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A Candidate Gene Approach Identifies an IL33 Genetic Variant as a Novel Genetic Risk Factor for GCA

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 G...

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Autores principales: Márquez, Ana, Solans, Roser, Hernández-Rodríguez, José, Cid, Maria C., Castañeda, Santos, Ramentol, Marc, Rodriguez-Rodriguez, Luis, Narváez, Javier, Blanco, Ricardo, Ortego-Centeno, Norberto, Palm, Øyvind, 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4237421/
https://www.ncbi.nlm.nih.gov/pubmed/25409453
http://dx.doi.org/10.1371/journal.pone.0113476
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author Márquez, Ana
Solans, Roser
Hernández-Rodríguez, José
Cid, Maria C.
Castañeda, Santos
Ramentol, Marc
Rodriguez-Rodriguez, Luis
Narváez, Javier
Blanco, Ricardo
Ortego-Centeno, Norberto
Palm, Øyvind
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
author_facet Márquez, Ana
Solans, Roser
Hernández-Rodríguez, José
Cid, Maria C.
Castañeda, Santos
Ramentol, Marc
Rodriguez-Rodriguez, Luis
Narváez, Javier
Blanco, Ricardo
Ortego-Centeno, Norberto
Palm, Øyvind
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
author_sort Márquez, Ana
collection PubMed
description 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 (P(MH) = 0.041, OR = 0.88, CI 95% 0.78–0.99) and recessive (P(MH) = 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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spelling pubmed-42374212014-11-21 A Candidate Gene Approach Identifies an IL33 Genetic Variant as a Novel Genetic Risk Factor for GCA Márquez, Ana Solans, Roser Hernández-Rodríguez, José Cid, Maria C. Castañeda, Santos Ramentol, Marc Rodriguez-Rodriguez, Luis Narváez, Javier Blanco, Ricardo Ortego-Centeno, Norberto Palm, Øyvind 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 PLoS One Research Article 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 (P(MH) = 0.041, OR = 0.88, CI 95% 0.78–0.99) and recessive (P(MH) = 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. Public Library of Science 2014-11-19 /pmc/articles/PMC4237421/ /pubmed/25409453 http://dx.doi.org/10.1371/journal.pone.0113476 Text en © 2014 Márquez et al http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are properly credited.
spellingShingle Research Article
Márquez, Ana
Solans, Roser
Hernández-Rodríguez, José
Cid, Maria C.
Castañeda, Santos
Ramentol, Marc
Rodriguez-Rodriguez, Luis
Narváez, Javier
Blanco, Ricardo
Ortego-Centeno, Norberto
Palm, Øyvind
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
A Candidate Gene Approach Identifies an IL33 Genetic Variant as a Novel Genetic Risk Factor for GCA
title A Candidate Gene Approach Identifies an IL33 Genetic Variant as a Novel Genetic Risk Factor for GCA
title_full A Candidate Gene Approach Identifies an IL33 Genetic Variant as a Novel Genetic Risk Factor for GCA
title_fullStr A Candidate Gene Approach Identifies an IL33 Genetic Variant as a Novel Genetic Risk Factor for GCA
title_full_unstemmed A Candidate Gene Approach Identifies an IL33 Genetic Variant as a Novel Genetic Risk Factor for GCA
title_short A Candidate Gene Approach Identifies an IL33 Genetic Variant as a Novel Genetic Risk Factor for GCA
title_sort candidate gene approach identifies an il33 genetic variant as a novel genetic risk factor for gca
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4237421/
https://www.ncbi.nlm.nih.gov/pubmed/25409453
http://dx.doi.org/10.1371/journal.pone.0113476
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