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PLoS One. 2014 Nov 19;9(11):e113476. doi: 10.1371/journal.pone.0113476. eCollection 2014.

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

Author information

1
Instituto de Parasitología y Biomedicina López-Neyra, CSIC, Granada, Spain; Systemic Autoimmune Diseases Unit, Hospital Clínico San Cecilio, Granada, Spain.
2
Department of Internal Medicine, Hospital Vall d'Hebron, Barcelona, Spain.
3
Vasculitis Research Unit, Department of Autoimmune and Systemic Diseases, Hospital Clinic, University of Barcelona, Centre de Recerca Biomèdica Cellex (IDIBAPS), Barcelona, Spain.
4
Department of Rheumatology, Hospital de la Princesa, IIS-Princesa, Madrid, Spain.
5
Department of Rheumatology, Hospital Clínico San Carlos, Madrid, Spain.
6
Department of Rheumatology, Hospital Universitario de Bellvitge-IDIBELL, L'Hospitalet de Llobregat, Barcelona, Spain.
7
Department of Rheumatology, Hospital Universitario Marqués de Valdecilla, IFIMAV, Santander, Spain.
8
Systemic Autoimmune Diseases Unit, Hospital Clínico San Cecilio, Granada, Spain.
9
Department of Rheumatology, Oslo University Hospital Rikshospitalet, Oslo, Norway.
10
Department of Rheumatology, Hospital of Southern Norway Trust, Kristiansand, Norway.
11
Department of Internal Medicine, Division of Nephrology, Robert-Bosch-Hospital, Stuttgart, Germany.
12
Department of Clinical Immunology and Rheumatology, University of Luebeck, Bad Bramstedt, Germany.
13
Hannover Medical School, Hannover, Germany.
14
Referral Center for Systemic Autoimmune Diseases, Fondazione IRCCS Ca'Granda Ospedale Maggiore Policlinico di Milano, Milan, Italy.
15
Department of Medicine, Università degli Studi di Verona, Verona, Italy.
16
Department of Internal Medicine, Academic Unit of Clinical Rheumatology, University of Genova, Genova, Italy.
17
Department of Clinical Medicine, Nephrology and Health Sciences, University Hospital of Parma, Parma, Italy.
18
Unità Operativa di Reumatologia, Azienda Ospedaliera ASMN, Istituto di Ricovero e Cura a Carattere Scientifico, Reggio Emilia, Italy.
19
Instituto de Parasitología y Biomedicina López-Neyra, CSIC, Granada, Spain.

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.

PMID:
25409453
PMCID:
PMC4237421
DOI:
10.1371/journal.pone.0113476
[Indexed for MEDLINE]
Free PMC Article

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