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dc.contributor.authorOrtiz-Fernández, Lourdes
dc.contributor.authorCarmona, Francisco-David
dc.contributor.authorMontes-Cano, Marco-Antonio
dc.contributor.authorGarcía-Lozano, José-Raúl
dc.contributor.authorConde-Jaldón, Marta
dc.contributor.authorOrtego-Centeno, Norberto
dc.contributor.authorCastillo, María Jesús
dc.contributor.authorEspinosa, Gerard
dc.contributor.authorGraña-Gil, Genaro
dc.contributor.authorSánchez-Bursón, Juan
dc.contributor.authorJuliá, María Rosa
dc.contributor.authorSolans, Roser
dc.contributor.authorBlanco, Ricardo
dc.contributor.authorBarnosi-Marín, Ana-Celia
dc.contributor.authorGómez de la Torre, Ricardo
dc.contributor.authorFanlo Mateo, Patricia
dc.contributor.authorRodríguez-Carballeira, Mónica
dc.contributor.authorRodríguez-Rodríguez, Luis
dc.contributor.authorCamps, Teresa
dc.contributor.authorCastañeda, Santos
dc.contributor.authorAlegre-Sancho, Juan-Jose
dc.contributor.authorMartín, Javier
dc.contributor.authorGonzález-Escribano, María Francisca
dc.identifier.citationPLoS ONE.2016;(11)8:e0161305
dc.description.abstractBehcet'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.
dc.subject.meshBehcet Syndrome
dc.subject.meshCase-Control Studies
dc.subject.meshGene Frequency
dc.subject.meshGenetic Loci
dc.subject.meshHLA-A3 Antigen
dc.subject.meshHLA-B Antigens
dc.subject.meshHLA-B51 Antigen
dc.subject.meshInterleukin-12 Subunit p35
dc.subject.meshLogistic Models
dc.subject.meshMicroarray Analysis
dc.subject.meshModels, Molecular
dc.subject.meshReceptors, Interleukin
dc.subject.meshGenetic Predisposition to Disease
dc.titleGenetic Analysis with the Immunochip Platform in Behçet Disease. Identification of Residues Associated in the HLA Class I Region and New Susceptibility Loci.
dc.identifier.journalPloS one
dc.pubmedtypeJournal Article
Appears in Collections:Fundaciones e Institutos de Investigación > IIS H. U. La Princesa > Artículos
Fundaciones e Institutos de Investigación > IIS H. U. Clínico San Carlos > Artículos

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