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oai:repisalud.isciii.es:20.500.12105/227752024-11-28T16:53:04Zcom_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 Olivas-Martinez, Israel 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-Rodriguez, Luis author Camps, Teresa author Castaneda, Santos author Alegre-Sancho, Juan-Jose author Martin, Javier author Gonzalez-Escribano, Maria-Francisca author 2019-02-26 Behcet's disease (BD) is an immune-mediated systemic disorder with a well-established genetic base. In a previous study, using a next generation sequencing approach, we found many rare variants and some functional polymorphisms in genes related to autoinflammatory syndromes (AID): CECR1, MEFV, MVK, NLRP3, NOD2, PSTPIP1 and TNFRSF1A in our BD cohort. Our strategy did not allow us to establish either number of patients with variants, proportion of individuals accumulating them or relationship with other genetic factors. With the goal to answer these questions, the individual samples were sequenced. Additionally, three functional polymorphisms: NLRP3 p.Gln703Lys, NOD2 p.Arg702Trp and p. Val955Ile were genotyped using TaqMan assays. A total of 98 patients (27.6%) carried at least one rare variant and 13 of them (3.7%) accumulated two or three. Functional regression model analysis suggests epistatic interaction between B51 and MEFV (P=0.003). A suggestive protective association of the minor allele of NOD2 p.Arg702Trp (P=0.01) was found in both, B51 positive and negative individuals. Therefore, a high percentage of patients with BD have rare variants in AID genes. Our results suggest that the association of MEFV with BD could be modulated by the HLA molecules; whereas the protective effect of NOD2 p.Arg702Trp would be independent of HLA. Burillo-Sanz S, Montes-Cano MA, Garcia-Lozano JR, Olivas-Martinez I, Ortego-Centeno N, Garcia-Hernandez FJ, et al. Behcet's disease and genetic interactions between HLA-B*51 and variants in genes of autoinflammatory syndromes. Sci Rep. 2019 Feb 26;9:2777. 10.1038/s41598-019-39113-5 2045-2322 Scientific Reports http://hdl.handle.net/20.500.13003/17644 30808881 L626570702 2-s2.0-85062152190 https://hdl.handle.net/20.500.12105/22775 459698900038 Behcet's disease and genetic interactions between HLA-B*51 and variants in genes of autoinflammatory syndromes