breast cancer and its molecular subtypes through TCGA database. Eight SNP loci were screened from the NCBI, GVS, dbSNP, and ENSEMBLE databases. Blood samples were collected from breast cancer patients and genomic DNA was extracted from peripheral blood. PCR amplification was performed using specifically designed primers, followed by gene sequencing to determine allele frequencies, mutation profiles, and their association with breast cancer susceptibility. Results A total of 185 breast cancer patient samples and 195 healthy female control samples were collected. Eight PHB SNP loci were identified through database screening: rs6917, rs1049620, rs4987083, rs9893420, rs112294663, rs73324369, rs551909229, and rs147506726. Sequencing analysis revealed rs6917 have Heterozygous GA and homozygous AA variants (consistent with database records), allele frequencies of G and A are 0.862 and 0.138 respectively, but no significant association with breast cancer susceptibility was found (GA: OR = 0.813, 95% CI : 0.503–1.314; AA: OR = 2.043, 95% CI : 0.502–8.327, p  = 0.39), For rs1049620, there are two Heterozygous TC and homozygous CC variants, Allele frequencies of T/C are 0.516 and 0.418 respectively, but no significant association with breast cancer susceptibility was observed(TC: OR = 1.198 (95% CI : 0.740–1.940; CC: OR = 1.067 (95% CI : 0.597–1.906; p  = 0.75). No mutations were detected in the remaining six SNP loci examined. Conclusion In Western China, the peak incidence age of breast cancer in females occurs earlier than the second typical onset peak (55 years). High expression of PHB is associated with a poorer prognosis in breast cancer. Genetic polymorphisms in the 3'-UTR region of the prohibitin (PHB) gene exhibit multiple mutation variants. However, our study demonstrates that none of the eight selected SNP loci show statistically significant associations with breast cancer risk in the Western Chinese female population.