2026-05-20T03:50:47Zhttps://repisalud.isciii.es/rest/oai/requestoai: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
Repisalud
author
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
2024-09-10T13:09:47Z
2024-09-10T13:09:47Z
2019-02-26
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 (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.
eng
Behcet's disease and genetic interactions between HLA-B*51 and variants in genes of autoinflammatory syndromes
research article