Please use this identifier to cite or link to this item: http://hdl.handle.net/10668/601
Title: Analysis of TNFAIP3, a feedback inhibitor of nuclear factor-κB and the neighbor intergenic 6q23 region in rheumatoid arthritis susceptibility
Authors: Dieguez-Gonzalez, Rebeca
Calaza, Manuel
Perez-Pampin, Eva
Balsa, Alejandro
Blanco, Francisco J
Cañete, Juan D
Cáliz, Rafael
Carreño, Luís
Serna, Arturo R de la
Fernandez-Gutierrez, Benjamín
Ortiz, Ana Maria
Herrero-Beaumont, Gabriel
Pablos, Jose L
Narvaez, Javier
Navarro, Federico
Marenco, Jose L
Gomez-Reino, Juan J
Gonzalez, Antonio
metadata.dc.contributor.authoraffiliation: [Dieguez-Gonzalez,R; Calaza,M; Perez-Pampin,E; Gomez-Reino,JJ] Laboratorio de Investigacion 2 and Rheumatology Unit, Hospital Clinico Universitario de Santiago, Santiago de Compostela, Spain. [Balsa,A] Rheumatology Unit, Hospital La Paz, Madrid, Spain. [Blanco,FJ] Laboratorio de Investigación Osteoarticular y del Envejecimiento, Servicio de Reumatología, Hospital Universitario Juan Canalejo, A Coruña, Spain. [Cañete,JD] Arthritis Unit, Rheumatology Department, Hospital Clinic, Institut d'Investigacions Biomèdiques August Pi I Sunyer, Barcelona, Spain. [Caliz,R] Rheumatology Unit, Hospital Universitario Virgen de las Nieves, Granada, Spain. [Carreño,L] Rheumatology Unit, Hospital Universitario Gregorio Marañon, Madrid, Spain. [Serna,AR de la] Rheumatology Unit, Hopital Santa Creu e San Pau, Barcelona, Spain. [Fernandez-Gutierrez,B] Rheumatology Unit, Hospital Clinico San Carlos, Madrid, Spain.[Ortiz,AM] Rheumatology Unit, Hospital Universitario La Princesa, Madrid, Spain. [ Herrero-Beaumont,G] Rheumatology Unit, Fundación Jimenez Diaz, Madrid, Spain. [ Pablos,JL] Rheumatology Unit, Hospital 12 de Octubre, Madrid, Spain. [Narvaez,J] Rheumatology Unit, Hospital Universitario de Bellvitge, Barcelona, Spain. [Navarro,F] Rheumatology Unit, Hospital Univesitario Virgen Macarena, Sevilla,Spain.[Marenco,JL] Rheumatology Unit, Hospital Universitario de Valme, Sevilla, Spain. [Gomez-Reino,JJ] Department of Medicine, University of Santiago de Compostela, Santiago de Compostela, Spain.
Keywords: Intracellular Signaling Peptides and Proteins;NF-kappa B;Nuclear Proteins;TNFAIP3 protein, human;Humanos;Péptidos y Proteínas de Señalización Intracelular;Realizador del VIH;Proteínas Nucleares;Reacción en Cadena de la Polimerasa;Polimorfismo de Nucleótido Simple;DNA, Intergenic;Cromosomas Humanos Par 6;ADN Intergénico;Predisposición Genética a la Enfermedad;Estudio de Asociación del Genoma Completo;Péptidos y Proteínas de Señalización Intracelular;Artritis Reumatoide
metadata.dc.subject.mesh: Medical Subject Headings::Anatomy::Cells::Cellular Structures::Chromosomes::Chromosomes, Mammalian::Chromosomes, Human::Chromosomes, Human, 6-12 and X::Chromosomes, Human, Pair 6
Medical Subject Headings::Chemicals and Drugs::Nucleic Acids, Nucleotides, and Nucleosides::Nucleic Acids::DNA::DNA, Intergenic
Medical Subject Headings::Diseases::Pathological Conditions, Signs and Symptoms::Pathologic Processes::Disease Attributes::Disease Susceptibility::Genetic Predisposition to Disease
Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Genetic Techniques::Genetic Association Studies::Genome-Wide Association Study
Medical Subject Headings::Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans
Medical Subject Headings::Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Peptides::Intracellular Signaling Peptides and Proteins
Medical Subject Headings::Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Proteins::DNA-Binding Proteins::NF-kappa B
Medical Subject Headings::Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Proteins::Nuclear Proteins
Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Genetic Techniques::Nucleic Acid Amplification Techniques::Polymerase Chain Reaction
Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Variation::Polymorphism, Genetic::Polymorphism, Single Nucleotide
Medical Subject Headings::Diseases::Musculoskeletal Diseases::Joint Diseases::Arthritis::Arthritis, Rheumatoid
Issue Date: 17-Mar-2009
Publisher: BioMed Central
Citation: Dieguez-Gonzalez R, Calaza M, Perez-Pampin E, Balsa A, Blanco FJ, Cañete JD, et al. Analysis of TNFAIP3, a feedback inhibitor of nuclear factor-kappaB and the neighbor intergenic 6q23 region in rheumatoid arthritis susceptibility. Arthritis Res Ther. 2009;11(2):R42
Abstract: INTRODUCTION Genome-wide association studies of rheumatoid arthritis (RA) have identified an association of the disease with a 6q23 region devoid of genes. TNFAIP3, an RA candidate gene, flanks this region, and polymorphisms in both the TNFAIP3 gene and the intergenic region are associated with systemic lupus erythematosus. We hypothesized that there is a similar association with RA, including polymorphisms in TNFAIP3 and the intergenic region. METHODS To test this hypothesis, we selected tag-single nucleotide polymorphisms (SNPs) in both loci. They were analyzed in 1,651 patients with RA and 1,619 control individuals of Spanish ancestry. RESULTS Weak evidence of association was found both in the 6q23 intergenic region and in the TNFAIP3 locus. The rs582757 SNP and a common haplotype in the TNFAIP3 locus exhibited association with RA. In the intergenic region, two SNPs were associated, namely rs609438 and rs13207033. The latter was only associated in patients with anti-citrullinated peptide antibodies. Overall, statistical association was best explained by the interdependent contribution of SNPs from the two loci TNFAIP3 and the 6q23 intergenic region. CONCLUSIONS Our data are consistent with the hypothesis that several RA genetic factors exist in the 6q23 region, including polymorphisms in the TNFAIP3 gene, like that previously described for systemic lupus erythematosus.
Description: Journal Article; Research Support, Non-U.S. Gov't;
URI: http://hdl.handle.net/10668/601
metadata.dc.relation.publisherversion: http://arthritis-research.com/content/11/2/R42
metadata.dc.identifier.doi: 10.1186/ar2650
ISSN: 1478-6354 (Print)
1478-6362 (Online)
Appears in Collections:01- Artículos - Hospital de Valme
01- Artículos - Hospital Virgen de las Nieves
01- Artículos - Hospital Virgen Macarena

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