ArticleAnnals of neurology2012
Risk for myasthenia gravis maps to a (151) Pro→Ala change in TNIP1 and to human leukocyte antigen-B*08.
Article in Annals of neurology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 79 papers, 3 of them syntheses that pooled it.
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Who cites it
79 citing papers in PubMed, 3 syntheses or guidelines pooled it, 165 citations in OpenAlex.
- Genome-wide meta-analysis of myasthenia gravis uncovers new loci and provides insights into polygenic prediction.Nature communications · 2024Pooled it
- Common variants at PVT1, ATG13-AMBRA1, AHI1 and CLEC16A are associated with selective IgA deficiency.Nature genetics · 2016Pooled it
- PTPN22 R620W Polymorphism is Associated with Myasthenia Gravis Risk: A Systematic Review and Meta-Analysis.Medical science monitor : international medical journal of experimental and clinical research · 2015Pooled it
- Elucidating genetic backgrounds of myasthenia gravis in Japanese by genome-wide association studies and multi-omics analyses of thymoma.Nature communications · 2026Article
- Associated Autoimmunity in Myasthenia Gravis in Denmark: A Nationwide Case-Control Study.European journal of neurology · 2026Article
- Article
- HLA polymorphism in neuroimmune diseases: linking antigen presentation to neuroinflammatory programs.Frontiers in immunology · 2026Review
- HLA-A*01:01-B*08:01-C*07:01 is linked to early-onset immune checkpoint inhibitor-induced myositis and myocarditis.Journal for immunotherapy of cancer · 2025Article
- Causal Variants in CHRNA1 and CHRNB1 Genes for Anti-acetylcholine Receptor Antibody Positive Myasthenia Gravis: Evidence from Bayesian Fine-Mapping and Genetic Association Study.Molecular neurobiology · 2025Article
- Single-Cell Transcriptomics Identifies a Prominent Role for the MIF-CD74 Axis in Myasthenia Gravis Thymus.Neurology(R) neuroimmunology & neuroinflammation · 2025Article
- Identification and validation of lncRNA mutation hotspot SNPs associated with myasthenia gravis susceptibility.Non-coding RNA research · 2025Article
- Thymus research in relation to myasthenia gravis: a new perspective on cell subpopulations and future directions.Frontiers in immunology · 2025Review
- Short-term and long-term prognoses in AChR-Ab positive very-late-onset myasthenia gravis patients.Therapeutic advances in neurological disorders · 2025Article
- HLA Class I and II Alleles in Anti-Acetylcholine Receptor Antibodies Positive and Double-Seronegative Myasthenia Gravis Patients of Romanian Descent.Neurology international · 2024Article
- Association between Cytotoxic T-Lymphocyte-Associated Antigen 4 (CTLA-4) Locus and Early-Onset Anti-acetylcholine Receptor-Positive Myasthenia Gravis in Serbian Patients.Molecular neurobiology · 2024Article
- Causal relationship between the immune phenotype of monocytes and myasthenia gravis: A Mendelian randomization study.Heliyon · 2024Article
- Myasthenia gravis: the changing treatment landscape in the era of molecular therapies.Nature reviews. Neurology · 2024Review
- Study on the clinical and electrophysiological characteristics of nerve function in myasthenia gravis patients in Vietnam.SAGE open medicine · 2024Article
- New Insights on DR and DQ Human Leukocyte Antigens in Anti-LGI1 Encephalitis.Neurology(R) neuroimmunology & neuroinflammation · 2023Article
- Familial autoimmunity in patients with idiopathic inflammatory myopathies.Journal of internal medicine · 2023Article
19 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
29 authors at 17 institutions in 8 countries.
Funding
Abstract
objectiveThe objective of this study is to comprehensively define the genetic basis of early onset myasthenia gravis (EOMG).
methodsWe have carried out a 2-stage genome-wide association study on a total of 649 North European EOMG patients. Cases were matched 1:4 with controls of European ancestry. We performed imputation and conditional analyses across the major histocompatibility complex, as well as in the top regions of association outside the human leukocyte antigen (HLA) region.
resultsWe observed the strongest association in the HLA class I region at rs7750641 (p = 1.2 × 10(-92) ; odds ratio [OR], 6.25). By imputation and conditional analyses, HLA-B*08 proves to be the major associated allele (p = 2.87 × 10(-113) ; OR, 6.41). In addition to the expected association with PTPN22 (rs2476601; OR, 1.71; p = 8.2 × 10(-10) ), an imputed coding variant (rs2233290) at position 151 (Pro→Ala) in the TNFAIP3-interacting protein 1, TNIP1, confers even stronger risk than PTPN22 (OR, 1.91; p = 3.2 × 10(-10) ).
interpretationThe association at TNIP1 in EOMG implies disease mechanisms involving ubiquitin-dependent dysregulation of NF-κB signaling. The localization of the major HLA signal to the HLA-B*08 allele suggests that CD8(+) T cells may play a key role in disease initiation or pathogenesis.
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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.