ArticleEuropean journal of human genetics : EJHG2017
Haplotype-based stratification of Huntington's disease.
Article in European journal of human genetics : EJHG, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 1 of them a synthesis that pooled it.
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The trial behind it
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
17 citing papers in PubMed, 1 synthesis or guideline pooled it, 30 citations in OpenAlex.
- Distribution of theClinical medicine & research · 2020Pooled it
- CRISPR-based gene therapy for huntington's disease: current advances and future prospects.Neurogenetics · 2025Review
- Clinical and Genetic Characteristics Associated With Survival Outcome in Late-Onset Huntington's Disease in South Korea.Journal of clinical neurology (Seoul, Korea) · 2024Article
- Haplotyping SNPs for allele-specific gene editing of the expanded huntingtin allele using long-read sequencing.HGG advances · 2023Article
- Allele-specific silencing of the gain-of-function mutation in Huntington's disease using CRISPR/Cas9.JCI insight · 2022Article
- PAM-altering SNP-based allele-specific CRISPR-Cas9 therapeutic strategies for Huntington's disease.Molecular therapy. Methods & clinical development · 2022Article
- Haplotype-specific insertion-deletion variations for allele-specific targeting in Huntington's disease.Molecular therapy. Methods & clinical development · 2022Article
- Targeted gene silencing in the nervous system with CRISPR-Cas13.Science advances · 2022Article
- Allele-Specific Knockdown of Mutant Huntingtin Protein via Editing at Coding Region Single Nucleotide Polymorphism Heterozygosities.Human gene therapy · 2022Article
- Gene targeting techniques for Huntington's disease.Ageing research reviews · 2021Review
- Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.Neuron · 2021Article
- Huntington's Disease Pathogenesis: Two Sequential Components.Journal of Huntington's disease · 2021Review
- Investigational Assay for Haplotype Phasing of the Huntingtin Gene.Molecular therapy. Methods & clinical development · 2020Article
- A Comprehensive Haplotype-Targeting Strategy for Allele-Specific HTT Suppression in Huntington Disease.American journal of human genetics · 2019Article
- Full sequence of mutant huntingtin 3'-untranslated region and modulation of its gene regulatory activity by endogenous microRNA.Journal of human genetics · 2019Article
- Population-specific genetic modification of Huntington's disease in Venezuela.PLoS genetics · 2018Article
- The prospects of CRISPR-based genome engineering in the treatment of neurodegenerative disorders.Therapeutic advances in neurological disorders · 2018Review
Corrections and comments
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Authors and funding
15 authors at 8 institutions in 3 countries.
Funding
Abstract
Huntington's disease (HD) is an autosomal dominant neurodegenerative disease caused by expansion of a CAG trinucleotide repeat in HTT, resulting in an extended polyglutamine tract in huntingtin. We and others have previously determined that the HD-causing expansion occurs on multiple different haplotype backbones, reflecting more than one ancestral origin of the same type of mutation. In view of the therapeutic potential of mutant allele-specific gene silencing, we have compared and integrated two major systems of HTT haplotype definition, combining data from 74 sequence variants to identify the most frequent disease-associated and control chromosome backbones and revealing that there is potential for additional resolution of HD haplotypes. We have used the large collection of 4078 heterozygous HD subjects analyzed in our recent genome-wide association study of HD age at onset to estimate the frequency of these haplotypes in European subjects, finding that common genetic variation at HTT can distinguish the normal and CAG-expanded chromosomes for more than 95% of European HD individuals. As a resource for the HD research community, we have also determined the haplotypes present in a series of publicly available HD subject-derived fibroblasts, induced pluripotent cells, and embryonic stem cells in order to facilitate efforts to develop inclusive methods of allele-specific HTT silencing applicable to most HD patients. Our data providing genetic guidance for therapeutic gene-based targeting will significantly contribute to the developments of rational treatments and implementation of precision medicine in HD.
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Registered trials
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