Search

Your search keyword '"Diseases::Stomatognathic Diseases::Mouth Diseases::Behcet Syndrome [Medical Subject Headings]"' showing total 2 results
Start Over Descriptor "Diseases::Stomatognathic Diseases::Mouth Diseases::Behcet Syndrome [Medical Subject Headings]"
2 results on '"Diseases::Stomatognathic Diseases::Mouth Diseases::Behcet Syndrome [Medical Subject Headings]"'

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

Author

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, [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., and 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).

Subjects
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]
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., 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

Published
2016

2. HLA and non-HLA genes in Behçet¿s disease: a multicentric study in the Spanish population

Author

Miguel A. González-Gay, P. Fanlo, Genaro Graña-Gil, María Francisca González-Escribano, Norberto Ortego-Centeno, Ana Celia Barnosi-Marín, Javier Martín, Juan Sánchez-Bursón, Gerard Espinosa, Marta Conde-Jaldón, Roser Solans, Antonio Núñez-Roldán, Teresa Camps, José Raúl García-Lozano, M.A. Montes-Cano, María Jesús Castillo-Palma, Lourdes Ortiz-Fernández, Santos Castañeda, [Montes Cano,A, Conde-Jaldón,M, García-Lozano,J, Ortiz-Fernández,L, Núñez-Roldán,A, González-Escribano,MF] Servicio de Inmunología, IBiS, Hospital Universitario Virgen del Rocío/CSIC/ Universidad de Sevilla, Spain. [Ortego-Centeno,N] Servicio de Medicina Interna, Hospital Clínico San Cecilio, Granada, Spain. [Castillo-Palma,MJ] Servicio de Medicina Interna, Hospital Universitario Virgen del Rocío, Sevilla, Spain. [Espinosa,G] Servicio de Enfermedades Autoinmunes, Hospital Clinic, Barcelona, Spain. [Graña-Gil,G] Servicio de Reumatología, CHU A Coruña, Spain. [González-Gay,MA] Servicio de Reumatología, Hospital Marques de Valdecilla, Santander, Spain. [Barnosi-Marín,AC] Servicio de Medicina Interna, Hospital Torrecárdenas, Almería, Spain. [Solans,R] Servicio de Medicina Interna, Hospital Vall d’Hebron, Barcelona, Spain. [Fanlo,P] Servicio de Medicina Interna, Hospital Virgen del Camino, Pamplona, Spain. [Camps,T] Servicio de Medicina Interna, Hospital Carlos Haya, Málaga, Spain. [Castañeda,S] Servicio de Reumatología, Hospital de la Princesa, Madrid, Spain. [Sánchez-Bursón,J] Servicio de Reumatología, Hospital de Valme, Sevilla, Spain. [Martín,J] IPB López Neyra, Granada, Spain., Fondo de Investigaciones Sanitarias (10/1701), Fondos FEDER, Plan Andaluz de Investigación (CTS-0197 and CTS-180), Red Enfermedades Inflamatorias y Reumáticas RD08/0075/0013 and Consejería de Salud de la Junta de Andalucía (PI0411/2010). LOF is the recipient of a fellowship (FI11/00547). The authors thank Asociación Andaluza de Enfermedades Autoinmunes (AADEA) and all patients and donors enrolled in the present study for their cooperation. Also, the authors thank the following public Spanish institutions for their participation in this study: Servicio Andaluz de Salud (Hospitales Torrecárdenas, Almería, Clínico San Cecilio, Granada, and Carlos Haya, Málaga, and Virgen del Rocío and Valme, Sevilla), Servei Catalá de la Salut (Clinic and Vall d’Hebron hospitals, Barcelona), Servizo Galego de Saude (Complejo Hospitalario Universitario, A Coruña), Servicio Cántabro de Salud (Hospital Marqués de Valdecilla, Santander), Servicio Navarro de Salud (Hospital Virgen del Camino, Pamplona), Servicio Montes-Cano et al. Arthritis Research & Therapy 2013, 15:R145

Subjects
Male, Antígeno HLA-B35, Candidate gene, Genome-wide association study, Named Groups::Persons::Age Groups::Adult::Middle Aged [Medical Subject Headings], Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Proteins::Glycoproteins::Membrane Glycoproteins::Histocompatibility Antigens Class I::HLA-A Antigens [Medical Subject Headings], Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Statistics as Topic::Probability::Risk::Risk Factors [Medical Subject Headings], Chemicals and Drugs::Biological Factors::Antigens::Antigens, Surface::Histocompatibility Antigens::HLA Antigens::HLA-B Antigens::HLA-B35 Antigen [Medical Subject Headings], Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans [Medical Subject Headings], Receptores de Interleucina, Gene Frequency, Risk Factors, HLA Antigens, Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Models, Theoretical::Models, Statistical::Logistic Models [Medical Subject Headings], Immunology and Allergy, Diseases::Stomatognathic Diseases::Mouth Diseases::Behcet Syndrome [Medical Subject Headings], Geographicals::Geographic Locations::Europe::Spain [Medical Subject Headings], Genetics, education.field_of_study, Behcet Syndrome, Antígenos HLA-B, Antígenos HLA-A, Middle Aged, Interleukin-10, Chemicals and Drugs::Biological Factors::Antigens::Antigens, Surface::Histocompatibility Antigens::HLA Antigens::HLA-B Antigens [Medical Subject Headings], Chemicals and Drugs::Biological Factors::Antigens::Antigens, Surface::Histocompatibility Antigens::HLA Antigens::HLA-B Antigens::HLA-B51 Antigen [Medical Subject Headings], HLA-B51 Antigen, Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Proteins::Membrane Proteins::Receptors, Cell Surface::Receptors, Immunologic::Receptors, Cytokine::Receptors, Interleukin [Medical Subject Headings], Female, Chemicals and Drugs::Biological Factors::Antigens::Antigens, Surface::Histocompatibility Antigens::HLA Antigens [Medical Subject Headings], Interleucina-10, Phenomena and Processes::Genetic Phenomena::Genotype [Medical Subject Headings], Antígeno HLA-B51, Research Article, HLA-B57 antigen, Adult, Antígeno HLA-B57, Genotype, Immunology, Population, Check Tags::Male [Medical Subject Headings], Single-nucleotide polymorphism, Human leukocyte antigen, Biology, Polymorphism, Single Nucleotide, Diseases::Pathological Conditions, Signs and Symptoms::Pathologic Processes::Disease Attributes::Disease Susceptibility::Genetic Predisposition to Disease [Medical Subject Headings], Rheumatology, IL23R protein, human, Named Groups::Persons::Age Groups::Adult [Medical Subject Headings], HLA-B Antigens, Humans, Genetic Predisposition to Disease, education, Allele frequency, Phenomena and Processes::Genetic Phenomena::Genetic Variation::Polymorphism, Genetic::Polymorphism, Single Nucleotide [Medical Subject Headings], HLA-A Antigens, Antígeno HLA, Receptors, Interleukin, Minor allele frequency, Logistic Models, Check Tags::Female [Medical Subject Headings], Spain, Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Peptides::Intercellular Signaling Peptides and Proteins::Cytokines::Interleukins::Interleukin-10 [Medical Subject Headings], HLA-B35 Antigen, Phenomena and Processes::Genetic Phenomena::Gene Frequency [Medical Subject Headings], Genome-Wide Association Study
Abstract

Introduction According to genome wide association (GWA) studies as well as candidate gene approaches, Behçet’s disease (BD) is associated with human leukocyte antigen (HLA)-A and HLA-B gene regions. The HLA-B51 has been consistently associated with the disease, but the role of other HLA class I molecules remains controversial. Recently, variants in non-HLA genes have also been associated with BD. The aims of this study were to further investigate the influence of the HLA region in BD and to explore the relationship with non-HLA genes recently described to be associated in other populations. Methods This study included 304 BD patients and 313 ethnically matched controls. HLA-A and HLA-B low resolution typing was carried out by PCR-SSOP Luminex. Eleven tag single nucleotide polymorphisms (SNPs) located outside of the HLA-region, previously described associated with the disease in GWA studies and having a minor allele frequency in Caucasians greater than 0.15 were genotyped using TaqMan assays. Phenotypic and genotypic frequencies were estimated by direct counting and distributions were compared using the χ2 test. Results In addition to HLA-B*51, HLA-B*57 was found as a risk factor in BD, whereas, B*35 was found to be protective. Other HLA-A and B specificities were suggestive of association with the disease as risk (A*02 and A*24) or protective factors (A*03 and B*58). Regarding the non-HLA genes, the three SNPs located in IL23R and one of the SNPs in IL10 were found to be significantly associated with susceptibility to BD in our population. Conclusion Different HLA specificities are associated with Behçet’s disease in addition to B*51. Other non-HLA genes, such as IL23R and IL-10, play a role in the susceptibility to the disease., This work was supported by Fondo de Investigaciones Sanitarias (10/1701), Fondos FEDER, Plan Andaluz de Investigación (CTS-0197 and CTS-180), Red Enfermedades Inflamatorias y Reumáticas RD08/0075/0013 and Consejería de Salud de la Junta de Andalucía (PI0411/2010). LOF is the recipient of a fellowship (FI11/00547).

Published
2013
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results