ArticleProceedings of the National Academy of Sciences of the United States of America2022
Identification of genetic risk loci and prioritization of genes and pathways for myasthenia gravis: a genome-wide association study.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 84 papers, 5 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
84 citing papers in PubMed, 5 syntheses or guidelines pooled it, 126 citations in OpenAlex.
- Familial myasthenia gravis: characterization of an Israeli cohort and systematic review of the literature.Journal of neurology · 2025Pooled it
- Genetic architecture of primary biliary cholangitis: strong evidence for HLA and non-HLA risk loci.Frontiers in immunology · 2025Pooled it
- Exploring the Potential Link Between Autoimmune Diseases and Pan-Cancer: A Multidatabase Mendelian Randomization Analysis.Journal of immunology research · 2025Pooled it
- Genome-wide meta-analysis of myasthenia gravis uncovers new loci and provides insights into polygenic prediction.Nature communications · 2024Pooled it
- Assessing the lack of diversity in genetics research across neurodegenerative diseases: A systematic review of the GWAS Catalog and literature.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2024Pooled it
- Immune markers mediate genetic relationships between immune diseases and psychiatric disorders.PLoS genetics · 2026Article
- Associations of Weight and Glucose Levels With Myasthenia Gravis: A Two-Step, Two-Sample Mendelian Randomization and Retrospective Case-Control Study.Brain and behavior · 2026Article
- High risk of hypoxemic COVID-19 pneumonia in myasthenia gravis patients with type I IFN autoantibodies.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- Bidirectional association between immune-mediated diseases and major depressive disorder: evidence from cohort, genome-wide pleiotropic, and experimental studies.Molecular psychiatry · 2026Article
- Genome-Wide and Locus-Level Analyses Reveal Modest, Heterogeneous Genetic Sharing Between Alzheimer's Disease and Myasthenia Gravis.International journal of molecular sciences · 2026Article
- High risk of hypoxemic COVID-19 pneumonia in myasthenia gravis patients with type I IFN autoantibodies.medRxiv : the preprint server for health sciences · 2026Article
- The role and mechanism of IL‑35 in myasthenia gravis (Review).International journal of molecular medicine · 2026Review
- Elucidating genetic backgrounds of myasthenia gravis in Japanese by genome-wide association studies and multi-omics analyses of thymoma.Nature communications · 2026Article
- Genetic insights into biological aging and myasthenia gravis: a Mendelian randomization study of telomere length, epigenetic clocks, and mitochondrial DNA copy number.Clinical epigenetics · 2026Article
- Article
- Mendelian Randomization Analysis of the Brain, Cerebrospinal Fluid, and Plasma Proteome Identifies a Potential Peripheral Biomarker for Isolated REM Sleep Behavior Disorder.Journal of molecular neuroscience : MN · 2026Article
- CFDFrontiers in immunology · 2026Article
- Article
- A Distinct Immunological Signature in Late-Onset Myasthenia Gravis: Insights from an Exploratory Proteomics Study.Annals of neurology · 2026Article
- Exploring the Role of B-Cell Biotherapy in Myasthenia Gravis from a Genetic Perspective: A Mendelian Randomization Study.Molecular neurobiology · 2025Article
24 more citing papers are in PubMed but not listed here.
Corrections and comments
- Commented on by
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- Erratum issued
Authors and funding
17 authors at 7 institutions in 4 countries.
Funding
Abstract
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 discovered loci was attempted in an independent cohort from the UK Biobank. We also performed a transcriptome-wide association study (TWAS) using expression data from skeletal muscle, whole blood, and tibial nerve to test the effects of disease-associated polymorphisms on gene expression. We discovered two signals in the genes encoding acetylcholine receptor subunits that are the most common antigenic target of the autoantibodies: a GWAS signal within the cholinergic receptor nicotinic alpha 1 subunit (
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.