title: Potential association of vitamin D receptor polymorphism Taq1 with multiple sclerosis.
abstract: BACKGROUND
  The environmental influence of sun exposure and vitamin D in particular and its implication with multiple sclerosis (MS) has recently received considerable attention. Current evidence based on genetic and epidemiological studies indicate that vitamin D is implicated in the aetiology of this disease.
  
  
  METHODS
  We examined two common variants in the vitamin D receptor (VDR) gene in 1153 trio families and 726 cases and 604 controls. We also examined epistatic interactions between the VDR SNPs rs731236 and rs2228570 with the tagging single nucleotide polymorphism (SNP) rs3135388 for the HLA-DRB*1501 locus containing a highly conserved vitamin D responsive element within its promoter region.
  
  
  RESULTS
  We found weak evidence for an association between the rs731236C allele and MS, while there was no direct association with rs2228570. When examining the interaction between the VDR gene variations and the DRB1*1501 tagging SNP a more complex relationship was observed. Although the interaction was not statistically significant, there appeared to be a trend of increasing risk of MS in participants who were homozygous for the HLA-DRB1*1501 allele in association with the more active form of the VDR (Fok1).
  
  
  CONCLUSIONS
  We have identified weak evidence of an association between a common variation within the VDR gene and MS, in the largest study reported to date of this candidate gene. There appears to be a relationship between polymorphisms in the VDR and the risk of MS, which is potentially modified by HLA-DRB1*1501.
authors.affiliation: University of Newcastle and Hunter Medical Research Institute, Newcastle, Australia. Jeannette.lechner-scott@hnehealth.nsw.gov.au
authors.forename: Mathew B
authors.initials: MB
authors.lastname: Cox
authors.forename: Maria
authors.initials: M
authors.lastname: Ban
authors.forename: Nikola A
authors.initials: NA
authors.lastname: Bowden
authors.forename: Amie
authors.initials: A
authors.lastname: Baker
authors.forename: Rodney J
authors.initials: RJ
authors.lastname: Scott
authors.forename: Jeannette
authors.initials: J
authors.lastname: Lechner-Scott
mesh_terms: D000328:Adult; D004843:Epistasis, Genetic / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D059811:HLA-DRB1 Chains / Q000235:genetics*; D006801:Humans; D008297:Male; D009103:Multiple Sclerosis / Q000235:genetics*; D016017:Odds Ratio; D020641:Polymorphism, Single Nucleotide; D018167:Receptors, Calcitriol / Q000235:genetics*; D012307:Risk Factors
chemical_list: D059811:HLA-DRB1 Chains; C489631:HLA-DRB1*15:01 antigen; D018167:Receptors, Calcitriol