Role of Lysosomal Gene Variants in Modulating GBA-Associated Parkinson's Disease Risk.

ABSTRACT:

Background

To date, variants in the GBA gene represent the most frequent large-effect genetic factor associated with Parkinson's disease (PD). However, the reason why individuals with the same GBA variant may or may not develop neurodegeneration and PD is still unclear.

Objectives

Therefore, we evaluated the contribution of rare variants in genes responsible for lysosomal storage disorders (LSDs) to GBA-PD risk, comparing the burden of deleterious variants in LSD genes in PD patients versus asymptomatic subjects, all carriers of deleterious variants in GBA.

Methods

We used a custom next-generation sequencing panel, including 50 LSD genes, to screen 305 patients and 207 controls (discovery cohort). Replication and meta-analysis were performed in two replication cohorts

SUBMITTER: Straniero L 

PROVIDER: S-EPMC9310717 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature