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We performed a genome-wide association study of 5708 MG cases and 432,028 controls of European ancestry and a replication study in 3989 cases and 226,643 controls provided by 23andMe Inc. We identified 12 independent genome-wide significant hits (<jats:italic>P<\/jats:italic>\u2009&lt;\u20095e<jats:sup>\u22128<\/jats:sup>) across 11 loci. Subgroup analyses revealed two of these were associated with early-onset (at age &lt;50) and four with late-onset MG (at age \u2265 50). Imputation of human leukocyte antigen alleles revealed inverse effect sizes for late- and early-onset, suggesting a potential modulatory influence on the time of disease manifestation. We assessed the performance of polygenic risk scores for MG, which significantly predicted disease status in an independent target cohort, explaining 4.21% of the phenotypic variation (<jats:italic>P<\/jats:italic>\u2009=\u20095.12e<jats:sup>\u22129<\/jats:sup>). With this work, we aim to enhance our understanding of the genetic architecture of MG.<\/jats:p>","DOI":"10.1038\/s41467-024-53595-6","type":"journal-article","created":{"date-parts":[[2024,11,13]],"date-time":"2024-11-13T23:21:18Z","timestamp":1731540078000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["Genome-wide meta-analysis of myasthenia gravis uncovers new loci and provides insights into polygenic 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He serves as medical advisory board chairman of the German Myasthenia Gravis Society. A.Th.S., B.\u00c1, H.S., I.J., and K.S. are employees of deCODE\/Amgen Inc. F.S. has received speaker\u2019s honoraria from argx and Alexion, as well as honoraria for attending advisory boards for Alexion and UCB Pharma. F.L. is supported by the German Ministry of Education and Research (01GM1908A und 01GM2208), E-Rare Joint Transnational research support (ERA-Net, LE3064\/2-1), Stiftung Pathobiochemie of the German Society for Laboratory Medicine and HORIZON MSCA 2022 Doctoral Network 101119457 \u2014 IgG4-TREAT and discloses speaker honoraria from Grifols, Teva, Biogen, Bayer, Roche, Novartis, Fresenius, travel funding from Merck, Grifols and Bayer and serving on advisory boards for Roche, Biogen and Alexion. K.H. was formerly employed by and holds stock or stock options in 23andMe, Inc. Murray.S. has in the past 3 years received consulting income from Acadia Pharmaceuticals, Aptinyx, atai Life Sciences, BigHealth, Biogen, Bionomics, BioXcel Therapeutics, Boehringer Ingelheim, Clexio, Delix Therapeutics, Eisai, EmpowerPharm, Engrail Therapeutics, Janssen, Jazz Pharmaceuticals, NeuroTrauma Sciences, PureTech Health, Sage Therapeutics, Sumitomo Pharma, and Roche\/Genentech. Dr. Stein has stock options in Oxeia Biopharmaceuticals and EpiVario. He has been paid for his editorial work on Depression and Anxiety (Editor-in-Chief), Biological Psychiatry (Deputy Editor), and UpToDate (Co-Editor-in-Chief for Psychiatry). He has also received research support from NIH, Department of Veterans Affairs, and the Department of Defense. He is on the scientific advisory board for the Brain and Behavior Research Foundation and the Anxiety and Depression Association of America. M.G.H. and J.J.G.M.V. are co-inventors on MuSK-related patents. LUMC, M.G.H., and J.J.G.M.V. receive royalties from these patents. LUMC receives royalties from a MuSK ELISA. M.G.H. is a consultant for argenx. Maike.S. has received speaker\u2019s honoraria and honoraria for attendance at advisory boards from argenx and Alexion. P.F. is employed by and holds stock or stock options in 23andMe, Inc. P.M. has been on the board of HealthNextGen. S.L. has received speaker\u2019s honoraria from Alexion, argenx, Hormosan and UCB and honoraria for attendance at advisory boards from Alexion, argenx, Biogen, HUMA, UCB and Roche. S.H. has received speaker\u2019s honoraria from Alexion, argenx, UCB and Roche and honoraria for attendance at advisory boards from Alexion, argenx and Roche. S.H. is a member of the medical advisory board of the German Myasthenia Society, DMG. M.R.T. reports trial support from argenx and Alexion, consultancies for argenx, HUMA and UCB Pharma and research funding from NMD Pharma, with all reimbursements received by Leiden University Medical Center. He is a member of the European Reference Network for Rare Neuromuscular Diseases (ERN EURO-NMD). The remaining authors declare no competing interests.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"9839"}}