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अमूर्त

Correlating Vitamin D receptor Gene Polymorphism in Vitamin D Deficient Premenopausal Pakistani Females via PCR/RFLP and Breast Cancer Risk

Bushra Wasim and Khalid M Khan

Objective: Vitamin D due to its non-proliferative, non-angiogenic properties which are the hallmarks of some cancers like breast, colon, lung and prostate has changed the direction of Research towards finding out the association of Vitamin D deficiency, VDRGP and breast cancer.

Methods: Asymptomatic, pre-menopausal women (20 to 40 years) were inducted for VDR gene polymorphism. PCR –RFLP for Fok1 and Apa1 was done. Serum vitamin D levels were done twice before and after supplementation.

Results: Women (n=294) with minimum age of 20 and maximum age of 40 were inducted. Shapiro-Wilk normality test was done. The data was non-parametric. The mean ± SD (30.6 ± 6.01) median and IQR were also computed. The median age was 30 years and IQR for age was 10.33 The mean ± SD of Vitamin D baseline was 9.87 ± 7.29 and 7 (6.63) as IQR. Both genes Fok1 and Apa1 were prevalent in the population. The p-values i.e., 0.58 & 0.259 showed that there was no significant mean difference observed in vitamin D at baseline level for Fok1 PCR and Apa1 PCR. Similarly, Fok1 & Apa1 RFLP showed no statistically significant difference in the mean values of vitamin D at baseline level; p-values were 0.759 and 0.44 respectively.

Conclusion: VDR genotypes vary widely. There was equal distribution of Fok1 and Apa1 genes. The important observation was the absence of homozygous group in Apa1. In comparison to other studies both Fok1 and Apa1 were not significantly related to vitamin D deficiency, which concludes that VDR gene polymorphism is not significantly related to breast cancer.