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:
[email protected]
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.
