ArticleJournal of neuromuscular diseases2019
Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association Study.
Article in Journal of neuromuscular diseases, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
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Who cites it
16 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Unraveling the Genetic Landscape of Foot Arch Morphology: A Systematic Review of Single Nucleotide Polymorphisms.Clinical genetics · 2025Pooled it
- Peripheral Myelin Protein-22 and Its Prominence in Charcot-Marie-Tooth Disease.Chemical reviews · 2026Review
- Search for Additional Pathogenic Variants to Explain Variation inNeurology. Genetics · 2025Article
- The continued promise of genomic technologies and software in neurogenetics.Journal of neuromuscular diseases · 2025Review
- Unleashing the Power of Multiomics: Unraveling the Molecular Landscape of Peripheral Neuropathy.Annals of clinical and translational neurology · 2025Review
- A study concept of expeditious clinical enrollment for genetic modifier studies in Charcot-Marie-Tooth neuropathy 1A.Journal of the peripheral nervous system : JPNS · 2024Article
- Testing SIPA1L2 as a modifier of CMT1A using mouse models.Journal of neuropathology and experimental neurology · 2024Article
- Neuropathy due to bi-allelic SH3TC2 variants: genotype-phenotype correlation and natural history.Brain : a journal of neurology · 2023Article
- The pseudogenes of eukaryotic translation elongation factors (EEFs): Role in cancer and other human diseases.Genes & diseases · 2022Review
- Mechanisms and Treatments in Demyelinating CMT.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2021Review
- Emerging Therapies for Charcot-Marie-Tooth Inherited Neuropathies.International journal of molecular sciences · 2021Review
- Phenotypic Heterogeneity of Post-lingual and/or Milder Hearing Loss for the Patients With the GJB2 c.235delC Homozygous Mutation.Frontiers in cell and developmental biology · 2021Article
- Genetic modifiers and phenotypic variability in neuromuscular disorders.Journal of applied genetics · 2020Review
- Paternal gender specificity and mild phenotypes in Charcot-Marie-Tooth type 1A patients with de novo 17p12 rearrangements.Molecular genetics & genomic medicine · 2020Article
- Exploiting Sphingo- and Glycerophospholipid Impairment to Select Effective Drugs and Biomarkers for CMT1A.Frontiers in neurology · 2020Article
- Clinical and Genetic Diversity ofFrontiers in neurology · 2020Article
Corrections and comments
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Authors and funding
29 authors.
Funding
Abstract
backgroundCharcot-Marie-Tooth disease type 1A (CMT1A) is caused by a uniform 1.5-Mb duplication on chromosome 17p, which includes the PMP22 gene. Patients often present the classic neuropathy phenotype, but also with high clinical variability.
objectiveWe aimed to identify genetic variants that are potentially associated with specific clinical outcomes in CMT1A.
methodsWe genotyped over 600,000 genomic markers using DNA samples from 971 CMT1A patients and performed a case-only genome-wide association study (GWAS) to identify potential genetic association in a subset of 644 individuals of European ancestry. A total of 14 clinical outcomes were analyzed in this study.
resultsThe analyses yielded suggestive association signals in four clinical outcomes: difficulty with eating utensils (lead SNP rs4713376, chr6 : 30773314, P = 9.91×10-7, odds ratio = 3.288), hearing loss (lead SNP rs7720606, chr5 : 126551732, P = 2.08×10-7, odds ratio = 3.439), decreased ability to feel (lead SNP rs17629990, chr4 : 171224046, P = 1.63×10-7, odds ratio = 0.336), and CMT neuropathy score (lead SNP rs12137595, chr1 : 4094068, P = 1.14×10-7, beta = 3.014).
conclusionsWhile the results require validation in future genetic and functional studies, the detected association signals may point to novel genetic modifiers in CMT1A.
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