2026-05-20T03:51:04Zhttps://repisalud.isciii.es/rest/oai/request

oai:repisalud.isciii.es:20.500.12105/204482024-11-28T16:49:53Zcom_20.500.12105_15322com_20.500.12105_2051col_20.500.12105_16958col_20.500.12105_16967col_20.500.12105_16980

00925njm 22002777a 4500 dc Burillo-Sanz, Sergio author Montes-Cano, Marco-Antonio author Garcia-Lozano, Jose-Raul author Ortiz-Fernandez, Lourdes author Ortego-Centeno, Norberto author Garcia-Hernandez, Francisco-Jose author Espinosa, Gerard author Grana-Gil, Genaro author Sanchez-Burson, Juan author Rosa Julia, Maria author Solans, Roser author Blanco, Ricardo author Barnosi-Marin, Ana-Celia author Gomez de la Torre, Ricardo author Fanlo Mateo, Patricia author Rodriguez-Carballeira, Monica author Rodriguez-RodigGuez, Luis author Camps, Teresa author Castaneda, Santos author Alegre-Sancho, Juan-Jose author Martin, Javier author Gonzalez-Escribano, Maria-Francisca author 2017-08-16 Behcet'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(alpha) 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(alpha) 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. Burillo-Sanz S, Montes-Cano MA, Garcia-Lozano JR, Ortiz-Fernandez L, Ortego-Centeno N, Garcia-Hernandez FJ, et al. Mutational profile of rare variants in inflammasome-related genes in Behcet disease: A Next Generation Sequencing approach. Sci Rep. 2017 Aug 16;7:8453. 10.1038/s41598-017-09164-7 2045-2322 Scientific Reports http://hdl.handle.net/20.500.13003/9703 28814775 L626527262 2-s2.0-85027530832 http://hdl.handle.net/20.500.12105/20448 407677800007 Mutational profile of rare variants in inflammasome-related genes in Behcet disease: A Next Generation Sequencing approach