Abstract
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 BsmI, an intronic 3′ gene variant, was significantly associated with increased breast cancer risk: odds ratio bbvs BBgenotype = 2.32 (95% CI, 1.23–4.39). The BsmI 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, FokI, 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. © 2001 Cancer Research Campaign www.bjcancer.com
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Bretherton-Watt, D., Given-Wilson, R., Mansi, J. et al. Vitamin D receptor gene polymorphisms are associated with breast cancer risk in a UK Caucasian population. Br J Cancer 85, 171–175 (2001). https://doi.org/10.1054/bjoc.2001.1864
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DOI: https://doi.org/10.1054/bjoc.2001.1864
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