title: Genetic factors associated with rheumatoid arthritis and systemic vasculitis: Evaluation of a panel of polymorphisms.
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 TNFalpha c.-308A > G, IL-10 c.-1082A > G, uteroglobin c.38A > G, TGFbeta 1 c.869C > T and NFkappaB2 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-kappaB2 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-kappaB2 gene (p=0.02). Our data suggest that genetic variation in UG and NF-kappaB2 pathways could have effects in connective tissue disease susceptibility.
authors.affiliation: Department of Experimental Medicine and Oncology, University of Turin, Italy. elisa.menegatti@unito.it
authors.forename: Elisa
authors.initials: E
authors.lastname: Menegatti
authors.forename: Annalisa
authors.initials: A
authors.lastname: Davit
authors.forename: Simona
authors.initials: S
authors.lastname: Francica
authors.forename: Daniela
authors.initials: D
authors.lastname: Berardi
authors.forename: Daniela
authors.initials: D
authors.lastname: Rossi
authors.forename: Simone
authors.initials: S
authors.lastname: Baldovino
authors.forename: Pier Angelo
authors.initials: PA
authors.lastname: Tovo
authors.forename: Luigi M
authors.initials: LM
authors.lastname: Sena
authors.forename: Dario
authors.initials: D
authors.lastname: Roccatello
mesh_terms: D001172:Arthritis, Rheumatoid / Q000235:genetics*; D001483:Base Sequence; D016207:Cytokines / Q000235:genetics; D017931:DNA Primers; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D011110:Polymorphism, Genetic; D056647:Systemic Vasculitis / Q000235:genetics*
chemical_list: D016207:Cytokines; D017931:DNA Primers