Vitamin D-related genetic variants as predictive biomarkers for breast cancer in Jordanian women.

PMID 42292230 | PMCID PMC13253258 | DOI 10.3389/fmed.2026.1816935 · Frontiers in medicine · 2026

BACKGROUND: Vitamin D exerts a protective role in carcinogenesis by regulating signaling pathways implicated in tumor growth and progression. Variants in CYP2R1, CYP24A1, CYP27B1, and DBP have been reported to influence circulating 25(OH)D concentrations and provide evidence for a hypothesis that these polymorphisms may be associated with breast cancer risk by altering vitamin D metabolism and signaling. Therefore, the present study has been designed to assess the correlation of these gene polymorphisms with susceptibility to breast cancer. METHODS: A case-control study was encompassed, including 300 patients with breast cancer and 300 healthy controls. Genotyping of CYP2R1, CYP27B1, CYP24A1, and DBP polymorphisms was determined employing PCR-based restriction fragment length polymorphism (RFLP) assays. Each of the polymorphisms was assessed for association with breast cancer susceptibility using multiple statistical approaches. RESULTS: Significant associations were observed for CYP2R1 rs12794714 and CYP27B1 rs10877012, with the GG genotype of CYP2R1 and the TG genotype of CYP27B1 associated with a reduced risk of breast cancer. In contrast, no significant associations were observed for CYP2R1 rs10741657, CYP24A1 rs2248359, or DBP rs7041 and rs4588 variants. CONCLUSION: Our study suggests that certain genotypes in CYP2R1 and CYP27B1 might provide protective influences against the development of breast cancer in Jordanian females, although further studies are recommended to validate the results.