RT Journal Article
T1 CD40: Novel Association with Crohn's Disease and Replication in Multiple Sclerosis Susceptibility
A1 Blanco-Kelly, Fiona
A1 Matesanz, Fuencisla
A1 Alcina, Antonio
A1 Teruel, María
A1 Díaz-Gallo, Lina M.
A1 Gómez-García, María
A1 López-Nevot, Miguel A.
A1 Rodrigo, Luis
A1 Nieto, Antonio
A1 Cardeña, Carlos
A1 Alcain, Guillermo
A1 Díaz-Rubio, Manuel
A1 G. de la Concha, Emilio
A1 Fernandez, Oscar
A1 Arroyo, Rafael
A1 Martín, Javier
A1 Urcelay, Elena
K1 Adulto
K1 Alelos
K1 Antígenos CD40
K1 Colitis Ulcerosa
K1 Enfermedad de Crohn
K1 Frecuencia de los Genes
K1 Predisposición Genética a la Enfermedad
K1 Genotipo
K1 Humanos
K1 Esclerosis Múltiple
K1 Polimorfismo Genético
AB 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
PB Public Library of Science
YR 2010
FD 2010-07-12
LK http://hdl.handle.net/10668/402
UL http://hdl.handle.net/10668/402
LA en
NO 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.
NO 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
DS RISalud
RD Apr 7, 2025