ArticleEuropean journal of human genetics : EJHG2011
HTT haplotypes contribute to differences in Huntington disease prevalence between Europe and East Asia.
Article in European journal of human genetics : EJHG, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 62 papers, 2 of them syntheses that pooled it.
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Who cites it
62 citing papers in PubMed, 2 syntheses or guidelines pooled it, 165 citations in OpenAlex.
- Distribution of theClinical medicine & research · 2020Pooled it
- Incidence of adult Huntington's disease in the UK: a UK-based primary care study and a systematic review.BMJ open · 2016Pooled it
- Development of Antisense Gapmers for the Treatment of Huntington's Disease.Methods in molecular biology (Clifton, N.J.) · 2026Article
- Huntington disease: somatic expansion, pathobiology and therapeutics.Nature reviews. Neurology · 2026Review
- BA9 Transcriptomics in Huntington's Disease 80-Gene Signature and MIR219A2-Linked Targets.International journal of molecular sciences · 2025Article
- The Case of Spinocerebellar Ataxias in Amazonas (Northern Brazil): An Analysis of Disease Frequency from a Geographic, Historical, and Genetic-Evolutionary Perspective.Cerebellum (London, England) · 2025Article
- 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
- A clinical study and future prospects for bioactive compounds and semi-synthetic molecules in the therapies for Huntington's disease.Molecular neurobiology · 2024Review
- Epigenetic editing for autosomal dominant neurological disorders.Frontiers in genome editing · 2024Review
- Uncovering the Genetic and Molecular Features of Huntington's Disease in Northern Colombia.International journal of molecular sciences · 2023Article
- Loss of CAA interruption and intergenerational CAG instability in Chinese patients with Huntington's disease.Journal of molecular medicine (Berlin, Germany) · 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
- Beta-Boswellic Acid Reverses 3-Nitropropionic Acid-Induced Molecular, Mitochondrial, and Histopathological Defects in Experimental Rat Model of Huntington's Disease.Biomedicines · 2022Article
- A probableHGG advances · 2022Article
- Allele-specific silencing of the gain-of-function mutation in Huntington's disease using CRISPR/Cas9.JCI insight · 2022Article
- Natural history and burden of Huntington's disease in the UK: A population-based cohort study.European journal of neurology · 2022Article
- Geographic differences in the incidence of Huntington's disease in Sardinia, Italy.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2021Article
- The known burden of Huntington disease in the North of Scotland: prevalence of manifest and identified pre-symptomatic gene expansion carriers in the molecular era.Journal of neurology · 2021Article
- Glucose Metabolic Dysfunction in Neurodegenerative Diseases-New Mechanistic Insights and the Potential of Hypoxia as a Prospective Therapy Targeting Metabolic Reprogramming.International journal of molecular sciences · 2021Review
2 more citing papers are in PubMed but not listed here.
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Authors and funding
10 authors at 3 institutions in 2 countries.
Funding
Abstract
Huntington disease (HD) results from CAG expansion in the huntingtin (HTT) gene. Although HD occurs worldwide, there are large geographic differences in its prevalence. The prevalence in populations derived from Europe is 10-100 times greater than in East Asia. The European general population chromosomes can be grouped into three major haplogroups (group of similar haplotypes): A, B and C. The majority of HD chromosomes in Europe are found on haplogroup A. However, in the East-Asian populations of China and Japan, we find the majority of HD chromosomes are associated with haplogroup C. The highest risk HD haplotypes (A1 and A2), are absent from the general and HD populations of China and Japan, and therefore provide an explanation for why HD prevalence is low in East Asia. Interestingly, both East-Asian and European populations share a similar low level of HD on haplogroup C. Our data are consistent with the hypothesis that different HTT haplotypes have different mutation rates, and geographic differences in HTT haplotypes explain the difference in HD prevalence. Further, the bias for expansion on haplogroup C in the East-Asian population cannot be explained by a higher average CAG size, as haplogroup C has a lower average CAG size in the general East-Asian population compared with other haplogroups. This finding suggests that CAG-tract size is not the only factor important for CAG instability. Instead, the expansion bias may be because of genetic cis-elements within the haplotype that influence CAG instability in HTT, possibly through different mutational mechanisms for the different haplogroups.
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