Gene Expression Profiling in Behcet’s Disease Indicates an Autoimmune Component in the Pathogenesis of the Disease and Opens New Avenues for Targeted Therapy

Behçet disease (BD) is a chronic inflammatory multisystem disease characterized by oral and genital ulcers, uveitis, and skin lesions. Disease etiopathogenesis is still unclear. We aim to elucidate some aspects of BD pathogenesis and to identify specific gene signatures in peripheral blood cells (PB...

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Main Authors: Antonio Puccetti, Piera Filomena Fiore, Andrea Pelosi, Elisa Tinazzi, Giuseppe Patuzzo, Giuseppe Argentino, Francesca Moretta, Claudio Lunardi, Marzia Dolcino
Format: Article
Language:English
Published: Wiley 2018-01-01
Series:Journal of Immunology Research
Online Access:http://dx.doi.org/10.1155/2018/4246965
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author Antonio Puccetti
Piera Filomena Fiore
Andrea Pelosi
Elisa Tinazzi
Giuseppe Patuzzo
Giuseppe Argentino
Francesca Moretta
Claudio Lunardi
Marzia Dolcino
author_facet Antonio Puccetti
Piera Filomena Fiore
Andrea Pelosi
Elisa Tinazzi
Giuseppe Patuzzo
Giuseppe Argentino
Francesca Moretta
Claudio Lunardi
Marzia Dolcino
author_sort Antonio Puccetti
collection DOAJ
description Behçet disease (BD) is a chronic inflammatory multisystem disease characterized by oral and genital ulcers, uveitis, and skin lesions. Disease etiopathogenesis is still unclear. We aim to elucidate some aspects of BD pathogenesis and to identify specific gene signatures in peripheral blood cells (PBCs) of patients with active disease using novel gene expression and network analysis. 179 genes were modulated in 10 PBCs of BD patients when compared to 10 healthy donors. Among differentially expressed genes the top enriched gene function was immune response, characterized by upregulation of Th17-related genes and type I interferon- (IFN-) inducible genes. Th17 polarization was confirmed by FACS analysis. The transcriptome identified gene classes (vascular damage, blood coagulation, and inflammation) involved in the pathogenesis of the typical features of BD. Following network analysis, the resulting interactome showed 5 highly connected regions (clusters) enriched in T and B cell activation pathways and 2 clusters enriched in type I IFN, JAK/STAT, and TLR signaling pathways, all implicated in autoimmune diseases. We report here the first combined analysis of the transcriptome and interactome in PBCs of BD patients in the active stage of disease. This approach generates useful insights in disease pathogenesis and suggests an autoimmune component in the origin of BD.
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spelling doaj-art-30ad864c69ec4afda8cdcbedde7821ca2025-08-20T02:07:55ZengWileyJournal of Immunology Research2314-88612314-71562018-01-01201810.1155/2018/42469654246965Gene Expression Profiling in Behcet’s Disease Indicates an Autoimmune Component in the Pathogenesis of the Disease and Opens New Avenues for Targeted TherapyAntonio Puccetti0Piera Filomena Fiore1Andrea Pelosi2Elisa Tinazzi3Giuseppe Patuzzo4Giuseppe Argentino5Francesca Moretta6Claudio Lunardi7Marzia Dolcino8Immunology Area, Pediatric Hospital Bambino Gesù, Viale San Paolo 15, 00146 Rome, ItalyImmunology Area, Pediatric Hospital Bambino Gesù, Viale San Paolo 15, 00146 Rome, ItalyImmunology Area, Pediatric Hospital Bambino Gesù, Viale San Paolo 15, 00146 Rome, ItalyDepartment of Medicine, University of Verona, Piazzale L.A. Scuro 10, 37134 Verona, ItalyDepartment of Medicine, University of Verona, Piazzale L.A. Scuro 10, 37134 Verona, ItalyDepartment of Medicine, University of Verona, Piazzale L.A. Scuro 10, 37134 Verona, ItalyDepartment of Medicine, University of Verona, Piazzale L.A. Scuro 10, 37134 Verona, ItalyDepartment of Medicine, University of Verona, Piazzale L.A. Scuro 10, 37134 Verona, ItalyDepartment of Medicine, University of Verona, Piazzale L.A. Scuro 10, 37134 Verona, ItalyBehçet disease (BD) is a chronic inflammatory multisystem disease characterized by oral and genital ulcers, uveitis, and skin lesions. Disease etiopathogenesis is still unclear. We aim to elucidate some aspects of BD pathogenesis and to identify specific gene signatures in peripheral blood cells (PBCs) of patients with active disease using novel gene expression and network analysis. 179 genes were modulated in 10 PBCs of BD patients when compared to 10 healthy donors. Among differentially expressed genes the top enriched gene function was immune response, characterized by upregulation of Th17-related genes and type I interferon- (IFN-) inducible genes. Th17 polarization was confirmed by FACS analysis. The transcriptome identified gene classes (vascular damage, blood coagulation, and inflammation) involved in the pathogenesis of the typical features of BD. Following network analysis, the resulting interactome showed 5 highly connected regions (clusters) enriched in T and B cell activation pathways and 2 clusters enriched in type I IFN, JAK/STAT, and TLR signaling pathways, all implicated in autoimmune diseases. We report here the first combined analysis of the transcriptome and interactome in PBCs of BD patients in the active stage of disease. This approach generates useful insights in disease pathogenesis and suggests an autoimmune component in the origin of BD.http://dx.doi.org/10.1155/2018/4246965
spellingShingle Antonio Puccetti
Piera Filomena Fiore
Andrea Pelosi
Elisa Tinazzi
Giuseppe Patuzzo
Giuseppe Argentino
Francesca Moretta
Claudio Lunardi
Marzia Dolcino
Gene Expression Profiling in Behcet’s Disease Indicates an Autoimmune Component in the Pathogenesis of the Disease and Opens New Avenues for Targeted Therapy
Journal of Immunology Research
title Gene Expression Profiling in Behcet’s Disease Indicates an Autoimmune Component in the Pathogenesis of the Disease and Opens New Avenues for Targeted Therapy
title_full Gene Expression Profiling in Behcet’s Disease Indicates an Autoimmune Component in the Pathogenesis of the Disease and Opens New Avenues for Targeted Therapy
title_fullStr Gene Expression Profiling in Behcet’s Disease Indicates an Autoimmune Component in the Pathogenesis of the Disease and Opens New Avenues for Targeted Therapy
title_full_unstemmed Gene Expression Profiling in Behcet’s Disease Indicates an Autoimmune Component in the Pathogenesis of the Disease and Opens New Avenues for Targeted Therapy
title_short Gene Expression Profiling in Behcet’s Disease Indicates an Autoimmune Component in the Pathogenesis of the Disease and Opens New Avenues for Targeted Therapy
title_sort gene expression profiling in behcet s disease indicates an autoimmune component in the pathogenesis of the disease and opens new avenues for targeted therapy
url http://dx.doi.org/10.1155/2018/4246965
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