title: Association between polymorphism of the vitamin D metabolism gene CYP27B1 and HLA-B27-associated uveitis. Is a state of relative immunodeficiency pathogenic in HLA B27-positive uveitis?
abstract: OBJECTIVE
  Polymorphisms of the vitamin D metabolism gene CYP27B1 showed associations with multiple autoimmune diseases. The aim of this study was to investigate a possible association between the rs703842 A>G polymorphism of the CYP27B1 gene and HLA-B27-associated uveitis.
  
  
  METHODS
  One hundred fifty-nine patients with HLA-B27-associated uveitis, 138 HLA-B27-negative controls and 100 HLA-B27-positive controls were recruited for this retrospective case-control study. Main outcome parameters were genotype distribution and allelic frequencies determined by polymerase chain reaction.
  
  
  RESULTS
  Carriers of the rs703842G allele were found significantly more often in patients with HLA-B27-associated uveitis than in HLA-B27-positive controls (p = 0.03). Between patients and HLA-B27-negative controls no significant difference in the genotype distribution of the rs703842 A>G polymorphism was found (p = 0.97).
  
  
  CONCLUSIONS
  Our data suggest that the rs703842 A>G polymorphism may play a role in HLA-B27-associated uveitis.
authors.affiliation: Department of Ophthalmology, Auenbrugger University Graz, Graz, Austria.
authors.forename: Gernot
authors.initials: G
authors.lastname: Steinwender
authors.forename: Ewald
authors.initials: E
authors.lastname: Lindner
authors.forename: Martin
authors.initials: M
authors.lastname: Weger
authors.forename: Sophie
authors.initials: S
authors.lastname: Plainer
authors.forename: Wilfried
authors.initials: W
authors.lastname: Renner
authors.forename: Navid
authors.initials: N
authors.lastname: Ardjomand
authors.forename: Yosuf
authors.initials: Y
authors.lastname: El-Shabrawi
mesh_terms: D015090:25-Hydroxyvitamin D3 1-alpha-Hydroxylase / Q000235:genetics*; D000328:Adult; D016022:Case-Control Studies; D003710:Demography; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D015796:HLA-B27 Antigen / Q000235:genetics*; D006801:Humans; D008297:Male; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D014605:Uveitis / Q000201:enzymology / Q000235:genetics* / Q000276:immunology; D014807:Vitamin D / Q000378:metabolism*
chemical_list: D015796:HLA-B27 Antigen; D014807:Vitamin D; D015090:25-Hydroxyvitamin D3 1-alpha-Hydroxylase