RT Journal Article
T1 Genetic Analysis with the Immunochip Platform in Behçet Disease. Identification of Residues Associated in the HLA Class I Region and New Susceptibility Loci.
A1 Ortiz-Fernández, Lourdes
A1 Carmona, Francisco-David
A1 Montes-Cano, Marco-Antonio
A1 García-Lozano, José-Raúl
A1 Conde-Jaldón, Marta
A1 Ortego-Centeno, Norberto
A1 Castillo, María Jesús
A1 Espinosa, Gerard
A1 Graña-Gil, Genaro
A1 Sánchez-Bursón, Juan
A1 Juliá, María Rosa
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
K1 Alelos
K1 Aminoácidos
K1 Síndrome de Behçet
K1 Genes clase I del complejo de histocompatibilidad (MHC)
K1 Genotipo
K1 Antígenos HLA-B
K1 Modelos logísticos
K1 España
AB Behcet's disease (BD) is an immuno-mediated vasculitis in which knowledge of its etiology and genetic basis is limited. To improve the current knowledge, a genetic analysis performed with the Immunochip platform was carried out in a population from Spain. A discovery cohort comprising 278 BD cases and 1,517 unaffected controls were genotyped using the Immunochip platform. The validation step was performed on an independent replication cohort composed of 130 BD cases and 600 additional controls. The strongest association signals were observed in the HLA class I region, being HLA-B*51 the highest peak (overall P = 6.82E-32, OR = 3.82). A step-wise conditional logistic regression with classical alleles identified HLA-B*57 and HLA-A*03 as additional independent markers. The amino acid model that best explained the association, includes the position 97 of the HLA-B molecule and the position 66 of the HLA-A. Among the non-HLA loci, the most significant in the discovery analysis were: IL23R (rs10889664: P = 3.81E-12, OR = 2.00), the JRKL/CNTN5 region (rs2848479: P = 5.00E-08, OR = 1.68) and IL12A (rs1874886: P = 6.67E-08, OR = 1.72), which were confirmed in the validation phase (JRKL/CNTN5 rs2848479: P = 3.29E-10, OR = 1.66; IL12A rs1874886: P = 1.62E-08, OR = 1.61). Our results confirm HLA-B*51 as a primary-association marker in predisposition to BD and suggest additional independent signals within the class I region, specifically in the genes HLA-A and HLA-B. Regarding the non-HLA genes, in addition to IL-23R, previously reported in our population; IL12A, described in other populations, was found to be a BD susceptibility factor also in Spaniards; finally, a new associated locus was found in the JRKL/CNTN5 region.
PB Public Library of Science
YR 2016
FD 2016-08-22
LK http://hdl.handle.net/10668/2469
UL http://hdl.handle.net/10668/2469
LA en
NO Ortiz-Fernández L, Carmona FD, Montes-Cano MA, García-Lozano JR, Conde-Jaldón M, Ortego-Centeno N, et al. Genetic Analysis with the Immunochip Platform in Behçet Disease. Identification of Residues Associated in the HLA Class I Region and New Susceptibility Loci. PLoS ONE. 2016; 11(8):e0161305
NO Journal Article;
DS RISalud
RD Apr 8, 2025