Association of vitamin D receptor gene polymorphisms with colon cancer

Genet Test Mol Biomarkers. 2012 Sep;16(9):1058-61. doi: 10.1089/gtmb.2012.0044. Epub 2012 Aug 1.

Abstract

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, χ(2)=4.276, odds ratio [OR]=0.312, 95% confidence interval [CI]=0.100-0.973 and p=0.039, χ(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, χ(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.

MeSH terms

  • Case-Control Studies
  • Colonic Neoplasms / genetics*
  • Deoxyribonucleases, Type II Site-Specific
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease
  • Genotype
  • Humans
  • Male
  • Middle Aged
  • Polymorphism, Genetic / genetics*
  • Polymorphism, Restriction Fragment Length
  • Receptors, Calcitriol / genetics*
  • Turkey
  • White People / genetics*

Substances

  • Receptors, Calcitriol
  • endodeoxyribonuclease BsmI
  • Deoxyribonucleases, Type II Site-Specific
  • TCGA-specific type II deoxyribonucleases