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...
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| Format: | Article |
| Status: | Published version |
| Publication date: | 2014 |
| Country: | España |
| Institution: | Universidad de Barcelona |
| Repository: | Dipòsit Digital de la UB |
| OAI Identifier: | oai:diposit.ub.edu:2445/118222 |
| Online Access: | https://hdl.handle.net/2445/118222 |
| Access Level: | Open access |
| Keyword: | Arteritis de cèl·lules gegants Interleucines Genètica mèdica Giant cell arteritis Interleukins Medical genetics |
| _version_ | 1878733592855576577 |
|---|---|
| author | Márquez, Ana |
| 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 |
| author_browse | Beretta, Lorenzo Blanco, Ricardo Braun, Niko Castañeda, Santos Cid Xutglà, M. Cinta Cimmino, Marco A. Diamantopoulos, Andreas P. González-Gay, Miguel A. Hernández Rodríguez, José Lunardi, Claudio Martín, Javier Moosig, Frank Márquez, Ana Narváez García, Francisco Javier Ortego Centeno, Norberto Palm, Oyvind Ramentol, Marc Rodríguez-Rodríguez, Luis Salvarani, Carlo Solans, Roser Vaglio, Augusto Witte, Torsten |
| 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 |
| collection | Dipòsit Digital de la UB |
| 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. |
| eu_rights_str_mv | openAccess |
| format | article |
| id | ES_59385bcdca2afd08d11c0dceb4bf2da0 |
| institution | Universidad de Barcelona |
| instname_str | Universidad de Barcelona |
| network_acronym_str | ES |
| network_name_str | España |
| oai_identifier_str | oai:diposit.ub.edu:2445/118222 |
| publishDate | 2014 |
| publishDateSort | 2014 |
| publisher | Public Library of Science (PLoS) |
| publisherStr | Public Library of Science (PLoS) |
| reponame_str | Dipòsit Digital de la UB |
| spelling | 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 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 Arteritis de cèl·lules gegants Interleucines Genètica mèdica Giant cell arteritis Interleukins Medical genetics 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. Public Library of Science (PLoS) https://hdl.handle.net/2445/118222 |
| 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 |
| status_str | publishedVersion |
| 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 | A Candidate Gene Approach Identifies an IL33 Genetic Variant as a Novel Genetic Risk Factor for GCA. |
| topic | Arteritis de cèl·lules gegants Interleucines Genètica mèdica Giant cell arteritis Interleukins Medical genetics |
| topic_facet | Arteritis de cèl·lules gegants Interleucines Genètica mèdica Giant cell arteritis Interleukins Medical genetics |
| url | https://hdl.handle.net/2445/118222 |