Association of Vitamin D Receptor Gene Polymorphisms with Prostate Cancer Risk in the Pakistani Population

Abstract

<b>Background:</b> Vitamin D receptor (VDR) gene has been a subject of extensive pharmacogenetic researchrecently. Association studies between different types of cancers including prostate cancer (PCa) and VDR genepolymorphism have also been conducted. The objective of this study was to find possible associations betweenPCa and VDR gene polymorphisms in the Pakistani population. Materials and <br/><b>Methods</b>: A total of 162 subjects,including prostate cancer patients and controls, were genotyped for Apa I, Taq I and Fok I polymorphisms inthe VDR gene using allele specific PCR, PCR-RFLP and direct DNA sequencing. Allelic frequencies were testedfor Hardy-Weinberg equilibrium and associations between the genetic markers and PCa were calculated usinglogistic regression. <br/><b>Results</b>: Apa I CC genotype was found to have strongest association with PCa risk, and “A”genotype was found to have protective effect. Fok I and Taq I did not have appreciable levels of association withPCa, although Taq I “TC” heterozygotes seemed to have some protective effect. Similarly the “C” allele of Fok Ialso seemed to have protective effect. <br/><b>Conclusions</b>: To our knowledge, this is the first report showing associationbetween VDR gene polymorphisms and PCa in Pakistan. Our findings may be somewhat skewed because ofsmall sample size and tendency of consanguineous marriages in Pakistani society; nevertheless, it shows thetrend of association and protective effects of certain VDR gene polymorphisms against PCa.