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Evidence for the GluR6 gene associated with younger onset age of Huntington's disease.

Authors: MacDonald, ME  Vonsattel, JP  Shrinidhi, J  Couropmitree, NN  Cupples, LA  Bird, ED  Gusella, JF  Myers, RH 
Citation: MacDonald ME, etal., Neurology 1999 Oct 12;53(6):1330-2.
Pubmed: (View Article at PubMed) PMID:10522893

Huntington's disease (HD) is attributed to a triplet CAG repeat mutation, and about half of the variation in onset age can be explained by the size of the repeat expansion. Recently, a TAA repeat polymorphism in close linkage to the kainate receptor, GluR6, was reported related to onset age in HD. We examined this polymorphism in 258 unrelated HD-affected persons (172 from a clinic sample and 86 from a postmortem series). This study confirms that the 155 allele is associated with younger onset age of HD and suggests that it is in linkage disequilibrium with a variant of the GluR6 gene or another gene in this region.

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RGD Object Information
RGD ID: 1358638
Created: 2005-06-21
Species: All species
Last Modified: 2005-06-21
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.