Association of GSK3B with Alzheimer disease and frontotemporal dementia.

ABSTRACT:

Background

Deposits of abnormally hyperphosphorylated tau are a hallmark of several dementias, including Alzheimer disease (AD), and about 10% of familial frontotemporal dementia (FTD) cases are caused by mutations in the tau gene. As a known tau kinase, GSK3B is a promising candidate gene in the remaining cases of FTD and in AD, for which tau mutations have not been found.

Objective

To examine the promoter of GSK3B and all 12 exons, including the surrounding intronic sequence, in patients with FTD, patients with AD, and aged healthy subjects to identify single-nucleotide polymorphisms associated with disease.

Design, setting, and participants

Single-nucleotide polymorphism frequency was examined in a case-control cohort of 48 patients with probable AD, 102 patients w

SUBMITTER: Schaffer BA 

PROVIDER: S-EPMC2841136 | biostudies-literature | 2008 Oct

REPOSITORIES: biostudies-literature