Overlap between Parkinson disease and Alzheimer disease in ABCA7 functional variants.

ABSTRACT:

Objective

Given their reported function in phagocytosis and clearance of protein aggregates in Alzheimer disease (AD), we hypothesized that variants in ATP-binding cassette transporter A7 (ABCA7) might be involved in Parkinson disease (PD).

Methods

ABCA7 variants were identified using whole-exome sequencing (WES) on 396 unrelated patients with PD and 222 healthy controls. In addition, we used the publicly available WES data from the Parkinson's Progression Markers Initiative (444 patients and 153 healthy controls) as a second, independent data set.

Results

We observed a higher frequency of loss-of-function (LOF) variants and rare putative highly functional variants (Combined Annotation Dependent Depletion [CADD] >20) in clinically diagnosed patients with PD than in he

SUBMITTER: Nuytemans K 

PROVIDER: S-EPMC4817903 | biostudies-literature | 2016 Feb

REPOSITORIES: biostudies-literature