ArticleProceedings of the National Academy of Sciences of the United States of America2004
Pleiotropic effects of the 8.1 HLA haplotype in patients with autoimmune myasthenia gravis and thymus hyperplasia.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers, 1 of them a synthesis that pooled it.
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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.
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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.
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Who cites it
33 citing papers in PubMed, 1 synthesis or guideline pooled it, 95 citations in OpenAlex.
- Genome-wide meta-analysis of myasthenia gravis uncovers new loci and provides insights into polygenic prediction.Nature communications · 2024Pooled it
- Late onset myasthenia gravis is associated with HLA DRB1*15:01 in the Norwegian population.PloS one · 2012Trial
- Elucidating genetic backgrounds of myasthenia gravis in Japanese by genome-wide association studies and multi-omics analyses of thymoma.Nature communications · 2026Article
- Pathophysiology of Childhood-Onset Myasthenia: Abnormalities of Neuromuscular Junction and Autoimmunity and Its Background.Pathophysiology : the official journal of the International Society for Pathophysiology · 2023Review
- Sodium butyrate alleviates R97-116 peptide-induced myasthenia gravis in mice by improving the gut microbiota and modulating immune response.Journal of inflammation (London, England) · 2023Article
- Commentary: Conserved polymorphic sequences protect themselves for future challenges.Frontiers in genetics · 2022Article
- Myasthenia Gravis: Epidemiology, Pathophysiology and Clinical Manifestations.Journal of clinical medicine · 2021Review
- Next-Generation Sequencing Identifies Extended HLA Class I and II Haplotypes Associated With Early-Onset and Late-Onset Myasthenia Gravis in Italian, Norwegian, and Swedish Populations.Frontiers in immunology · 2021Article
- Collagenous Colitis Is Associated With HLA Signature and Shares Genetic Risks With Other Immune-Mediated Diseases.Gastroenterology · 2020Article
- Identifying the culprits in neurological autoimmune diseases.Journal of translational autoimmunity · 2019Review
- The immunogenetics of neurological disease.Immunology · 2018Review
- Human Leucocyte Antigen B50 Is Associated with Conversion to Generalized Myasthenia Gravis in Patients with Pure Ocular Onset.Medical principles and practice : international journal of the Kuwait University, Health Science Centre · 2017Article
- Immunopathogenesis in Myasthenia Gravis and Neuromyelitis Optica.Frontiers in immunology · 2017Review
- Prevalence and impact of autoimmune thyroid disease on myasthenia gravis course.Brain and behavior · 2016Article
- Bag6 complex contains a minimal tail-anchor-targeting module and a mock BAG domain.Proceedings of the National Academy of Sciences of the United States of America · 2015Article
- Improved drug therapy: triangulating phenomics with genomics and metabolomics.Human genomics · 2014Review
- BAG-6, a jack of all trades in health and disease.Cellular and molecular life sciences : CMLS · 2014Review
- VAV1 and BAFF, via NFκB pathway, are genetic risk factors for myasthenia gravis.Annals of clinical and translational neurology · 2014Article
- Recent advances in genetic predisposition of myasthenia gravis.BioMed research international · 2013Review
- Risk for myasthenia gravis maps to a (151) Pro→Ala change in TNIP1 and to human leukocyte antigen-B*08.Annals of neurology · 2012Article
Corrections and comments
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The 8.1 haplotype of the HLA complex has been reproducibly associated with several autoimmune diseases and traits, notably with thymus hyperplasia in patients with acquired generalized myasthenia gravis, an autoantibody-mediated disease directed at the muscle acetylcholine receptor. However, the strong linkage disequilibrium across this haplotype has prevented the identification of the causative locus, termed MYAS1. Here, we localized MYAS1 to a 1.2-Mb genome segment by reconstructing haplotypes and assessing their transmission in 73 simplex families. This segment encompasses the class III and proximal class I regions, between the BAT3 and C3-2-11 markers, therefore unambiguously excluding the class II loci. In addition, a case-control study revealed a very strong association with a core haplotype in this same region following an additive model (P=7 x 10(-11), odds ratio 6.5 for one copy and 42 for two copies of the core haplotype). Finally, we showed that this region is associated with a marked increase in serum titers of anti-acetylcholine receptor autoantibodies (P=8 x 10(-6)). Remarkably, this effect was suppressed by a second locus in cis on the 8.1 haplotype and located toward the class II region. Altogether, these data demonstrate the highly significant but complex effects of the 8.1 haplotype on the phenotype of myasthenia gravis patients and might shed light on its role in other autoimmune diseases.
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