Vitamin D receptor gene polymorphisms are associated with breast cancer risk in a UK Caucasian population

Br J Cancer. 2001 Jul 20;85(2):171-5. doi: 10.1054/bjoc.2001.1864.


There is increasing evidence that vitamin D can protect against breast cancer. The actions of vitamin D are mediated via the vitamin D receptor (VDR). We have investigated whether polymorphisms in the VDR gene are associated with altered breast cancer risk in a UK Caucasian population. We recruited 241 women following a negative screening mammogram and 181 women with known breast cancer. The VDR polymorphism Bsm I, an intronic 3' gene variant, was significantly associated with increased breast cancer risk: odds ratio bb vs BB genotype = 2.32 (95% CI, 1.23-4.39). The Bsm I polymorphism was in linkage disequilibrium with a candidate translational control site, the variable length poly (A) sequence in the 3' untranslated region. Thus, the 'L' poly (A) variant was also associated with a similar breast cancer risk. A 5' VDR gene variant, Fok I, was not associated with breast cancer risk. Further investigations into the mechanisms of interactions of the VDR with other environmental and/or genetic influences to alter breast cancer risk may lead to a new understanding of the role of vitamin D in the control of cellular and developmental pathways.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Breast Neoplasms / epidemiology
  • Breast Neoplasms / genetics*
  • Deoxyribonucleases, Type II Site-Specific / metabolism
  • European Continental Ancestry Group / genetics*
  • Female
  • Humans
  • Middle Aged
  • Polymorphism, Genetic*
  • Receptors, Calcitriol / genetics*
  • United Kingdom / epidemiology


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