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Title: Brief Report: IRF4 Newly Identified as a Common Susceptibility Locus for Systemic Sclerosis and Rheumatoid Arthritis in a Cross-Disease Meta-Analysis of Genome-Wide Association Studies.
Authors: López-Isac, Elena
Martín, Jose-Ezequiel
Assassi, Shervin
Simeón, Carmen P
Carreira, Patricia
Ortego-Centeno, Norberto
Freire, Mayka
Beltrán, Emma
Narváez, Javier
Alegre-Sancho, Juan J
Spanish Scleroderma Group
Fernández-Gutiérrez, Benjamín
Balsa, Alejandro
Ortiz, Ana M
González-Gay, Miguel A
Beretta, Lorenzo
Santaniello, Alessandro
Bellocchi, Chiara
Lunardi, Claudio
Moroncini, Gianluca
Gabrielli, Armando
Witte, Torsten
Hunzelmann, Nicolas
Distler, Jörg H W
Riekemasten, Gabriella
van der Helm-van Mil, Annette H
de Vries-Bouwstra, Jeska
Magro-Checa, Cesar
Voskuyl, Alexandre E
Vonk, Madelon C
Molberg, Øyvind
Merriman, Tony
Hesselstrand, Roger
Nordin, Annika
Padyukov, Leonid
Herrick, Ariane
Eyre, Steve
Koeleman, Bobby P C
Denton, Christopher P
Fonseca, Carmen
Radstake, Timothy R D J
Worthington, Jane
Mayes, Maureen D
Martín, Javier
metadata.dc.subject.mesh: Arthritis, Rheumatoid
Genetic Loci
Genetic Predisposition to Disease
Genome-Wide Association Study
Interferon Regulatory Factors
Risk Factors
Scleroderma, Systemic
Issue Date: 2016
Abstract: Systemic sclerosis (SSc) and rheumatoid arthritis (RA) are autoimmune diseases that have similar clinical and immunologic characteristics. To date, several shared SSc-RA genetic loci have been identified independently. The aim of the current study was to systematically search for new common SSc-RA loci through an interdisease meta-genome-wide association (meta-GWAS) strategy. The study was designed as a meta-analysis combining GWAS data sets of patients with SSc and patients with RA, using a strategy that allowed identification of loci with both same-direction and opposite-direction allelic effects. The top single-nucleotide polymorphisms were followed up in independent SSc and RA case-control cohorts. This allowed an increase in the sample size to a total of 8,830 patients with SSc, 16,870 patients with RA, and 43,393 healthy controls. This cross-disease meta-analysis of the GWAS data sets identified several loci with nominal association signals (P  This study identified a novel shared locus, IRF4, for the risk of SSc and RA, and highlighted the usefulness of a cross-disease GWAS meta-analysis strategy in the identification of common risk loci.
metadata.dc.identifier.doi: 10.1002/art.39730
Appears in Collections:Producción 2020

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