African American exome sequencing identifies potential risk variants at Alzheimer disease loci.

ABSTRACT:

Objective

In African Americans, we sought to systematically identify coding Alzheimer disease (AD) risk variants at the previously reported AD genome-wide association study (GWAS) loci genes.

Methods

We identified coding variants within genes at the 20 published AD GWAS loci by whole-exome sequencing of 238 African American participants, validated these in 300 additional participants, and tested their association with AD risk in the combined cohort of 538 and with memory endophenotypes in 319 participants.

Results

Two ABCA7 missense variants (rs3764647 and rs3752239) demonstrated significant association with AD risk. Variants in MS4A6A, PTK2B, and ZCWPW1 showed significant gene-based association. In addition, coding variants in ZCWPW1

SUBMITTER: N'Songo A 

PROVIDER: S-EPMC5406839 | biostudies-literature | 2017 Apr

REPOSITORIES: biostudies-literature