Vitamin D gene pathway polymorphisms and risk of colorectal, breast, and prostate cancer

Annu Rev Nutr. 2009;29:111-32. doi: 10.1146/annurev-nutr-080508-141248.


Higher vitamin D exposure is hypothesized to prevent several cancers, possibly through genomic effects modulated by the vitamin D receptor (VDR), and autocrine/paracrine metabolism of the VDR's ligand, 1alpha,25-(OH)(2)-vitamin D. Herein we review the background and evidence to date on associations between polymorphisms in VDR and selected genes in the vitamin D pathway in relation to colorectal, breast, and prostate cancer. Although most studies to date have examined only a few VDR polymorphisms, more are beginning to comprehensively investigate polymorphisms in the VDR as well as in other vitamin D pathway genes, such as the vitamin D-binding protein gene (Gc) and CYP27B1 and CYP24A1, which code for enzymes that, respectively, synthesize and degrade 1alpha,25-(OH)(2)-vitamin D. Currently, there is no strong, consistent epidemiologic evidence for substantial influences of single variants in vitamin D pathway genes on risk for colorectal, breast, or prostate cancer, but promising leads are developing.

Publication types

  • Review

MeSH terms

  • 25-Hydroxyvitamin D3 1-alpha-Hydroxylase / metabolism
  • Breast Neoplasms / epidemiology
  • Breast Neoplasms / genetics*
  • Colorectal Neoplasms / epidemiology
  • Colorectal Neoplasms / genetics*
  • Female
  • Genetic Predisposition to Disease
  • Humans
  • Male
  • Polymorphism, Genetic*
  • Prostatic Neoplasms / epidemiology
  • Prostatic Neoplasms / genetics*
  • Receptors, Calcitriol / genetics*
  • Steroid Hydroxylases / metabolism
  • Vitamin D / metabolism
  • Vitamin D-Binding Protein / metabolism
  • Vitamin D3 24-Hydroxylase


  • Receptors, Calcitriol
  • Vitamin D-Binding Protein
  • Vitamin D
  • Steroid Hydroxylases
  • CYP24A1 protein, human
  • Vitamin D3 24-Hydroxylase
  • 25-Hydroxyvitamin D3 1-alpha-Hydroxylase