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Title: A Candidate Gene Approach Identifies an IL33 Genetic Variant as a Novel Genetic Risk Factor for GCA.
Author: Márquez, Ana
Solans, Roser
Hernández Rodríguez, José
Cid Xutglà, M. Cinta
Castañeda, Santos
Ramentol, Marc
Rodríguez-Rodríguez, Luis
Narváez García, Francisco Javier
Blanco, Ricardo
Ortego Centeno, Norberto
Palm, Oyvind
Diamantopoulos, Andreas P.
Braun, Niko
Moosig, Frank
Witte, Torsten
Beretta, Lorenzo
Lunardi, Claudio
Cimmino, Marco A.
Vaglio, Augusto
Salvarani, Carlo
González-Gay, Miguel A.
Martín, Javier
Keywords: Arteritis de cèl·lules gegants
Genètica mèdica
Giant cell arteritis
Medical genetics
Issue Date: 19-Nov-2014
Publisher: Public Library of Science (PLoS)
Abstract: Introduction Increased expression of IL-33 and its receptor ST2, encoded by the IL1RL1 gene, has been detected in the inflamed arteries of giant cell arteritis (GCA) patients. The aim of the present study was to investigate for the first time the potential influence of the IL33 and IL1RL1 loci on GCA predisposition. Methods A total of 1,363 biopsy-proven GCA patients and 3,908 healthy controls from four European cohorts (Spain, Italy, Germany and Norway) were combined in a meta-analysis. Six genetic variants: rs3939286, rs7025417 and rs7044343, within the IL33 gene, and rs2058660, rs2310173 and rs13015714, within the IL1RL1 gene, previously associated with immune-related diseases, were genotyped using predesigned TaqMan assays. Results A consistent association between the rs7025417 polymorphism and GCA was evident in the overall meta-analysis, under both allele (PMH = 0.041, OR = 0.88, CI 95% 0.78-0.99) and recessive (PMH = 3.40E-03, OR = 0.53, CI 95% 0.35-0.80) models. No statistically significant differences between allele or genotype frequencies for the other IL33 and IL1RL1 genetic variants were detected in this pooled analysis. Conclusions Our results clearly evidenced the implication of the IL33 rs7025417 polymorphism in the genetic network underlying GCA.
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It is part of: PLoS One, 2014, vol. 9, num. 11, p. e113476
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ISSN: 1932-6203
Appears in Collections:Articles publicats en revistes (Medicina)

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