Vitamin D receptor gene polymorphism and risk of skin cancer patients of Kashmiri population (India): A case-control study
Journal Title: Nasza Dermatologia Online - Year 2018, Vol 9, Issue 3
Abstract
Background: Vitamin D deficiency and Vitamin D Receptor (VDR) polymorphism, Fok1, is reported to be associated with the increased risk of several types of cancers through the regulation of various cancer related signaling pathways. We aimed to determine the effect of vitamin D deficiency and the association of Fok1VDR gene polymorphism with the risk of skin cancer in Kashmiri population. Material and Methods: A case-control study was conducted that include 68 histopathologically confirmed cases of skin cancer and 65 normal healthy controls from Kashmiri population. Vitamin D levels were estimated by automated chemiluminescent microparticle immunoassay. The Fok1 genotyping was done by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique followed by sequencing of amplified PCR products. Result: We detected (T/C) polymorphism in the first potential start (ATG) codon in exon 2 of VDR gene. The frequencies of CC, CT and TT genotypes among the cases were 33.82%, 47.06% and 19.11% while in controls genotypic frequencies were 53.84%, 38.46% and 7.7% respectively. A significant difference was observed in variant allele frequencies (CT+TT) between the cases and controls with odds ratio=2.283; 95%confidence interval=1.133-4.597 (P=0.02). Interestingly, the association of CT and TT genotype was observed statistically significant among the squamous cell carcinoma (SCC) (P<0.05) and insignificant among basal cell carcinoma (P>0.05). The plasma 25(OH)D levels were significantly low among the cases as compared to healthy controls (P<0.05). Conclusion: We found the possible role of vitamin D deficiency and Fok1 VDR polymorphism with the increased risk of skin cancer. The Fok1 polymorphism appears to be a strong risk factor for SCC development in Kashmiri population.
Authors and Affiliations
Jasiya Qadir
Keywords
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