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

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 (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.

Otras publicaciones de la misma revista o congreso con autores/as de la Universidad de Cantabria

 Fuente: PLoS One. 2014 Nov 19;9(11):e113476

Editorial: Public Library of Science

 Fecha de publicación: 19/11/2014

Nº de páginas: 7

Tipo de publicación: Artículo de Revista

 DOI: 10.1371/journal.pone.0113476

ISSN: 1932-6203

Proyecto español: RD08/0075/0011 ; CTS-180 ; SAF 11/30073 ; DFG WI 1031/6.1

Autores/as

MÁRQUEZ, ANA

SOLANS, ROSER

HERNÁNDEZ RODRÍGUEZ, JOSÉ

CID, MARÍA C.

CASTAÑEDA, SANTOS

RAMENTOL, MARC

RODRÍGUEZ RODRÍGUEZ, LUIS

NARVÁEZ, JAVIER

RICARDO BLANCO ALONSO

ORTEGO CENTENO, NORBERTO

SPANISH GCA CONSORTIUM

PALM, OYVIND

DIAMANTOPOULOS, ANDREAS P.

BRAUN, NIKO

MOOSIG, FRANK

WITTE, TORSTEN

BERETTA, LORENZO

LUNARDI, CLAUDIO

CIMMINO, MARCO A.

VAGLIO, AUGUSTO

MARTÍN, JAVIER