ArticleMolecular neurobiology2025
Causal Variants in CHRNA1 and CHRNB1 Genes for Anti-acetylcholine Receptor Antibody Positive Myasthenia Gravis: Evidence from Bayesian Fine-Mapping and Genetic Association Study.
Article in Molecular neurobiology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed.
- Postsynaptic Congenital Myasthenic Syndrome Mimicking Limb-Girdle Muscular Dystrophy Associated with an Alternatively Spliced Exon in CHRNB1: A Case Report and Literature Review.Children (Basel, Switzerland) · 2026Article
- PGVDA: a pathway-aggregated genetic dosage framework for interpretable disease classification using machine learning.Briefings in bioinformatics · 2026Article
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12 authors.
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Abstract
Autoantibodies target the acetylcholine receptor (AChR) in 85% of myasthenia gravis (MG) patients. Genomic studies highlighted the association of genes encoding AChR subunits (CHRNA1 and CHRNB1) and MG in European populations. Additionally, Mendelian randomization revealed rs4151121 at the CHRNB1 locus as a potential causal variant. Here, we performed Bayesian fine-mapping of the CHRNA1 locus using GWAS summary statistics, a linkage disequilibrium matrix and functional annotations. The GWAS lead hit rs35274388 was identified as a causal variant overlapping with the promoter region (p < 0.01). Next, we performed a candidate gene study including 1038 participants from Serbia. Rs4151121 minor allele G was associated with late-onset MG (LOMG) (OR = 1.327, 95% CI = 1.084-1.625, p = 0.006, p
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