Replication of twelve association studies for Huntington's disease residual age of onset in large Venezuelan kindreds.

ABSTRACT:

Background

The major determinant of age of onset in Huntington's disease is the length of the causative triplet CAG repeat. Significant variance remains, however, in residual age of onset even after repeat length is factored out. Many genetic polymorphisms have previously shown evidence of association with age of onset of Huntington's disease in several different populations.

Objective

To replicate these genetic association tests in 443 affected people from a large set of kindreds from Venezuela.

Methods

Previously tested polymorphisms were analysed in the HD gene itself (HD), the GluR6 kainate glutamate receptor (GRIK2), apolipoprotein E (APOE), the transcriptional coactivator CA150 (TCERG1), the ubiquitin carboxy-terminal hydrolase L1 (UCHL1), p53 (TP53), caspase-ac

SUBMITTER: Andresen JM 

PROVIDER: S-EPMC2597910 | biostudies-literature | 2007 Jan

REPOSITORIES: biostudies-literature