TY - JOUR
T1 - A candidate gene approach identifies an IL33 genetic variant as a novel genetic risk factor for GCA
AU - Spanish GCA Consortium
AU - Márquez, Ana
AU - Solans, Roser
AU - Hernández-Rodríguez, José
AU - Cid, Maria C
AU - Castañeda, Santos
AU - Ramentol, Marc
AU - Rodriguez-Rodriguez, Luis
AU - Narváez, Javier
AU - Blanco, Ricardo
AU - Ortego-Centeno, Norberto
AU - Palm, Oyvind
AU - Diamantopoulos, Andreas P
AU - Braun, Niko
AU - Moosig, Frank
AU - Witte, Torsten
AU - Beretta, Lorenzo
AU - Lunardi, Claudio
AU - Cimmino, Marco A
AU - Vaglio, Augusto
AU - Salvarani, Carlo
AU - González-Gay, Miguel A
AU - Martín, Javier
PY - 2014
Y1 - 2014
N2 - 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.
AB - 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.
U2 - 10.1371/journal.pone.0113476
DO - 10.1371/journal.pone.0113476
M3 - Journal articles
C2 - 25409453
SN - 1553-7390
VL - 9
SP - e113476
JO - PLoS ONE
JF - PLoS ONE
IS - 11
ER -