Genetic Factors Associated with Rheumatoid Arthritis and Systemic Vasculitis: Evaluation of a Panel of Polymorphisms. Issue 5 (2nd June 2013)

• Record Type: Journal Article
• Authors: Menegatti, Elisa; Davit, Annalisa; Francica, Simona; Berardi, Daniela; Rossi, Daniela; Baldovino, Simone; Tovo, Pier Angelo; Sena, Luigi M.; Roccatello, Dario
• Is Part Of: Disease markers. Volume 27:Issue 5(2009)
• Page Start: 217
• Page End: 223
• Publication Date: 2013-06-02
• Subjects: Connective diseases -- systemic vasculitis -- uteroglobin -- polymorphisms; Diagnosis -- Periodicals; Biochemical markers -- Periodicals; Pathology -- Periodicals; 616
• DOI: 10.3233/DMA-2009-0666
• Languages: English
• ISSNs: 0278-0240

Abstract

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.