Genetic landscape of Parkinson's disease and related diseases in Luxembourg.

ABSTRACT:

Objectives

To explore the genetic architecture of PD in the Luxembourg Parkinson's Study including cohorts of healthy people and patients with Parkinson's disease (PD) and atypical parkinsonism (AP).

Methods

809 healthy controls, 680 PD and 103 AP were genotyped using the Neurochip array. We screened and validated rare single nucleotide variants (SNVs) and copy number variants (CNVs) within seven PD-causing genes (LRRK2, SNCA, VPS35, PRKN, PARK7, PINK1 and ATP13A2). Polygenic risk scores (PRSs) were generated using the latest genome-wide association study for PD. We then estimated the role of common variants in PD risk by applying gene-set-specific PRSs.

Results

We identified 60 rare SNVs in seven PD-causing genes, nine

SUBMITTER: Landoulsi Z 

PROVIDER: S-EPMC10761438 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature