Journal
CLINICAL AND EXPERIMENTAL RHEUMATOLOGY
Volume 37, Issue 2, Pages 222-226Publisher
CLINICAL & EXPER RHEUMATOLOGY
Keywords
Fc gamma-receptor 2A; chronic periaortitis; idiopathic retroperitoneal fibrosis; IgG4; gene polymorphisms
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Funding
- grant A tailored approach to the immune-monitoring and clinical management of viral and autoimmune diseases - Regione Emilia-Romagna within the Programma di Ricerca Regione Universita 2010-2012
- Tailoring Rituximab treatment in ANCA-associated vasculitis
- a genetic and an immunological approach - Regione Emilia-Romagna within the Programma di ricerca Regione-Universita Giovani Ricercatori 'Alessandro Liberati' 2013
- Fondazione Emma ed Ernesto Rulfo per la Genetica Medica
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Objective Chronic periaortitis (CP) is an inflammatory disease associated in 20-60% of the cases with IgG4 related disease. Current evidence supports an autoimmune nature for CP gamma Fc gamma receptors (Fc gamma Rs) are involved in several immune system activities and are associated with autoimmunity in general. We explored the influence of genetic variants within this region on susceptibility to CP. Methods Genotyping of 4 candidate single nucleotide polymorphisms (SNPs) of the FCGR region was performed in CP patients and controls. Results One hundred and eighty-three cases and 181 controls were included. An association between the SNP rs1801274 of the FCGR2A and CP was detected (OR 1.6, 95% CI 1.18-2.16; corrected p-value, p(corr)=0.0085). After stratification of the population according to clinical characteristics, the association was restricted to cases of idiopathic retroperitoneal fibrosis (OR 1.66, 95% CI 1.21-2.29; p(corr)=0.028), without involvement of the thoracic aorta (OR 1.77, 95% CI 1.21-2.57; p(corr)=0.043), with deep vein thrombosis at onset (OR 3.96, 95% CI 1.81-8.66; p(corr)=0.0021) and with normal IgG4 levels (OR 2.67, 95% CI 1.39-5.12; p(corr)=0.031). Conclusion In the largest candidate gene approach study performed so far in CP, we demonstrated an association for CP with a gene hallmark of autoimmunity. The association appears restricted to typical cases of CP without increase of IgG4 levels.
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