Genetic Factors Associated with Rheumatoid Arthritis and Systemic Vasculitis: Evaluation of a Panel of PolymorphismsReport as inadecuate

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Disease Markers - Volume 27 2009, Issue 5, Pages 217-223

Department of Experimental Medicine and Oncology, Clinical Pathology Section, University of Turin, Turin, Italy

Centro di Ricerche di Immunopatologia e Documentazione su Malattie Rare CMID, Dipartimento di Malattie Rare, Immunologiche, Ematologiche ed Immunoematologiche, ASL-TO2 NORD, Torino, Italy

Centre of Research of Immunopathology and Rare Diseases, University of Turin, Turin, Italy

Department of Pediatrics, University of Turin, Turin, Italy

Received 18 December 2009; Accepted 18 December 2009

Copyright © 2009 Hindawi Publishing Corporation. 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.


Immune and inflammatory response activation is a common feature of connective tissue diseases and systemic vasculitis. The aim of our study was to evaluate the possible involvement of TNFα c.-308A > G, IL-10 c.-1082A > G, uteroglobin c.38A > G, TGFβ 1 c.869C > T and NFκB2 c.-1837T > C gene polymorphisms in susceptibility to connective tissue diseases. Our study cohort included 68 unrelated patients affected by rheumatoid arthritis RA 37 patients and ANCA-positive micropolyangiitis mPA 17 patients or ANCA-negative systemic vasculitis including 8 patients with Henoch-Schönlein purpura HSP and 6 patients with mixed cryoglobulinaemia MC as well as 98 control subjects. Allele frequency analysis of uteroglobin c.38G > A polymorphism showed a significant increase in the c.38A allele in patients p= 0.002. Genotype frequency analysis of uteroglobin and NF-κB2 gene polymorphisms in patients showed an increase in c.38GA and c.38AA genotypes in the uteroglobin gene p=0.02 coupled with an increase in homozygous c.-1837CC in the NF-κB2 gene p=0.02. Our data suggest that genetic variation in UG and NF-κB2 pathways could have effects in connective tissue disease susceptibility.

Author: Elisa Menegatti, Annalisa Davit, Simona Francica, Daniela Berardi, Daniela Rossi, Simone Baldovino, Pier Angelo Tovo, Luigi M. Se



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