Article
Identification of genetic risk loci and prioritization of genes and pathways for myasthenia gravis: a genome-wide association study.
Proceedings of the National Academy of Sciences of the United States of America - 1 Feb 2022
Chia Ruth, Saez-Atienzar Sara, Murphy Natalie, Chiò Adriano, Blauwendraat Cornelis, Roda Ricardo H, Tienari Pentti J, Kaminski Henry J, Ricciardi Roberta, Guida Melania, De Rosa Anna, Petrucci Loredana, Evoli Amelia, Provenzano Carlo, Drachman Daniel B, Traynor Bryan J
Abstract excerpt
Myasthenia gravis is a chronic autoimmune disease characterized by autoantibody-mediated interference of signal transmission across the neuromuscular junction. We performed a genome-wide association study (GWAS) involving 1,873 patients diagnosed with acetylcholine receptor antibody-positive myasthenia gravis and 36,370 healthy individuals to identify disease-associated genetic risk loci. Replication of the...
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