ArticleEuropean journal of human genetics : EJHG2013
Huntington disease in the South African population occurs on diverse and ethnically distinct genetic haplotypes.
Article in European journal of human genetics : EJHG, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers, 2 of them syntheses that pooled it.
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Who cites it
32 citing papers in PubMed, 2 syntheses or guidelines pooled it, 64 citations in OpenAlex.
- Prevalence and Incidence of Huntington's Disease: An Updated Systematic Review and Meta-Analysis.Movement disorders : official journal of the Movement Disorder Society · 2022Pooled it
- Distribution of theClinical medicine & research · 2020Pooled it
- Development of Antisense Gapmers for the Treatment of Huntington's Disease.Methods in molecular biology (Clifton, N.J.) · 2026Article
- An exploration of the genetics of the mutant Huntingtin (mHtt) gene in a cohort of patients with chorea from different ethnic groups in sub-Saharan Africa.Annals of human genetics · 2025Article
- Atypical Presentations of Huntington Disease-like 2 in South African Individuals.Movement disorders clinical practice · 2024Article
- Risk Factors and Interventions for Suicide in Huntington's Disease-A Systematic Review.Journal of clinical medicine · 2024Review
- A clinical study and future prospects for bioactive compounds and semi-synthetic molecules in the therapies for Huntington's disease.Molecular neurobiology · 2024Review
- Huntington disease-like 2: insight into neurodegeneration from an African disease.Nature reviews. Neurology · 2024Review
- A deep population reference panel of tandem repeat variation.Nature communications · 2023Article
- A deep population reference panel of tandem repeat variation.bioRxiv : the preprint server for biology · 2023Article
- Spanish HTT gene study reveals haplotype and allelic diversity with possible implications for germline expansion dynamics in Huntington disease.Human molecular genetics · 2023Article
- What the Gut Tells the Brain-Is There a Link between Microbiota and Huntington's Disease?International journal of molecular sciences · 2023Review
- The Comprehensive Analysis of Motor and Neuropsychiatric Symptoms in Patients with Huntington's Disease from China: A Cross-Sectional Study.Journal of clinical medicine · 2022Article
- A probableHGG advances · 2022Article
- 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
- Converging evidence in support of omega-3 polyunsaturated fatty acids as a potential therapy for Huntington's disease symptoms.Reviews in the neurosciences · 2021Review
- Incidence of Huntington disease in a northeastern Spanish region: a 13-year retrospective study at tertiary care centre.BMC medical genetics · 2020Article
- Tracing the mutated HTT and haplotype of the African ancestor who spread Huntington disease into the Middle East.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
- Potent and sustained huntingtin lowering via AAV5 encoding miRNA preserves striatal volume and cognitive function in a humanized mouse model of Huntington disease.Nucleic acids research · 2020Article
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Authors and funding
9 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Huntington disease (HD) is a neurodegenerative disorder resulting from the expansion of a CAG trinucleotide repeat in the huntingtin (HTT) gene. Worldwide prevalence varies geographically with the highest figures reported in populations of European ancestry. HD in South Africa has been reported in Caucasian, black and mixed subpopulations, with similar estimated prevalence in the Caucasian and mixed groups and a lower estimate in the black subpopulation. Recent studies have associated specific HTT haplotypes with HD in distinct populations. Expanded HD alleles in Europe occur predominantly on haplogroup A (specifically high-risk variants A1/A2), whereas in East Asian populations, HD alleles are associated with haplogroup C. Whether specific HTT haplotypes associate with HD in black Africans and how these compare with haplotypes found in European and East Asian populations remains unknown. The current study genotyped the HTT region in unaffected individuals and HD patients from each of the South African subpopulations, and haplotypes were constructed. CAG repeat sizes were determined and phased to haplotype. Results indicate that HD alleles from Caucasian and mixed patients are predominantly associated with haplogroup A, signifying a similar European origin for HD. However, in black patients, HD occurs predominantly on haplogroup B, suggesting several distinct origins of the mutation in South Africa. The absence of high-risk variants (A1/A2) in the black subpopulation may also explain the reported low prevalence of HD. Identification of haplotypes associated with HD-expanded alleles is particularly relevant to the development of population-specific therapeutic targets for selective suppression of the expanded HTT transcript.
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