Role of ABCA7 loss-of-function variant in Alzheimer's disease: a replication study in European-Americans.

ABSTRACT:

Introduction

A recent study found a significant increase of ABCA7 loss-of-function variants in Alzheimer's disease (AD) cases compared to controls. Some variants were located on noncoding regions, but it was demonstrated that they affect splicing. Here, we try to replicate the association between AD risk and ABCA7 loss-of-function variants at both the single-variant and gene level in a large and well-characterized European American dataset.

Methods

We genotyped the GWAS common variant and four rare variants previously reported for ABCA7 in 3476 European-Americans.

Results

We were not able to replicate the association at the single-variant level, likely due to a lower effect size on the European American population which led to limited statistical power. However, we di

SUBMITTER: Del-Aguila JL 

PROVIDER: S-EPMC4675010 | biostudies-literature | 2015 Dec

REPOSITORIES: biostudies-literature