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Войти в исследования 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.
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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
Аннотация
METHODS: 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.
RESULTS: This cross-disease meta-analysis of the GWAS data sets identified several loci with nominal association signals (P < 5 × 10(-6) ) that also showed evidence of association in the disease-specific GWAS scans. These loci included several genomic regions not previously reported as shared loci, as well as several risk factors that were previously found to be associated with both diseases. Follow-up analyses of the putatively new SSc-RA loci identified IRF4 as a shared risk factor for these 2 diseases (Pcombined = 3.29 × 10(-12) ). Analysis of the biologic relevance of the known SSc-RA shared loci identified the type I interferon and interleukin-12 signaling pathways as the main common etiologic factors.
CONCLUSION: 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.