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Genetic Analysis with the Immunochip Platform in Behcet Disease. Identification of Residues Associated in the HLA Class I Region and New Susceptibility Loci

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العنوان: Genetic Analysis with the Immunochip Platform in Behcet Disease. Identification of Residues Associated in the HLA Class I Region and New Susceptibility Loci
المؤلفون: Ortiz-Fernández, Lourdes, Carmona, F. David, Montes-Cano, Marco-Antonio, García-Lozano, José-Raúl, Conde-Jaldón, Marta, Ortego-Centeno, Norberto, Castillo, María Jesús, Espinosa, Gerard, Graña, Jenaro, Sánchez-Bursón, Juan, Juliá, María Rosa, Solans, Roser, Blanco, Ricardo, Barnosi-Marín, Ana-Celia, Gómez de la Torre, Ricardo, Fanlo, Patricia, Rodríguez-Carballeira, Mónica, Rodriguez-Rodriguez, Luis, Camps i Miró, Teresa, Castañeda, Santos, Alegre-Sancho, Juan José, Martín, Javier, González-Escribano, María Francisca, Universitat Autònoma de Barcelona
المساهمون: [Ortiz-Fernandez, Lourdes] Hosp Univ Virgen Rocio IBiS CSIC US, Dept Immunol, Seville 41013, Spain, [Montes-Cano, Marco-Antonio] Hosp Univ Virgen Rocio IBiS CSIC US, Dept Immunol, Seville 41013, Spain, [Garcia-Lozano, Jose-Raul] Hosp Univ Virgen Rocio IBiS CSIC US, Dept Immunol, Seville 41013, Spain, [Conde-Jaldon, Marta] Hosp Univ Virgen Rocio IBiS CSIC US, Dept Immunol, Seville 41013, Spain, [Francisca Gonzalez-Escribano, Maria] Hosp Univ Virgen Rocio IBiS CSIC US, Dept Immunol, Seville 41013, Spain, [Carmona, Francisco-David] PTS Granada, CSIC, Inst Parasitol & Biomed Lopez Neyra, Granada 18016, Spain, [Martin, Javier] PTS Granada, CSIC, Inst Parasitol & Biomed Lopez Neyra, Granada 18016, Spain, [Ortego-Centeno, Norberto] Hosp Clin San Cecilio, Dept Internal Med, Granada 18003, Spain, [Jesus Castillo, Maria] Hosp Univ Virgen Rocio, Dept Internal Med, Seville 41003, Spain, [Espinosa, Gerard] Hosp Univ Clin, Dept Autoimmune Dis, Barcelona 08036, Spain, [Grana-Gil, Genaro] Dept Rheumatol, Complejo Hosp Univ A Coruna, La Coruna 15006, Spain, [Sanchez-Burson, Juan] Hosp Univ Valme, Dept Rheumatol, Seville 41014, Spain, [Rosa Julia, Maria] Hosp Univ Son Espases, Dept Immunol, Palma de Mallorca 07120, Spain, [Solans, Roser] Univ Autonoma Barcelona, Hosp Vall Hebron, Autoimmune Syst Dis Unit, Dept Internal Med, Barcelona 08035, Spain, [Blanco, Ricardo] Hosp Univ Marques Valdecilla, Dept Rheumatol, Santander 39008, Spain, [Barnosi-Marin, Ana-Celia] Dept Internal Med, Complejo Hosp Torrecardenas, Almeria 04009, Spain, [Gomez de la Torre, Ricardo] Hosp Univ Cent Asturias, Dept Internal Med, Asturias 33011, Spain, [Fanlo, Patricia] Hosp Virgen Camino, Dept Internal Med, Pamplona 31008, Spain, [Rodriguez-Carballeira, Monica] Hosp Univ Mutua Terrassa, Dept Internal Med, Terrassa 08221, Spain, [Rodriguez-Rodriguez, Luis] Hosp Clin San Carlos, Dept Rheumatol, Madrid 28040, Spain, [Camps, Teresa] Hosp Reg Univ Malaga, Dept Internal Med, Malaga 29010, Spain, [Castaneda, Santos] IIS Princesa, Hosp Princesa, Dept Rheumatol, Madrid 28006, Spain, [Alegre-Sancho, Juan-Jose] Hosp Univ Doctor Peset, Dept Rheumatol, Valencia 46017, Spain, Fondo de Investigaciones Sanitarias, Instituto de Salud Carlos III (ISCIII), Fondos FEDER, Plan Andaluz de Investigacion, ISCIII, RETICS Program (RIER, ISCIII), Instituto de Salud Carlos III, Junta de Andalucía, Red de Investigación en Inflamación y Enfermedades Reumáticas (España), [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., This work was supported by Fondo de Investigaciones Sanitarias, Instituto de Salud Carlos III (ISCIII, 13/01118), Fondos FEDER and Plan Andaluz de Investigación (CTS-0197). LOF is the recipient of a fellowship (ISCIII, FI11/00547) and FDC was funded by the RETICS Program (RIER, ISCIII, RD12/0009/0013).
المصدر: Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Digital.CSIC. Repositorio Institucional del CSIC
instname
PLoS ONE
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
PLoS ONE, Vol 11, Iss 8, p e0161305 (2016)
PLoS One
r-FISABIO. Repositorio Institucional de Producción Científica
r-FISABIO: Repositorio Institucional de Producción Científica
Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO)
بيانات النشر: Public library science, 2016.
سنة النشر: 2016
مصطلحات موضوعية: alelos, modelos logísticos, Genes clase I del complejo de histocompatibilidad (MHC), España, frecuencia génica, sitios genéticos, lcsh:Science, Diseases::Stomatognathic Diseases::Mouth Diseases::Behcet Syndrome [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], Geographicals::Geographic Locations::Europe::Spain [Medical Subject Headings], Immunoassay, education.field_of_study, Behcet Syndrome, Genomics, Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Statistics as Topic::Models, Statistical::Logistic Models [Medical Subject Headings], Phenomena and Processes::Genetic Phenomena::Genotype [Medical Subject Headings], Mhc class-i, Genotyping, estudios de casos y controles, Locus (genetics), Human leukocyte antigen, subunidad p35 de la interleucina-12, 03 medical and health sciences, Contactins, Rheumatoid-arthritis, Genetics, Genome-Wide Association Studies, Genetic predisposition, Humans, Molecular Biology Techniques, education, Molecular Biology, Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Amino Acids [Medical Subject Headings], síndrome de Behçet, Alleles, Molecular Biology Assays and Analysis Techniques, Sclerosis, lcsh:R, Biology and Life Sciences, Computational Biology, Receptors, Interleukin, 030104 developmental biology, Logistic Models, Genetic Loci, HLA-B Antigens, Case-Control Studies, lcsh:Q, Síndrome de Behçet, Genotipo, Models, Molecular, 0301 basic medicine, humanos, lcsh:Medicine, HLA-A3 Antigen, Genetic analysis, Geographical Locations, Gene Frequency, antígeno HLA-A3, Il23r-il12rb2, Aminoácidos, Multidisciplinary, antígeno HLA-B51, Genome-wide association, Antígenos HLA-B, antígenos HLA-B, Modelos logísticos, Europe, Peptide, Amino Acid Analysis, HLA-B51 Antigen, Alelos, Research Article, Risk, Population, Biology, Research and Analysis Methods, Genetic Predisposition, inmunoanálisis, Interleukin-12 Subunit p35, Genetic Predisposition to Disease, Allele, Allele frequency, Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Genome Components::Genes::Alleles [Medical Subject Headings], Imputation, contactinas, Human Genetics, predisposición genética a la enfermedad, Binding, Genome Analysis, Microarray Analysis, Spain, Genetics of Disease, People and Places, análisis por micromatrices, Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Genome Components::Genes::Major Histocompatibility Complex::Genes, MHC Class I [Medical Subject Headings]
الوصف: 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.
This work was supported by Fondo de Investigaciones Sanitarias, Instituto de Salud Carlos III (ISCIII, 13/01118), Fondos FEDER and Plan Andaluz de Investigación (CTS-0197). LOF is the recipient of a fellowship (ISCIII, FI11/00547) and FDC was funded by the RETICS Program (RIER, ISCIII, RD12/0009/0013). Instituto de Salud Carlos III Junta de Andalucía Red de Investigación en Inflamación y Enfermedades Reumáticas (España) RIER
وصف الملف: application/pdf; image/tiff; application/vnd.ms-excel
اللغة: English
تدمد: 1932-6203
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2fc18beb47f051b877f81a476ce0e1e2Test
https://hdl.handle.net/10668/19157Test
حقوق: OPEN
رقم الانضمام: edsair.doi.dedup.....2fc18beb47f051b877f81a476ce0e1e2
قاعدة البيانات: OpenAIRE
الوصف
تدمد:19326203