Association of Carcinoma Breast with Vitamin D serum Levels and Polymorphism in Vitamin D receptorGene Apa1
Vit D & VDR Polymorphism in CA Breast
DOI:
https://doi.org/10.70384/jlmdc.v2i02.91Keywords:
Vitamin D Receptor, gene polymorphism, breast cancer, Single Nucleotide PolymorphismAbstract
Background: Breast cancer is the most common malignancy among women worldwide, and its incidence is increasing in South Asian populations, including Pakistan. While environmental and reproductive factors are well-recognized contributors, genetic susceptibility also plays a vital role. The vitamin D receptor (VDR) gene, particularly its ApaI single nucleotide polymorphism (SNP), has recently been explored for its possible involvement in cancer risk through altered vitamin D signaling.
Objective: To check the association between breast cancer, serum vitamin D levels, and polymorphism in the ApaI site of the VDR gene among Pakistani women.
Methodology: This cross-sectional comparative study included 115 healthy controls and 95 histologically confirmed breast cancer patients. Serum 25(OH) vitamin D levels were measured, and VDR ApaI genotyping was carried out using Polymerase Chain Reaction–Restriction Fragment Length Polymorphism (PCR–RFLP) analysis. Data were entered and analyzed using IBM Statistical Package for the Social Sciences (SPSS) version 21.
Results: The mean serum vitamin D level in all study subjects was 25.65 ± 13.45 ng/ml. Breast cancer patients had significantly lower levels (22.16 ± 7.95 ng/ml) than controls (29.82 ± 17.1 ng/ml). The “Aa” and “aa” genotypes of the ApaI polymorphism were more frequent among cases. In the dominant model, carriers of Aa or aa genotypes had about a twofold higher risk of breast cancer (adjusted OR = 2.03, 95% CI: 1.07–3.86; p = 0.02). Moreover, breast cancer patients with the “Aa” genotype showed markedly lower vitamin D levels (p < 0.001).
Conclusion: Low serum vitamin D levels and the ApaI polymorphism in the vitamin D receptor (VDR) gene are significantly associated with breast cancer in Pakistani women.
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