title: Genetic analysis of the vitamin D receptor gene in two epithelial cancers: melanoma and breast cancer case-control studies.
abstract: BACKGROUND
  Vitamin D serum levels have been found to be related to sun exposure and diet, together with cell differentiation, growth control and consequently, cancer risk. Vitamin D receptor (VDR) genotypes may influence cancer risk; however, no epidemiological studies in sporadic breast cancer (BC) or malignant melanoma (MM) have been performed in a southern European population. In this study, the VDR gene has been evaluated in two epithelial cancers BC and MM.
  
  
  METHODS
  We have conducted an analysis in 549 consecutive and non-related sporadic BC cases and 556 controls, all from the Spanish population, and 283 MM cases and 245 controls. Genotyping analyses were carried out on four putatively functional SNPs within the VDR gene.
  
  
  RESULTS
  An association with the minor allele A of the non-synonymous SNP rs2228570 (rs10735810, FokI, Met1Thr) was observed for BC, with an estimated odds ratio (OR) of 1.26 (95% CI = 1.02-1.57; p = 0.036). The synonymous variant rs731236 (TaqI) appeared to be associated with protection from BC (OR = 0.80, 95%CI = 0.64-0.99; p = 0.047). No statistically significant associations with MM were observed for any SNP. Nevertheless, sub-group analyses revealed an association between rs2228570 (FokI) and absence of childhood sunburns (OR = 0.65, p = 0.003), between the 3'utr SNP rs739837 (BglI) and fair skin (OR = 1.31, p = 0.048), and between the promoter SNP rs4516035 and the more aggressive tumour location in head-neck and trunk (OR = 1.54, p = 0.020).
  
  
  CONCLUSIONS
  In summary, we observed associations between SNPs in the VDR gene and BC risk, and a comprehensive analysis using clinical and tumour characteristics as outcome variables has revealed potential associations with MM. These associations required confirmation in independent studies.
authors.affiliation: Human Genetics Group, Human Cancer Genetics Program, Spanish National Cancer Research Centre (CNIO), Madrid, Spain.
authors.forename: Eva
authors.initials: E
authors.lastname: Barroso
authors.forename: Lara P
authors.initials: LP
authors.lastname: Fernandez
authors.forename: Roger L
authors.initials: RL
authors.lastname: Milne
authors.forename: Guillermo
authors.initials: G
authors.lastname: Pita
authors.forename: Elena
authors.initials: E
authors.lastname: Sendagorta
authors.forename: Uxua
authors.initials: U
authors.lastname: Floristan
authors.forename: Marta
authors.initials: M
authors.lastname: Feito
authors.forename: Jose A
authors.initials: JA
authors.lastname: Aviles
authors.forename: Manuel
authors.initials: M
authors.lastname: Martin-Gonzalez
authors.forename: Jose I
authors.initials: JI
authors.lastname: Arias
authors.forename: Pilar
authors.initials: P
authors.lastname: Zamora
authors.forename: Monserrat
authors.initials: M
authors.lastname: Blanco
authors.forename: Pablo
authors.initials: P
authors.lastname: Lazaro
authors.forename: Javier
authors.initials: J
authors.lastname: Benitez
authors.forename: Gloria
authors.initials: G
authors.lastname: Ribas
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D001943:Breast Neoplasms / Q000235:genetics*; D016022:Case-Control Studies; D016001:Confidence Intervals; D005260:Female; D005838:Genotype; D006801:Humans; D008545:Melanoma / Q000235:genetics*; D008875:Middle Aged; D016017:Odds Ratio; D020641:Polymorphism, Single Nucleotide; D018167:Receptors, Calcitriol / Q000235:genetics*; D012878:Skin Neoplasms / Q000235:genetics*; D013030:Spain; D013472:Sunlight; D055815:Young Adult
chemical_list: D018167:Receptors, Calcitriol