RT Journal Article T1 Mutational profile of rare variants in inflammasome-related genes in Behçet disease: A Next Generation Sequencing approach. A1 Burillo-Sanz, Sergio A1 Montes-Cano, Marco-Antonio A1 García-Lozano, José-Raúl A1 Ortiz-Fernández, Lourdes A1 Ortego-Centeno, Norberto A1 García-Hernández, Francisco-José A1 Espinosa, Gerard A1 Graña-Gil, Genaro A1 Sánchez-Bursón, Juan A1 Rosa Juliá, María A1 Solans, Roser A1 Blanco, Ricardo A1 Barnosi-Marín, Ana-Celia A1 Gómez De la Torre, Ricardo A1 Fanlo, Patricia A1 Rodríguez-Carballeira, Mónica A1 Rodríguez-Rodríguez, Luis A1 Camps, Teresa A1 Castañeda, Santos A1 Alegre-Sancho, Juan-Jose A1 Martín, Javier A1 González-Escribano, María Francisca AB 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. YR 2017 FD 2017-08-16 LK http://hdl.handle.net/10668/11513 UL http://hdl.handle.net/10668/11513 LA en DS RISalud RD Apr 6, 2025