ArticleGenes and immunity2004
Association of the gene encoding the delta-subunit of the muscle acetylcholine receptor (CHRND) with acquired autoimmune myasthenia gravis.
Article in Genes and immunity, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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.
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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
7 citing papers in PubMed, 25 citations in OpenAlex.
- Phenotypic variability in congenital myasthenic syndrome with GFPT1 mutation.Acta neurologica Belgica · 2025Article
- Innovative Therapeutic Approaches in Congenital Myasthenic Syndromes.Neurology. Clinical practice · 2024Article
- A novel missense compound heterozygous variant in TLR1 gene is associated with susceptibility to rheumatoid arthritis - structural perspective and functional annotations.Clinical rheumatology · 2023Article
- Identifying the culprits in neurological autoimmune diseases.Journal of translational autoimmunity · 2019Review
- Immunopathogenesis in Myasthenia Gravis and Neuromyelitis Optica.Frontiers in immunology · 2017Review
- A candidate gene for autoimmune myasthenia gravis.Neurology · 2012Article
- CCR2-64I and CCR5Delta32 Polymorphisms in Korean Patients with Myasthenia Gravis.Journal of clinical neurology (Seoul, Korea) · 2007Article
Corrections and comments
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Authors and funding
5 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The muscle acetylcholine receptor (AChR) is the main target self-antigen in acquired autoimmune myasthenia gravis (MG). Here, we investigated an association of MG with the CHRND gene encoding the delta-subunit of the AChR. Using a microsatellite repeat located in the second intron of the gene, we observed a preferential transmission of the allele 268 in 114 one-generation families with one myasthenic child (Pc=0.0154). This allele was also over-represented in a group of 350 unrelated nonthymoma MG patients (OR=1.78, P=0.038), but not in 84 thymoma patients, compared to 168 healthy controls. Moreover, among nonthymoma patients, those lacking serum anti-titin antibodies appeared to be best associated (OR=2.07, P=0.017). In contrast, there was no distortion in the transmission of a single-nucleotide substitution polymorphisms (SNPs) in the 3' untranslated region of CHRND nor in that of two SNPs located in the closely linked CHRNG gene, 4.5 kb telomeric to CHRND. The data warrant a detailed investigation of CHRND polymorphism in MG patients.
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