Start codon FokI and intron 8 BsmI variants in the vitamin D receptor gene and susceptibility to colorectal cancer

Mol Biol Rep. 2011 Oct;38(7):4765-70. doi: 10.1007/s11033-010-0613-1. Epub 2010 Dec 4.

Abstract

Epidemiological evidence suggests the protective effect of vitamin D against colorectal cancer (CRC) and the polymorphisms in vitamin D receptor (VDR) gene may influence the development of CRC. In this study the possible association of VDR FokI and BsmI gene polymorphisms with CRC risk was examined. A total of 904 subjects, including 452 cases with CRC and 452 controls were enrolled in this study. All 904 subjects were genotyped for VDR FokI and BsmI gene polymorphisms by PCR-RFLP method. We observed no significant difference in genotype and allele frequencies between the cases with CRC and controls for the both FokI and BsmI polymorphisms either before or after adjustment for confounding factors including age, BMI, sex, and smoking status. Furthermore, no evidence for effect modification of the association VDR gene FokI and BsmI variants and CRC by BMI, sex, or tumor site was observed. In addition, there was no significant difference in genotype and allele frequencies between the normal weight (BMI <25 kg/m(2)) cases with CRC and overweight/obese (BMI ≥25 kg/m(2)) cases with CRC for the two SNPs. Our results do not lend support to the hypothesis that VDR gene FokI and BsmI polymorphisms are associated with the risk of CRC. However, further studies are required to confirm this finding.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Body Mass Index
  • Case-Control Studies
  • Codon, Initiator / genetics*
  • Colorectal Neoplasms / genetics*
  • Deoxyribonucleases, Type II Site-Specific / metabolism
  • Female
  • Genetic Predisposition to Disease*
  • Humans
  • Introns / genetics*
  • Male
  • Middle Aged
  • Polymorphism, Genetic*
  • Receptors, Calcitriol / genetics*
  • Young Adult

Substances

  • Codon, Initiator
  • Receptors, Calcitriol
  • endodeoxyribonuclease BsmI
  • endodeoxyribonuclease FokI
  • Deoxyribonucleases, Type II Site-Specific