RGD Reference Report - Evidence for the GluR6 gene associated with younger onset age of Huntington's disease. - Rat Genome Database

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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.
RGD ID: 1358638
Pubmed: PMID:10522893   (View Abstract at PubMed)

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.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Huntington's disease onsetIAGP 1358638DNA:repeat: (human)RGD 
Huntington's disease onsetISOGRIK2 (Homo sapiens)1358638; 1358638DNA:repeat: (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Young adult onset  IAGP 1358638 RGD 
Objects Annotated

Genes (Rattus norvegicus)
Grik2  (glutamate ionotropic receptor kainate type subunit 2)

Genes (Mus musculus)
Grik2  (glutamate receptor, ionotropic, kainate 2 (beta 2))

Genes (Homo sapiens)
GRIK2  (glutamate ionotropic receptor kainate type subunit 2)


Additional Information