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 GC...
| Autores: | , , , , , , , , , , , , , , , , , , , , , |
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| Tipo de recurso: | artículo |
| Estado: | Versión publicada |
| Fecha de publicación: | 2014 |
| País: | España |
| Institución: | Universidad de Barcelona |
| Repositorio: | Dipòsit Digital de la UB |
| OAI Identifier: | oai:diposit.ub.edu:2445/118222 |
| Acceso en línea: | https://hdl.handle.net/2445/118222 |
| Access Level: | acceso abierto |
| Palabra clave: | Arteritis de cèl·lules gegants Interleucines Genètica mèdica Giant cell arteritis Interleukins Medical genetics |
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A Candidate Gene Approach Identifies an IL33 Genetic Variant as a Novel Genetic Risk Factor for GCA.Márquez, AnaSolans, RoserHernández Rodríguez, JoséCid Xutglà, M. CintaCastañeda, SantosRamentol, MarcRodríguez-Rodríguez, LuisNarváez García, Francisco JavierBlanco, RicardoOrtego Centeno, NorbertoPalm, OyvindDiamantopoulos, Andreas P.Braun, NikoMoosig, FrankWitte, TorstenBeretta, LorenzoLunardi, ClaudioCimmino, Marco A.Vaglio, AugustoSalvarani, CarloGonzález-Gay, Miguel A.Martín, JavierArteritis de cèl·lules gegantsInterleucinesGenètica mèdicaGiant cell arteritisInterleukinsMedical geneticsIntroduction 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.Public Library of Science (PLoS)2014info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfhttps://hdl.handle.net/2445/118222Articles publicats en revistes (Medicina)reponame:Dipòsit Digital de la UBinstname:Universidad de BarcelonaInglésReproducció del document publicat a: https://doi.org/10.1371/journal.pone.0113476PLoS One, 2014, vol. 9, num. 11, p. e113476https://doi.org/10.1371/journal.pone.0113476cc-by (c) Márquez, Ana et al., 2014http://creativecommons.org/licenses/by/3.0/esinfo:eu-repo/semantics/openAccessoai:diposit.ub.edu:2445/1182222026-05-27T06:46:51Z |
| dc.title.none.fl_str_mv |
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. |
| spellingShingle |
A Candidate Gene Approach Identifies an IL33 Genetic Variant as a Novel Genetic Risk Factor for GCA. Márquez, Ana Arteritis de cèl·lules gegants Interleucines Genètica mèdica Giant cell arteritis Interleukins Medical genetics |
| title_short |
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_sort |
A Candidate Gene Approach Identifies an IL33 Genetic Variant as a Novel Genetic Risk Factor for GCA. |
| dc.creator.none.fl_str_mv |
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 |
| author |
Márquez, Ana |
| author_facet |
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 |
| author_role |
author |
| author2 |
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 |
| author2_role |
author author author author author author author author author author author author author author author author author author author author author |
| dc.subject.none.fl_str_mv |
Arteritis de cèl·lules gegants Interleucines Genètica mèdica Giant cell arteritis Interleukins Medical genetics |
| topic |
Arteritis de cèl·lules gegants Interleucines Genètica mèdica Giant cell arteritis Interleukins Medical genetics |
| 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 (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. |
| publishDate |
2014 |
| dc.date.none.fl_str_mv |
2014 |
| dc.type.none.fl_str_mv |
info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion |
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article |
| status_str |
publishedVersion |
| dc.identifier.none.fl_str_mv |
https://hdl.handle.net/2445/118222 |
| url |
https://hdl.handle.net/2445/118222 |
| dc.language.none.fl_str_mv |
Inglés |
| language_invalid_str_mv |
Inglés |
| dc.relation.none.fl_str_mv |
Reproducció del document publicat a: https://doi.org/10.1371/journal.pone.0113476 PLoS One, 2014, vol. 9, num. 11, p. e113476 https://doi.org/10.1371/journal.pone.0113476 |
| dc.rights.none.fl_str_mv |
cc-by (c) Márquez, Ana et al., 2014 http://creativecommons.org/licenses/by/3.0/es info:eu-repo/semantics/openAccess |
| rights_invalid_str_mv |
cc-by (c) Márquez, Ana et al., 2014 http://creativecommons.org/licenses/by/3.0/es |
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openAccess |
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application/pdf |
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Public Library of Science (PLoS) |
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Public Library of Science (PLoS) |
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Articles publicats en revistes (Medicina) reponame:Dipòsit Digital de la UB instname:Universidad de Barcelona |
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Universidad de Barcelona |
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Dipòsit Digital de la UB |
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Dipòsit Digital de la UB |
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