Analysis of Whole-Exome Sequencing Data for Alzheimer Disease Stratified by APOE Genotype.

ABSTRACT:

Importance

Previous genome-wide association studies of common variants identified associations for Alzheimer disease (AD) loci evident only among individuals with particular APOE alleles.

Objective

To identify APOE genotype-dependent associations with infrequent and rare variants using whole-exome sequencing.

Design, setting, and participants

The discovery stage included 10 441 non-Hispanic white participants in the Alzheimer Disease Sequencing Project. Replication was sought in 2 independent, whole-exome sequencing data sets (1766 patients with AD, 2906 without AD [controls]) and a chip-based genotype imputation data set (8728 patients with AD, 9808 controls). Bioinformatics and functional analyses were conducted using clinical, cognitive, neuropathologic, whole-exom

SUBMITTER: Ma Y 

PROVIDER: S-EPMC6563544 | biostudies-literature | 2019 Sep

REPOSITORIES: biostudies-literature