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  • Title: 4p16.3 haplotype modifying age at onset of Huntington disease.
    Author: Nørremølle A, Budtz-Jørgensen E, Fenger K, Nielsen JE, Sørensen SA, Hasholt L.
    Journal: Clin Genet; 2009 Mar; 75(3):244-50. PubMed ID: 19250382.
    Abstract:
    Huntington disease (HD) is caused by an expanded CAG repeat sequence in the HD gene. Although the age at onset is correlated to the CAG repeat length, this correlation only explains approximately half of the variation in onset age. Less variation between siblings indicates that the variation is, in part, explained by genetic modifiers. We analyzed polymorphic loci within or close to the HD gene on the HD chromosome in Danish HD patients. We found one specific haplotype segregating with later age at onset, compared with patients with similar CAG repeat length and another haplotype. The nine Danish families in the study carrying this haplotype most likely have a common founder. Several of the polymorphic loci displayed alleles that may be specific to the late-onset haplotype, implicating that from this study we cannot determine which of the loci tested (or other polymorphic loci in this chromosomal area) do in fact contain genetic modifiers of age at onset.
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