RT Journal Article
T1 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.
A1 López-Isac, Elena
A1 Martín, Jose-Ezequiel
A1 Assassi, Shervin
A1 Simeón, Carmen P
A1 Carreira, Patricia
A1 Ortego-Centeno, Norberto
A1 Freire, Mayka
A1 Beltrán, Emma
A1 Narváez, Javier
A1 Alegre-Sancho, Juan J
A1 Spanish Scleroderma Group, 
A1 Fernández-Gutiérrez, Benjamín
A1 Balsa, Alejandro
A1 Ortiz, Ana M
A1 González-Gay, Miguel A
A1 Beretta, Lorenzo
A1 Santaniello, Alessandro
A1 Bellocchi, Chiara
A1 Lunardi, Claudio
A1 Moroncini, Gianluca
A1 Gabrielli, Armando
A1 Witte, Torsten
A1 Hunzelmann, Nicolas
A1 Distler, Jörg H W
A1 Riekemasten, Gabriella
A1 van der Helm-van Mil, Annette H
A1 de Vries-Bouwstra, Jeska
A1 Magro-Checa, Cesar
A1 Voskuyl, Alexandre E
A1 Vonk, Madelon C
A1 Molberg, Øyvind
A1 Merriman, Tony
A1 Hesselstrand, Roger
A1 Nordin, Annika
A1 Padyukov, Leonid
A1 Herrick, Ariane
A1 Eyre, Steve
A1 Koeleman, Bobby P C
A1 Denton, Christopher P
A1 Fonseca, Carmen
A1 Radstake, Timothy R D J
A1 Worthington, Jane
A1 Mayes, Maureen D
A1 Martín, Javier
AB 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.
YR 2016
FD 2016
LK http://hdl.handle.net/10668/10022
UL http://hdl.handle.net/10668/10022
LA en
DS RISalud
RD Apr 7, 2025