PLXNA4 is associated with Alzheimer disease and modulates tau phosphorylation.

ABSTRACT:

Objective

Much of the genetic basis for Alzheimer disease (AD) is unexplained. We sought to identify novel AD loci using a unique family-based approach that can detect robust associations with infrequent variants (minor allele frequency < 0.10).

Methods

We conducted a genome-wide association study in the Framingham Heart Study (discovery) and NIA-LOAD (National Institute on Aging-Late-Onset Alzheimer Disease) Study (replication) family-based cohorts using an approach that accounts for family structure and calculates a risk score for AD as the outcome. Links between the most promising gene candidate and AD pathogenesis were explored in silico as well as experimentally in cell-based models and in human brain.

Results

Genome-wide significant association was identified wi

SUBMITTER: Jun G 

PROVIDER: S-EPMC4830273 | biostudies-literature | 2014 Sep

REPOSITORIES: biostudies-literature