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Clinical and Developmental Immunology
Volume 2012, Article ID 487521, 7 pages
Clinical Study

TRAF1 Gene Polymorphism Correlates with the Titre of Gp210 Antibody in Patients with Primary Biliary Cirrhosis

1Medical Biology Laboratory, Department of Laboratory Diagnostics and Molecular Medicine, Pomeranian Medical University, 70-111 Szczecin, Poland
2INOVA Diagnostics, San Diego, CA 92131-1638, USA
3Liver Unit, Pomeranian Medical University, 70-111 Szczecin, Poland
4Institute of Liver Studies, School of Medicine, King’s College London, London SE5 9RS, UK

Received 28 August 2012; Accepted 22 September 2012

Academic Editor: Pietro Invernizzi

Copyright © 2012 Agnieszka Kempinska-Podhorodecka et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


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. Aim of the Study. 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 ( ). In contrast, antichromatin titers were higher in AA compared to GG rs3761847 homozygotes ( ). Rheumatoid factor IgG titres were significantly higher in rs2900180 TT homozygotes than CC homozygotes ( ). 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.