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

There is increasing evidence that vitamin D can protect against breast canc er. 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 Bsml, an intronic 3' gene variant, was significantly associated with increased breast cancer risk: odds ratio bb vs BB genotype = 2.32 (95% Cl, 1.23-4.39). The Bsml polymorphism was in lin kage disequilibrium with a candidate translational control site, the variab le length poly (A) sequence in the 3' untranslated region. Thus, the 'L' po ly (A) variant was also associated with a similar breast cancer risk. A 5' VDR gene variant, Fokl, was not associated with breast cancer risk. Further investigations into the mechanisms of interactions of the VDR with other e nvironmental 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. (C) 2001 Cancer Research Campaign http://www.b jcancer.com.