title: Lack of association between TRAF1/C5 gene polymorphisms and biopsy-proven giant cell arteritis.
abstract: OBJECTIVE
  A novel association with a 100-kb region on chromosome 9 that contains the tumor necrosis factor receptor-associated factor 1 (TRAF1) and C5 genes has been observed in some autoimmune rheumatic diseases, in particular in rheumatoid arthritis. We analyzed the influence of 2 single-nucleotide polymorphisms (SNP) from the TRAF1/C5 region in susceptibility to giant cell arteritis (GCA).
  
  
  METHODS
  We assessed 220 patients with biopsy-proven GCA and 410 matched controls. DNA from patients and controls was obtained from peripheral blood. Samples were genotyped for the rs10818488 and rs2900180 TRAF1/C5 gene polymorphisms by polymerase chain reaction, using a predesigned TaqMan allele discrimination assay.
  
  
  RESULTS
  A genotyping rate of 95% was achieved in this series of GCA. No significant differences in the genotype distribution between GCA patients and controls were found for the 2 SNP. GCA patients exhibited a reduced frequency of TRAF1/C5 AA homozygosity (7.6%) compared to controls (12.7%) but the difference was only marginally significant (OR 0.58, 95% CI 0.30-1.11, p = 0.07). The frequency of minor allele T of TRAF1/C5 rs2900180 was also slightly reduced in patients (24.3%) compared to controls (27.8%) (p = 0.19). No significant differences were observed when patients were stratified according to the presence of specific clinical disease features.
  
  
  CONCLUSIONS
  Our results showed no influence of rs10818488 and rs2900180 TRAF1/C5 gene polymorphisms in susceptibility to and clinical expression of GCA.
authors.affiliation: Instituto de Parasitología y Biomedicina López Neyra, Consejo Superior de Investigaciones Cientificas, Granada, Spain.
authors.forename: Orlando
authors.initials: O
authors.lastname: Torres
authors.forename: Rogelio
authors.initials: R
authors.lastname: Palomino-Morales
authors.forename: Tomas R
authors.initials: TR
authors.lastname: Vazquez-Rodriguez
authors.forename: Santos
authors.initials: S
authors.lastname: Castañeda
authors.forename: Inmaculada C
authors.initials: IC
authors.lastname: Morado
authors.forename: Jose A
authors.initials: JA
authors.lastname: Miranda-Filloy
authors.forename: Norberto
authors.initials: N
authors.lastname: Ortego-Centeno
authors.forename: Isidoro
authors.initials: I
authors.lastname: Gonzalez-Alvaro
authors.forename: Benjamin
authors.initials: B
authors.lastname: Fernandez-Gutierrez
authors.forename: Javier
authors.initials: J
authors.lastname: Martin
authors.forename: Miguel A
authors.initials: MA
authors.lastname: Gonzalez-Gay
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D001706:Biopsy; D003182:Complement C5 / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D013700:Giant Cell Arteritis / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology* / Q000601:surgery; D006801:Humans; D008875:Middle Aged; D011110:Polymorphism, Genetic; D047990:TNF Receptor-Associated Factor 1 / Q000235:genetics*
chemical_list: D003182:Complement C5; D047990:TNF Receptor-Associated Factor 1