Please use this identifier to cite or link to this item: http://hdl.handle.net/10668/2469
Título : Genetic Analysis with the Immunochip Platform in Behçet Disease. Identification of Residues Associated in the HLA Class I Region and New Susceptibility Loci.
Autor : Ortiz-Fernández, Lourdes
Carmona, Francisco-David
Montes-Cano, Marco-Antonio
García-Lozano, José-Raúl
Conde-Jaldón, Marta
Ortego-Centeno, Norberto
Castillo, María Jesús
Espinosa, Gerard
Graña-Gil, Genaro
Sánchez-Bursón, Juan
Juliá, María Rosa
Solans, Roser
Blanco, Ricardo
Barnosi-Marín, Ana-Celia
Gómez de la Torre, Ricardo
Fanlo, Patricia
Rodríguez-Carballeira, Mónica
Rodríguez-Rodríguez, Luis
Camps, Teresa
Castañeda, Santos
Alegre-Sancho, Juan-Jose
Martín, Javier
González-Escribano, María Francisca
Filiación: [Ortiz-Fernández,L; Montes-Cano,MA; García-Lozano,JR; Conde-Jaldón,M; González-Escribano,MF] Department of Immunology, Hospital Universitario Virgen del Rocío (IBiS, CSIC, US), Sevilla, Spain. [Carmona,FD; Martín,J] Instituto de Parasitología y Biomedicina “López-Neyra”, CSIC, Granada, Spain. [Ortego-Centeno,N] Department of Internal Medicine, Hospital Clínico San Cecilio, Granada, Spain. [Castillo,MJ] Department of Internal Medicine, Hospital Universitario Virgen del Rocío, Sevilla, Spain. [Espinosa,G] Department Autoimmune Diseases, Hospital Universitari Clínic, Barcelona, Spain. [Graña-Gil,G] Department of Rheumatology, Complejo Hospitalario Universitario A Coruña, A Coruña, Spain. [Sánchez-Bursón,J] Department of Rheumatology, Hospital Universitario de Valme, Sevilla, Spain. [Juliá,MR] Department of Immunology, Hospital Universitari Son Espases, Palma de Mallorca, Spain. [Solans,R] Department of Internal Medicine, Autoimmune Systemic Diseases Unit, Hospital Vall d’Hebron, Universidad Autonoma de Barcelona, Barcelona, Spain. [Blanco,R] Department of Rheumatology, Hospital Universitario Marqués de Valdecilla, Santander, Spain. [Barnosi-Marín,AC] Department of Internal Medicine, Complejo Hospitalario Torrecárdenas, Almería, Spain. [Gómez de la Torre,R] Department of Internal Medicine, Hospital Universitario Central de Asturias, Asturias, Spain. [Fanlo,P] Department of Internal Medicine, Hospital Virgen del Camino, Pamplona, Spain. [Rodríguez-Carballeira,M] Deparment of Internal Medicine, Hospital Universitari Mútua Terrassa, Terrassa, Spain. [Rodríguez-Rodríguez,L] Department of Rheumatology, Hospital Clínico San Carlos, Madrid, Spain. [Camps,T] Department of Internal Medicine, Hospital Regional Universitario de Málaga, Málaga, Spain. [Castañeda,S] Department of Rheumatology, Hospital de la Princesa, IIS-Princesa, Madrid, Spain. [Alegre-Sancho,JJ] Department of Rheumatology, Hospital Universitario Doctor Peset, Valencia, Spain.
Palabras clave : Alelos
Aminoácidos
Síndrome de Behçet
Genes clase I del complejo de histocompatibilidad (MHC)
Genotipo
Antígenos HLA-B
Modelos logísticos
España
MeSH: Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Genome Components::Genes::Alleles
Medical Subject Headings::Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Amino Acids
Medical Subject Headings::Diseases::Stomatognathic Diseases::Mouth Diseases::Behcet Syndrome
Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Genome Components::Genes::Major Histocompatibility Complex::Genes, MHC Class I
Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genotype
Medical Subject Headings::Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Proteins::Glycoproteins::Membrane Glycoproteins::Histocompatibility Antigens Class I::HLA-B Antigens
Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Statistics as Topic::Models, Statistical::Logistic Models
Medical Subject Headings::Geographicals::Geographic Locations::Europe::Spain
Fecha de publicación : 22-Aug-2016
Editorial : Public Library of Science
Cita Bibliográfica: 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
Abstract: 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.
Descripción : Journal Article;
URI: http://hdl.handle.net/10668/2469
Versión del editor : http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0161305#abstract0
DOI: 10.1371/journal.pone.0161305
ISSN : 1932-6203 (Online)
Appears in Collections:01- Artículos - Hospital Regional de Málaga
01- Artículos - Complejo Hospitalario Torrecárdenas
01- Artículos - AGS Sur de Sevilla
01- Artículos - Hospital Virgen del Rocío
01- Artículos - Complejo Hospitalario Universitario de Granada
01- Artículos - IBIS. Instituto de Biomedicina de Sevilla

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