A rare missense variant of CASP7 is associated with familial late-onset Alzheimer's disease.

ABSTRACT:

Introduction

The genetic architecture of Alzheimer's disease (AD) is only partially understood.

Methods

We conducted an association study for AD using whole sequence data from 507 genetically enriched AD cases (i.e., cases having close relatives affected by AD) and 4917 cognitively healthy controls of European ancestry (EA) and 172 enriched cases and 179 controls of Caribbean Hispanic ancestry. Confirmation of top findings from stage 1 was sought in two family-based genome-wide association study data sets and in a whole genome-sequencing data set comprising members from 42 EA and 115 Caribbean Hispanic families.

Results

We identified associations in EAs with variants in 12 novel loci. The most robust finding is a rare CASP7 missense variant (rs116437863; P = 2.44 × 10

SUBMITTER: Zhang X 

PROVIDER: S-EPMC6408965 | biostudies-literature | 2019 Mar

REPOSITORIES: biostudies-literature