López-Isac, ElenaMartín, Jose-EzequielAssassi, ShervinSimeón, Carmen PCarreira, PatriciaOrtego-Centeno, NorbertoFreire, MaykaBeltrán, EmmaNarváez, JavierAlegre-Sancho, Juan JSpanish Scleroderma GroupFernández-Gutiérrez, BenjamínBalsa, AlejandroOrtiz, Ana MGonzález-Gay, Miguel ABeretta, LorenzoSantaniello, AlessandroBellocchi, ChiaraLunardi, ClaudioMoroncini, GianlucaGabrielli, ArmandoWitte, TorstenHunzelmann, NicolasDistler, Jörg H WRiekemasten, Gabriellavan der Helm-van Mil, Annette Hde Vries-Bouwstra, JeskaMagro-Checa, CesarVoskuyl, Alexandre EVonk, Madelon CMolberg, ØyvindMerriman, TonyHesselstrand, RogerNordin, AnnikaPadyukov, LeonidHerrick, ArianeEyre, SteveKoeleman, Bobby P CDenton, Christopher PFonseca, CarmenRadstake, Timothy R D JWorthington, JaneMayes, Maureen DMartín, Javier2023-01-252023-01-252016http://hdl.handle.net/10668/10022Systemic 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.enArthritis, RheumatoidGenetic LociGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansInterferon Regulatory FactorsRisk FactorsScleroderma, Systemicresearch article27111665open access10.1002/art.397302326-5205PMC5530728https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/art.39730https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5530728/pdf