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3 results on '"Spanish GCA Consortium"'

1. A candidate gene approach identifies an IL33 genetic variant as a novel genetic risk factor for GCA.

Author

Ana Márquez, Roser Solans, José Hernández-Rodríguez, Maria C Cid, Santos Castañeda, Marc Ramentol, Luis Rodriguez-Rodriguez, Javier Narváez, Ricardo Blanco, Norberto Ortego-Centeno, Spanish GCA Consortium, Oyvind Palm, Andreas P Diamantopoulos, Niko Braun, Frank Moosig, Torsten Witte, Lorenzo Beretta, Claudio Lunardi, Marco A Cimmino, Augusto Vaglio, Carlo Salvarani, Miguel A González-Gay, and Javier Martín

Subjects
Medicine, Science
Abstract

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.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.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.Our results clearly evidenced the implication of the IL33 rs7025417 polymorphism in the genetic network underlying GCA.

Published
2014
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2. Identification of the PTPN22 functional variant R620W as susceptibility genetic factor for giant cell arteritis

Author

Serrano, A., Marquez, A., Mackie, S.L., Carmona, F.D., Solans, R., Miranda-Filloy, J.A., Hernandez-Rodriguez, J., Cid, M.C., Castaneda, S., Morado, I.C., Narvaez, J., Blanco, R., Sopena, B., Garcia-Villanueva, M.J., Monfort, J., Ortego-Centeno, N., Unzurrunzaga, A., Mari-Alfonso, B., Sanchez-Martin, J., Miguel, E. de, Magro, C., Raya, E., Braun, N., Latus, J., Molberg, O., Lie, B.A., Moosig, F., Witte, T., Morgan, A.W., Gonzalez-Gay, M.A., Martin, J., UK GCA Consortium, and Spanish GCA Consortium

Subjects
Gene Polymorphism, Polymyalgia Rheumatica, Giant Cell Arteritis
Published
2013

3. Influence of the IL17A locus in giant cell arteritis susceptibility

Author

Márquez, A., Hernández Rodríguez, José, Cid Xutglà, M. Cinta, Solans, Roser, Castañeda, Santos, Fernández-Contreras, M. E., Ramentol, Marc, Morado, Inmaculada C., Narváez García, Francisco Javier, Gómez Vaquero, Carmen, Martínez-Taboada, V. M., Ortego Centeno, Norberto, Sopeña, Bernardo, Monfort, J., García-Villanueva, María Jesús, Caminal Montero, L., Miguel, E. de, Blanco, Ricardo, Spanish GCA Consortium, Palm, O., Molberg, O, Latus, J., Braun, Niko, Moosig, F., Witte, Torsten, Beretta, Lorenzo, Santaniello, Alessandro, Pazzola, Giulia, Boiardi, Luigi, Salvarani, Carlo, González-Gay, Miguel A., Martín, Javier, and Universitat de Barcelona

Subjects
Genotype, Immunology, Giant Cell Arteritis, Locus (genetics), Biology, Genetic polymorphisms, General Biochemistry, Genetics and Molecular Biology, Rheumatology, Gene Frequency, medicine, Genetics, Immunology and Allergy, Humans, Genetic Predisposition to Disease, Arteritis, Allele, Allele frequency, Arteritis de cèl·lules gegants, Giant cell arteritis, Polymorphism, Genetic, Polimorfisme genètic, Haplotype, Interleukin-17, medicine.disease, Meta-analysis, Haplotypes, Case-Control Studies, Gene polymorphism, Vasculitis, Cytokines, Gene Polymorphism, Genètica, Metaanàlisi
Abstract

Objective Different lines of evidence have highlighted the role of IL-17A in the inflammatory process occurring in giant cell arteritis (GCA). The aim of the present study was to assess whether the IL17A locus influences GCA susceptibility and its clinical subphenotypes. Methods We carried out a large meta-analysis including a total of 1266 biopsy-proven GCA patients and 3779 healthy controls from four European populations (Spain, Italy, Germany and Norway). Five IL17A polymorphisms (rs4711998, rs8193036, rs3819024, rs2275913 and rs7747909) were selected by tagging and genotyped using TaqMan assays. Allelic combination and dependency tests were also performed. Results In the pooled analysis, two of the five analysed polymorphisms showed evidence of association with GCA (rs2275913: P MH =1.85E−03, OR=1.17 (1.06–1.29); rs7747909: P MH =8.49E–03, OR=1.15 (1.04–1.27)). A clear trend of association was also found for the rs4711998 variant (P MH =0.059, OR=1.11 (1.00–1.23)). An independent effect of rs2275913 and rs4711998 was evident by conditional regression analysis. In addition, the haplotype harbouring the risk alleles better explained the observed association than the polymorphisms independently (likelihood p value −05 ). Conclusions Polymorphisms within the IL17A locus show a novel association with GCA. This finding supports the relevant role of the Th17 cells in this vasculitis pathophysiology.

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