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Title: Mutational profile of rare variants in inflammasome-related genes in Behçet disease: A Next Generation Sequencing approach
Author: Burillo Sanz, Sergio
Montes Cano, Marco Antonio
García Lozano, José Raúl
Ortiz Fernández, Lourdes
Ortego Centeno, Norberto
García Hernández, Francisco José
Espinosa Garriga, Gerard
Graña Gil, Genaro
Sánchez Bursón, Juan
Juliá, María
Solans, Roser
Blanco, Ricardo
Barnosi-Marín, Ana Celia
Gómez de la Torre, Ricardo
Fanlo, Patricia
Rodríguez Carballeira, Mónica
Rodríguez-Rodríguez, Luis
Camps, Teresa
Castañeda, Santos
Alegre Sancho, Juan Jose
Martín, Javier
González Escribano, María Francisca
Keywords: Malaltia de Behçet
Behçet's disease
Issue Date: 16-Aug-2017
Publisher: Nature Publishing Group
Abstract: Behçet's disease (BD) is an immune-mediated systemic disorder with a well-established association with HLA class I and other genes. BD has clinical overlap with many autoinflammatory diseases (AIDs). The aim of this study was to investigate the role of rare variants in seven genes involved in AIDs: CECR1, MEFV, MVK, NLRP3, NOD2, PSTPIP1 and TNFRSF1A using a next generation sequencing (NGS) approach in 355 BD patients. To check global association of each gene, 4 tests: SKAT, CollapseBt, C(α) and weighted KBAC were used. Databases: 1000 Genomes Project Phase 3, Infevers, HGMD and ClinVar and algorithms: PolyPhen2 and SIFT were consulted to collect information of the 62 variants found. All the genes resulted associated using SKAT but only 3 (MVK, NOD2 and PSTPIP1) with C(α) and weighted KBAC. When all the genes are considered, 40 variants were associated to AIDs in clinical databases and 25 were predicted as pathogenic at least by one of the algorithms. Including only MVK, NOD2 and PSTPIP1, the associated to AIDs variants found in BD were 20 and the predicted as pathogenic, 12. The maxima contribution corresponds to NOD2. This study supports influence of rare variants in genes involved in AIDs in the pathogenesis of BD.
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It is part of: Scientific Reports, 2017, vol. 7, p. 8453
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ISSN: 2045-2322
Appears in Collections:Articles publicats en revistes (Medicina)

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