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Article type: Research Article
Authors: Menegatti, Elisa | Davit, Annalisa | Francica, Simona | Berardi, Daniela | Rossi, Daniela | Baldovino, Simone; | Tovo, Pier Angelo | Sena, Luigi M. | Roccatello, Dario;
Affiliations: 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
Note: [] Corresponding author: Elisa Menegatti PhD, Dipartimento di Medicina ed Oncologia Sperimentale, c.so Raffaello, 30, 10125, Torino, Italy. Tel.: +39 0 116707751; Fax: +39 0 116707753; E-mail: elisa.menegatti@unito.it
Abstract: 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.
Keywords: Connective diseases, systemic vasculitis, uteroglobin, polymorphisms
DOI: 10.3233/DMA-2009-0666
Journal: Disease Markers, vol. 27, no. 5, pp. 217-223, 2009
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