Evidence for the GluR6 gene associated with younger onset age of Huntington's disease.
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.
MacDonald
M E
ME
Molecular Neurogenetics Unit, Massachusetts General Hospital, Harvard Medical School, Boston, USA.
Vonsattel
J P
JP
Shrinidhi
J
J
Couropmitree
N N
NN
Cupples
L A
LA
Bird
E D
ED
Gusella
J F
JF
Myers
R H
RH
D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D005260:Female; D005838:Genotype; D006801:Humans; D006816:Huntington Disease / Q000235:genetics* / Q000503:physiopathology; D008297:Male; D008875:Middle Aged; D018092:Kainic Acid Receptors / Q000235:genetics*; D000097806:GluK2 Kainate Receptor
D018092:Kainic Acid Receptors; D000097806:GluK2 Kainate Receptor