Downloads provided by UsageCountsHLA and non-HLA genes in Behçet’s disease: a multicentric study in the Spanish population
Copyright policy ) Montes-Cano, Marco Antonio; Conde-Jaldón, Marta; García-Lozano, José Raul; Ortiz-Fernández, Lourdes; Ortego-Centeno, Norberto; Castillo-Palma, María Jesús; Espinosa, Gerard; +11 Authors
Montes-Cano, Marco Antonio; Conde-Jaldón, Marta; García-Lozano, José Raul; Ortiz-Fernández, Lourdes; Ortego-Centeno, Norberto; Castillo-Palma, María Jesús; Espinosa, Gerard; Graña-Gil, Genaro; González-Gay, Miguel Ángel; Barnosi-Marín, Ana Celia; Solans, Roser; Fanlo, Patricia; Camps, Teresa; Castañeda, Santos; Sánchez-Bursón, Juan; Núñez-Roldán, Antonio; Martín, Javier; González-Escribano, María Francisca;
HLA and non-HLA genes in Behçet’s disease: a multicentric study in the Spanish population
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.
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Adult, Male, Medical Subject Headings::Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Peptides::Intercellular Signaling Peptides and Proteins::Cytokines::Interleukins::Interleukin-10, Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Statistics as Topic::Probability::Risk::Risk Factors, Genotype, Immunology, Medical Subject Headings::Diseases::Stomatognathic Diseases::Mouth Diseases::Behcet Syndrome, Medical Subject Headings::Geographicals::Geographic Locations::Europe::Spain, Medical Subject Headings::Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Proteins::Membrane Proteins::Receptors, Cell Surface::Receptors, Immunologic::Receptors, Cytokine::Receptors, Interleukin, Medical Subject Headings::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, Polymorphism, Single Nucleotide, Medical Subject Headings::Chemicals and Drugs::Biological Factors::Antigens::Antigens, Surface::Histocompatibility Antigens::HLA Antigens, Medical Subject Headings::Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans, Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genotype, Rheumatology, Gene Frequency, Medical Subject Headings::Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Proteins::Glycoproteins::Membrane Glycoproteins::Histocompatibility Antigens Class I::HLA-A Antigens, HLA Antigens, Risk Factors, Medical Subject Headings::Named Groups::Persons::Age Groups::Adult, Immunology and Allergy, Humans, Genetic Predisposition to Disease, Medical Subject Headings::Named Groups::Persons::Age Groups::Adult::Middle Aged, Medical Subject Headings::Diseases::Pathological Conditions, Signs and Symptoms::Pathologic Processes::Disease Attributes::Disease Susceptibility::Genetic Predisposition to Disease, HLA-A Antigens, Behcet Syndrome, Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Variation::Polymorphism, Genetic::Polymorphism, Single Nucleotide, Medical Subject Headings::Check Tags::Female, Receptors, Interleukin, Middle Aged, Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Gene Frequency, Interleukin-10, Medical Subject Headings::Check Tags::Male, Logistic Models, Medical Subject Headings::Chemicals and Drugs::Biological Factors::Antigens::Antigens, Surface::Histocompatibility Antigens::HLA Antigens::HLA-B Antigens::HLA-B35 Antigen, Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Models, Theoretical::Models, Statistical::Logistic Models, HLA-B Antigens, HLA-B51 Antigen, Female, HLA-B35 Antigen, Research Article, Genome-Wide Association Study
Adult, Male, Medical Subject Headings::Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Peptides::Intercellular Signaling Peptides and Proteins::Cytokines::Interleukins::Interleukin-10, Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Statistics as Topic::Probability::Risk::Risk Factors, Genotype, Immunology, Medical Subject Headings::Diseases::Stomatognathic Diseases::Mouth Diseases::Behcet Syndrome, Medical Subject Headings::Geographicals::Geographic Locations::Europe::Spain, Medical Subject Headings::Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Proteins::Membrane Proteins::Receptors, Cell Surface::Receptors, Immunologic::Receptors, Cytokine::Receptors, Interleukin, Medical Subject Headings::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, Polymorphism, Single Nucleotide, Medical Subject Headings::Chemicals and Drugs::Biological Factors::Antigens::Antigens, Surface::Histocompatibility Antigens::HLA Antigens, Medical Subject Headings::Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans, Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genotype, Rheumatology, Gene Frequency, Medical Subject Headings::Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Proteins::Glycoproteins::Membrane Glycoproteins::Histocompatibility Antigens Class I::HLA-A Antigens, HLA Antigens, Risk Factors, Medical Subject Headings::Named Groups::Persons::Age Groups::Adult, Immunology and Allergy, Humans, Genetic Predisposition to Disease, Medical Subject Headings::Named Groups::Persons::Age Groups::Adult::Middle Aged, Medical Subject Headings::Diseases::Pathological Conditions, Signs and Symptoms::Pathologic Processes::Disease Attributes::Disease Susceptibility::Genetic Predisposition to Disease, HLA-A Antigens, Behcet Syndrome, Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Variation::Polymorphism, Genetic::Polymorphism, Single Nucleotide, Medical Subject Headings::Check Tags::Female, Receptors, Interleukin, Middle Aged, Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Gene Frequency, Interleukin-10, Medical Subject Headings::Check Tags::Male, Logistic Models, Medical Subject Headings::Chemicals and Drugs::Biological Factors::Antigens::Antigens, Surface::Histocompatibility Antigens::HLA Antigens::HLA-B Antigens::HLA-B35 Antigen, Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Models, Theoretical::Models, Statistical::Logistic Models, HLA-B Antigens, HLA-B51 Antigen, Female, HLA-B35 Antigen, Research Article, Genome-Wide Association Study
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