A multiancestral genome-wide exome array study of Alzheimer disease, frontotemporal dementia, and progressive supranuclear palsy.

ABSTRACT:

Importance

Previous studies have indicated a heritable component of the etiology of neurodegenerative diseases such as Alzheimer disease (AD), frontotemporal dementia (FTD), and progressive supranuclear palsy (PSP). However, few have examined the contribution of low-frequency coding variants on a genome-wide level.

Objective

To identify low-frequency coding variants that affect susceptibility to AD, FTD, and PSP.

Design, setting, and participants

We used the Illumina HumanExome BeadChip array to genotype a large number of variants (most of which are low-frequency coding variants) in a cohort of patients with neurodegenerative disease (224 with AD, 168 with FTD, and 48 with PSP) and in 224 control individuals without dementia enrolled between 2005-2012 from multiple ce

SUBMITTER: Chen JA 

PROVIDER: S-EPMC4397175 | biostudies-literature | 2015 Apr

REPOSITORIES: biostudies-literature