title: Evaluation of a shared autoimmune disease-associated polymorphism of TRAF6 in systemic sclerosis and giant cell arteritis.
abstract: OBJECTIVE
  We evaluated whether a single-nucleotide polymorphism (SNP) of the TRAF6 gene previously associated with systemic lupus erythematosus and rheumatoid arthritis may be a common risk factor for systemic sclerosis (SSc) and giant cell arteritis (GCA).
  
  
  METHODS
  A total of 1185 patients with SSc, 479 patients with biopsy-proven GCA, and 1442 unrelated healthy controls of white Spanish origin were genotyped for the rs540386 variant using a specifically designed TaqMan(©) allele discrimination assay.
  
  
  RESULTS
  No significant associations of this SNP with global SSc or GCA were found. This was also the case when the potential associations of the TRAF6 polymorphism with the main clinical phenotypes of the 2 diseases (e.g., limited cutaneous and diffuse cutaneous SSc, or presence of polymyalgia rheumatica and visual ischemic manifestations in GCA) were assessed.
  
  
  CONCLUSIONS
  Our data do not support a role of the rs540386 TRAF6 variant as a key component of the genetic network underlying SSc and GCA.
authors.affiliation: Instituto de Parasitología y Biomedicina López-Neyra, CSIC, Granada, Spain. dcarmona@ipb.csic.es
authors.forename: F David
authors.initials: FD
authors.lastname: Carmona
authors.forename: Aurora
authors.initials: A
authors.lastname: Serrano
authors.forename: Luis
authors.initials: L
authors.lastname: Rodríguez-Rodríguez
authors.forename: José Luis
authors.initials: JL
authors.lastname: Callejas
authors.forename: Carmen P
authors.initials: CP
authors.lastname: Simeón
authors.forename: Patricia
authors.initials: P
authors.lastname: Carreira
authors.forename: Santos
authors.initials: S
authors.lastname: Castañeda
authors.forename: Roser
authors.initials: R
authors.lastname: Solans
authors.forename: Ricardo
authors.initials: R
authors.lastname: Blanco
authors.forename: Miguel A
authors.initials: MA
authors.lastname: González-Gay
authors.forename: Javier
authors.initials: J
authors.lastname: Martín
mesh_terms: D001327:Autoimmune Diseases / Q000175:diagnosis / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D013700:Giant Cell Arteritis / Q000175:diagnosis / Q000235:genetics* / Q000276:immunology; D006801:Humans; D008297:Male; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors; D045743:Scleroderma, Diffuse / Q000175:diagnosis / Q000235:genetics* / Q000276:immunology; D045745:Scleroderma, Limited / Q000175:diagnosis / Q000235:genetics* / Q000276:immunology; D048029:TNF Receptor-Associated Factor 6 / Q000235:genetics*
chemical_list: D048029:TNF Receptor-Associated Factor 6