Genome-wide meta-analysis of myasthenia gravis uncovers new loci and provides insights into polygenic prediction.

doi:10.1038/s41467-024-53595-6

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Genome-wide meta-analysis of myasthenia gravis uncovers new loci and provides insights into polygenic prediction.

Nature communications - 13 Nov 2024

Braun Alice, Shekhar Sudhanshu, Levey Daniel F, Straub Peter, Kraft Julia, Panagiotaropoulou Georgia M, Heilbron Karl, Awasthi Swapnil, Meleka Hanna Rafael, Hoffmann Sarah, Stein Maike, Lehnerer Sophie, Mergenthaler Philipp, Elnahas Abdelrahman G, Topaloudi Apostolia, Koromina Maria, Palviainen Teemu, Asbjornsdottir Bergrun, Stefansson Hreinn, Skuladóttir Astros Th, Jónsdóttir Ingileif, Stefansson Kari, Reis Kadri, Esko Tõnu, Palotie Aarno, Leypoldt Frank, Stein Murray B, Fontanillas Pierre, Kaprio Jaakko, Gelernter Joel, Davis Lea K, Paschou Peristera, Tannemaat Martijn R, Verschuuren Jan J G M, Kuhlenbäumer Gregor, Gregersen Peter K, Huijbers Maartje G, Stascheit Frauke, Meisel Andreas, Ripke Stephan

Abstract excerpt

Myasthenia gravis (MG) is a rare autoantibody-mediated disease affecting the neuromuscular junction. 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 (P < 5e-8) across 11 loci. Subgroup analyses revealed two of these...

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PMID: 39537604
DOI: 10.1038/s41467-024-53595-6
PMCID: PMC11560923

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