Genetic Factors Associated with Rheumatoid Arthritis and Systemic Vasculitis: Evaluation of a Panel of Polymorphisms
Autor: | Elisa Menegatti, Annalisa Davit, Simona Francica, Daniela Berardi, Daniela Rossi, Simone Baldovino, Pier Angelo Tovo, Luigi M. Sena, Dario Roccatello |
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Rok vydání: | 2009 |
Předmět: |
Male
lcsh:R5-920 Polymorphism Genetic Base Sequence Connective diseases Biochemistry (medical) Clinical Biochemistry General Medicine Arthritis Rheumatoid uteroglobin systemic vasculitis polymorphisms Genetics Cytokines Humans Female Genetic Predisposition to Disease Other lcsh:Medicine (General) Molecular Biology DNA Primers |
Zdroj: | Disease markers Disease Markers, Vol 27, Iss 5, Pp 217-223 (2009) |
ISSN: | 1875-8630 0278-0240 |
Popis: | 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. |
Databáze: | OpenAIRE |
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