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Article

CAG expansion in the Huntington disease gene is associated with a specific and targetable predisposing haplogroup.

American journal of human genetics - 1 Mar 2009

Warby Simon C, Montpetit Alexandre, Hayden Anna R, Carroll Jeffrey B, Butland Stefanie L, Visscher Henk, Collins Jennifer A, Semaka Alicia, Hudson Thomas J, Hayden Michael R

Abstract excerpt

Huntington disease (HD) is an autosomal-dominant disorder that results from >or=36 CAG repeats in the HD gene (HTT). Approximately 10% of patients inherit a chromosome that underwent CAG expansion from an unaffected parent with <36 CAG repeats. This study is a comprehensive analysis of genetic diversity in HTT and reveals that HD patients of European origin (n = 65) have a significant enrichment (95%) of a...

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Identifiers

PMID: 19249009
DOI: 10.1016/j.ajhg.2009.02.003
PMCID: PMC2668007

Genes

HTT

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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