Whole exome sequencing of rare variants in EIF4G1 and VPS35 in Parkinson disease.

ABSTRACT:

Objective

Recently, vacuolar protein sorting 35 (VPS35) and eukaryotic translation initiation factor 4 gamma 1 (EIF4G1) have been identified as 2 causal Parkinson disease (PD) genes. We used whole exome sequencing for rapid, parallel analysis of variations in these 2 genes.

Methods

We performed whole exome sequencing in 213 patients with PD and 272 control individuals. Those rare variants (RVs) with <5% frequency in the exome variant server database and our own control data were considered for analysis. We performed joint gene-based tests for association using RVASSOC and SKAT (Sequence Kernel Association Test) as well as single-variant test statistics.

Results

We identified 3 novel VPS35 variations that changed the coded amino acid (nonsynonymous) in 3 cases. Two var

SUBMITTER: Nuytemans K 

PROVIDER: S-EPMC3653206 | biostudies-literature | 2013 Mar

REPOSITORIES: biostudies-literature