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00925njm 22002777a 4500 dc Lyons, Paul A. author Peters, James E. author Alberici, Federico author Liley, James author Coulson, Richard M. R. author Astle, William author Baldini, Chiara author Bonatti, Francesco author Cid, María Cinta author Elding, Heather author Emmi, Giacomo author Epplen, Jörg author Guillevin, Loïc author Jayne, David R. W. author Jiang, Tao author Gunnarsson, Iva author Lamprecht, Peter author Leslie, Stephen author Little, Mark A. author Martorana, Davide author Moosig, Frank author Neumann, Thomas author Ohlsson, Sophie author Quickert, Stefan author Ramirez, Giuseppe A. author Rewerska, Barbara author Schett, George author Sinico, Renato A. author Szczeklik, Wojciech author Tesar, Vladimir author Vukcevic, Damjan author Akil, Mohammed author Barratt, Jonathan author Basu, Neil author Butterworth, Adam author Bruce, Ian author Clarkson, Michael author Conlon, Niall author DasGupta, Bhaskar author Doulton, Timothy W. R. author Espígol-Frigolé, Georgina author Flossmann, Oliver author Gabrielli, Armando author Gasior, Jolanta author Gregorini, Gina author Guida, Giuseppe author Hernández Rodríguez, José author Hruskova, Zdenka author Hudson, Amy author Knight, Ann author Lanyon, Peter author Luqmani, Raashid author Magliano, Malgorzata author Manfredi, Angelo A. author Marguerie, Christopher author Maritati, Federica author Marvisi, Chiara author McHugh, Neil J. author Molloy, Eaminn author Motyer, Allan author Mukhtyar, Chetan author Padyukov, Leonid author Pesci, Alberto author Prieto-Gonzalez, Sergio author Ramentol-Sintas, Marc author Reis, Petra author Roccatello, Dario author Rovere-Querini, Patrizia author Salvarani, Carlo author Santarsia, Francesca author Solans, Roser author Soranzo, Nicole author Taylor, Jo author Wessels, Julie author Zwerina, Jochen author Terrier, Benjamin author Watts, Richard A. author Vaglio, Augusto author Holle, Julia U. author Wallace, Chris author Smith, Kenneth G. C. author Universitat Autònoma de Barcelona author 2019 Eosinophilic granulomatosis with polyangiitis (EGPA) is a rare inflammatory disease of unknown cause. 30% of patients have anti-neutrophil cytoplasmic antibodies (ANCA) specific for myeloperoxidase (MPO). Here, we describe a genome-wide association study in 676 EGPA cases and 6809 controls, that identifies 4 EGPA-associated loci through conventional case-control analysis, and 4 additional associations through a conditional false discovery rate approach. Many variants are also associated with asthma and six are associated with eosinophil count in the general population. Through Mendelian randomisation, we show that a primary tendency to eosinophilia contributes to EGPA susceptibility. Stratification by ANCA reveals that EGPA comprises two genetically and clinically distinct syndromes. MPO+ ANCA EGPA is an eosinophilic autoimmune disease sharing certain clinical features and an HLA-DQ association with MPO+ ANCA-associated vasculitis, while ANCA-negative EGPA may instead have a mucosal/barrier dysfunction origin. Four candidate genes are targets of therapies in development, supporting their exploration in EGPA. Antibodies, Antineutrophil Cytoplasmic Eosinophils Genetic Association Studies Genetic Loci Genetic Predisposition to Disease Genome-Wide Association Study Granulomatosis with Polyangiitis Humans Mendelian Randomization Analysis Genome-wide association study of eosinophilic granulomatosis with polyangiitis reveals genomic loci stratified by ANCA status