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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 José Martín, Javier González Escribano, María Francisca |
Keywords: | Malaltia de Behçet Vasculitis Behçet's disease Vasculitis |
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. |
Note: | Reproducció del document publicat a: https://doi.org/10.1038/s41598-017-09164-7 |
It is part of: | Scientific Reports, 2017, vol. 7, p. 8453 |
URI: | http://hdl.handle.net/2445/150004 |
Related resource: | https://doi.org/10.1038/s41598-017-09164-7 |
ISSN: | 2045-2322 |
Appears in Collections: | Articles publicats en revistes (Medicina) |
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