Please use this identifier to cite or link to this item: http://hdl.handle.net/10668/402
Título : CD40: Novel Association with Crohn's Disease and Replication in Multiple Sclerosis Susceptibility
Autor : Blanco-Kelly, Fiona
Matesanz, Fuencisla
Alcina, Antonio
Teruel, María
Díaz-Gallo, Lina M.
Gómez-García, María
López-Nevot, Miguel A.
Rodrigo, Luis
Nieto, Antonio
Cardeña, Carlos
Alcain, Guillermo
Díaz-Rubio, Manuel
G. de la Concha, Emilio
Fernandez, Oscar
Arroyo, Rafael
Martín, Javier
Urcelay, Elena
Filiación: [Blanco-Kelly,F; G.de la Concha,E; Urcelay,E] Department of Clinical Immunology, Hospital Clínico San Carlos, Madrid, Spain.[Matesanz,F; Alcina,A; Teruel,M; Díaz-Gallo,LM; Martín,J] Instituto Parasitología y Biomedicina “López Neyra”, C. S. I. C., Granada, Spain. [Gómez-García,M] Servicio de Digestivo, Hospital Universitario Virgen de las Nieves, Granada, Spain. [López-Nevot,MA] Servicio de Inmunología, Hospital Universitario Virgen de las Nieves, Granada, Spain. [Rodrigo,L] Servicio de Digestivo, Hospital Universitario Central de Asturias, Oviedo, Spain. [Nieto,A] Servicio de Inmunología, Hospital Puerta del Mar, Cádiz, Spain. [Cardeña,C] Servicio de Digestivo, Hospital Clínico San Cecilio, Granada, Spain. [Alcain,G] Servicio de Digestivo, Hospital Virgen de la Victoria, Málaga, Spain. [Díaz-Rubio,M] Digestive Department, Hospital Clínico San Carlos, Madrid, Spain. [Fernandez,O] Servicio de Neurología, Instituto de Neurociencias Clínicas, Hospital Carlos Haya, Málaga, Spain. [Arroyo,R] Multiple Sclerosis Unit, Neurology Department, Hospital Clínico San Carlos, Madrid, Spain. [Arroyo,R; Urcelay,E] Members of the Red Española de Esclerosis Múltiple (REEM)
Palabras clave : Adulto
Alelos
Antígenos CD40
Colitis Ulcerosa
Enfermedad de Crohn
Frecuencia de los Genes
Predisposición Genética a la Enfermedad
Genotipo
Humanos
Esclerosis Múltiple
Polimorfismo Genético
MeSH: Medical Subject Headings::Named Groups::Persons::Age Groups::Adult
Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Genome Components::Genes::Alleles
Medical Subject Headings::Chemicals and Drugs::Biological Factors::Antigens::Antigens, Surface::Antigens, Differentiation::Antigens, CD::Antigens, CD40
Medical Subject Headings::Diseases::Digestive System Diseases::Gastrointestinal Diseases::Intestinal Diseases::Colonic Diseases::Colitis::Colitis, Ulcerative
Medical Subject Headings::Diseases::Digestive System Diseases::Gastrointestinal Diseases::Intestinal Diseases::Inflammatory Bowel Diseases::Crohn Disease
Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Gene Frequency
Medical Subject Headings::Diseases::Pathological Conditions, Signs and Symptoms::Pathologic Processes::Disease Attributes::Disease Susceptibility::Genetic Predisposition to Disease
Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genotype
Medical Subject Headings::Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans
Medical Subject Headings::Diseases::Immune System Diseases::Autoimmune Diseases::Autoimmune Diseases of the Nervous System::Demyelinating Autoimmune Diseases, CNS::Multiple Sclerosis
Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Variation::Polymorphism, Genetic
Fecha de publicación : 12-Jul-2010
Editorial : Public Library of Science
Cita Bibliográfica: Blanco-Kelly F, Matesanz F, Alcina A, Teruel M, Díaz-Gallo LM, Gómez-García M et al. CD40: Novel Association with Crohn's Disease and Replication in Multiple Sclerosis Susceptibility. PLoS One. 2010 Jul 12;5(7):e11520.
Abstract: Background: A functional polymorphism located at 21 from the start codon of the CD40 gene, rs1883832, was previously reported to disrupt a Kozak sequence essential for translation. It has been consistently associated with Graves’ disease risk in populations of different ethnicity and genetic proxies of this variant evaluated in genome-wide association studies have shown evidence of an effect in rheumatoid arthritis and multiple sclerosis (MS) susceptibility. However, the protective allele associated with Graves’ disease or rheumatoid arthritis has shown a risk role in MS, an effect that we aimed to replicate in the present work. We hypothesized that this functional polymorphism might also show an association with other complex autoimmune condition such as inflammatory bowel disease, given the CD40 overexpression previously observed in Crohn’s disease (CD) lesions. Methodology: Genotyping of rs1883832C.T was performed in 1564 MS, 1102 CD and 969 ulcerative colitis (UC) Spanish patients and in 2948 ethnically matched controls by TaqMan chemistry. Principal Findings: The observed effect of the minor allele rs1883832T was replicated in our independent Spanish MS cohort [p= 0.025; OR (95% CI)= 1.12 (1.01–1.23)]. The frequency of the minor allele was also significantly higher in CD patients than in controls [p= 0.002; OR (95% CI)= 1.19 (1.06–1.33)]. This increased predisposition was not detected in UC patients [p= 0.5; OR (95% CI)= 1.04 (0.93–1.17)]. Conclusion: The impact of CD40 rs1883832 on MS and CD risk points to a common signaling shared by these autoimmune conditions
Descripción : Formal Correction: This article has been formally corrected to address the following errors. The values in the first column of table 1 were published incorrectly. Please view the corrected table here:http://www.plosone.org/annotation/listThread.action?inReplyTo=6983&root=6983
URI: http://hdl.handle.net/10668/402
Versión del editor : http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0011520
DOI: 10.1371/journal.pone.0011520
ISSN : 1932-6203 (Online)
Appears in Collections:01- Artículos - Hospital Regional de Málaga
01- Artículos - Hospital Virgen de la Victoria
01- Artículos - Hospital San Cecilio
01- Artículos - Hospital Puerta del Mar
01- Artículos - Hospital Virgen de las Nieves

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