title: Vitamin D receptor gene polymorphisms are associated with breast cancer risk in a UK Caucasian population.
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 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.
authors.affiliation: Department of Oncology, Gastroenterology, Endocrinology and Metabolism, St George's Hospital Medical School, London.
authors.forename: D
authors.initials: D
authors.lastname: Bretherton-Watt
authors.forename: R
authors.initials: R
authors.lastname: Given-Wilson
authors.forename: J L
authors.initials: JL
authors.lastname: Mansi
authors.forename: V
authors.initials: V
authors.lastname: Thomas
authors.forename: N
authors.initials: N
authors.lastname: Carter
authors.forename: K W
authors.initials: KW
authors.lastname: Colston
mesh_terms: D000328:Adult; D000368:Aged; D001943:Breast Neoplasms / Q000453:epidemiology / Q000235:genetics*; D015252:Deoxyribonucleases, Type II Site-Specific / Q000378:metabolism; D005260:Female; D006801:Humans; D008875:Middle Aged; D011110:Polymorphism, Genetic; D018167:Receptors, Calcitriol / Q000235:genetics*; D006113:United Kingdom / Q000453:epidemiology; D044465:White People / Q000235:genetics*
chemical_list: D018167:Receptors, Calcitriol; C053864:endodeoxyribonuclease BsmI; D015252:Deoxyribonucleases, Type II Site-Specific