Association of Vitamin D Receptor Gene Polymorphisms with Colon Cancer

Gunduz M., Cacina C., Toptas B., Yaylim-Eraltan I., Tekand Y., Isbir T.

GENETIC TESTING AND MOLECULAR BIOMARKERS, vol.16, no.9, pp.1058-1061, 2012 (SCI-Expanded) identifier identifier identifier


Objective: In this study, we investigated the association of two vitamin D receptor (VDR) polymorphisms BsmI and TaqI with colon cancer in a Caucasian population. Methods: The VDR gene polymorphisms BsmI and TaqI were detected by polymerase chain reaction (PCR), restriction fragment length polymorphism (RFLP)-genotyping assays by using endonucleases BsmI and TaqI, and an agarose gel electrophoresis technique in a series of 43 colon cancer patients and 42 healthy controls. Results: Allele frequencies and genotype distributions were found to be similar in both cases and controls. When homozygous carriers and heterozygotes were combined for each allele, alleles B and T were found to be more common in the control group (p = 0.039, chi(2) = 4.276, odds ratio [OR] = 0.312, 95% confidence interval [CI] = 0.100-0.973 and p = 0.039, chi(2) = 4.258, OR = 0.254, 95% CI = 0.064-1.000, respectively). When genotypes were analyzed as pairs, the Bb/TT variant was higher in the control group at a statistically high significance (p = 0.001, chi(2) = 11.854, OR = 0.122, 95% CI = 0.032-0.460). Conclusion: The alleles B and T and the genotype combination Bb/TT were found to be higher in the control group, and thus BsmI and TaqI polymorphisms of the VDR gene may be possible risk factors for colorectal carcinogenesis.