RT Journal Article
T1 Behçet's disease and genetic interactions between HLA-B*51 and variants in genes of autoinflammatory syndromes.
A1 Burillo-Sanz, Sergio
A1 Montes-Cano, Marco-Antonio
A1 Garcia-Lozano, Jose-Raul
A1 Olivas-Martinez, Israel
A1 Ortego-Centeno, Norberto
A1 Garcia-Hernandez, Francisco-Jose
A1 Espinosa, Gerard
A1 Graña-Gil, Genaro
A1 Sanchez-Burson, Juan
A1 Julia, Maria Rosa
A1 Solans, Roser
A1 Blanco, Ricardo
A1 Barnosi-Marin, Ana-Celia
A1 Gomez-de-la-Torre, Ricardo
A1 Fanlo, Patricia
A1 Rodriguez-Carballeira, Monica
A1 Rodriguez-Rodriguez, Luis
A1 Camps, Teresa
A1 Castañeda, Santos
A1 Alegre-Sancho, Juan-Jose
A1 Martin, Javier
A1 Gonzalez-Escribano, Maria Francisca
K1 Área de Gestión Sanitaria Sur de Sevilla
K1 Behcet Syndrome
K1 Cohort Studies
K1 Cytoskeletal Proteins
K1 Epistasis, Genetic
K1 Genetic Predisposition to Disease
K1 Genotype
AB Behçet'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.
PB Nature Publishing Group
YR 2019
FD 2019-02-26
LK http://hdl.handle.net/10668/13630
UL http://hdl.handle.net/10668/13630
LA en
NO Burillo-Sanz S, Montes-Cano MA, García-Lozano JR, Olivas-Martínez I, Ortego-Centeno N, García-Hernández FJ, et al. Behçet's disease and genetic interactions between HLA-B*51 and variants in genes of autoinflammatory syndromes. Sci Rep. 2019 Feb 26;9(1):2777
NO This work was supported by Fondo de Investigaciones Sanitarias, Instituto de Salud Carlos III (PI16/01373), Fondos FEDER and Plan Andaluz de Investigación (CTS-0197).
DS RISalud
RD Apr 6, 2025