title: TRAF1 gene polymorphism correlates with the titre of Gp210 antibody in patients with primary biliary cirrhosis.
abstract: BACKGROUND
  Polymorphisms of TRAF1 (Tumor necrosis factor receptor-associated factor 1) are associated with rheumatoid arthritis (RA). Whether TRAF1 polymorphisms confer increased risk for primary biliary cirrhosis (PBC), an autoimmune liver disease which can co-exist with RA, is unknown.
  
  
  OBJECTIVE
  To assess the frequency of the RA-conferring susceptibility TRAF1 polymorphisms rs3761847 and rs2900180 in a cohort of PBC patients. The association of TRAF1 polymorphisms with clinical features and autoantibody markers was also analyzed.
  
  
  METHODS
  We studied 179 PBC patients and 300 controls. Samples were genotyped for TRAF1 gene polymorphisms by real-time PCR. Autoantibodies were tested by ELISA.
  
  
  RESULTS
  The frequency of rs3761847 and rs2900180 polymorphisms did not differ between patients and controls. Laboratory or clinical features were not associated with specific polymorphisms. Gp210 autoantibody titres were conspicuously higher among GG homozygotes of rs3761847 as compared with AA homozygotes (P = 0.02). In contrast, antichromatin titers were higher in AA compared to GG rs3761847 homozygotes (P = 0.04). Rheumatoid factor IgG titres were significantly higher in rs2900180 TT homozygotes than CC homozygotes (P = 0.02).
  
  
  CONCLUSIONS
  TRAF1 polymorphisms occur with the similar frequency in PBC patients and in the general population, but their presence is probably involved in the regulation of specific PBC-related autoantibodies.
authors.affiliation: Medical Biology Laboratory, Department of Laboratory Diagnostics and Molecular Medicine, Pomeranian Medical University, 70-111 Szczecin, Poland.
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Kempinska-Podhorodecka
authors.forename: Zakera
authors.initials: Z
authors.lastname: Shums
authors.forename: Michał
authors.initials: M
authors.lastname: Wasilewicz
authors.forename: Ewa
authors.initials: E
authors.lastname: Wunsch
authors.forename: Malgorzata
authors.initials: M
authors.lastname: Milkiewicz
authors.forename: Dimitrios P
authors.initials: DP
authors.lastname: Bogdanos
authors.forename: Gary L
authors.initials: GL
authors.lastname: Norman
authors.forename: Piotr
authors.initials: P
authors.lastname: Milkiewicz
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001172:Arthritis, Rheumatoid / Q000097:blood / Q000235:genetics / Q000276:immunology; D001323:Autoantibodies / Q000097:blood / Q000276:immunology*; D016022:Case-Control Studies; D015331:Cohort Studies; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006720:Homozygote; D006801:Humans; D008105:Liver Cirrhosis, Biliary / Q000097:blood / Q000235:genetics* / Q000276:immunology*; D008297:Male; D008875:Middle Aged; D028861:Nuclear Pore Complex Proteins / Q000097:blood / Q000276:immunology*; D011110:Polymorphism, Genetic; D012306:Risk; D047990:TNF Receptor-Associated Factor 1 / Q000235:genetics* / Q000276:immunology; D055815:Young Adult
chemical_list: D001323:Autoantibodies; C063865:NUP210 protein, human; D028861:Nuclear Pore Complex Proteins; D047990:TNF Receptor-Associated Factor 1