Genetic and Epidemiological Insights into RAB32-Linked Parkinson's Disease.

ABSTRACT:

Background

The p.Ser71Arg RAB32 variant was recently associated with Parkinson's disease (PD).

Objective

The aim was to investigate the presence of RAB32 variants in a large multiethnic group of individuals affected and unaffected by PD.

Methods

We queried our proprietary database that contains exome/genome sequencing data of >180,000 individuals. Additional PD patients were genotyped, and proximal p.Ser71Arg-associated haplotypes were constructed.

Results

p.Ser71Arg was present in 11 PD patients (73% from northern Italy) and in 35 individuals (89% from the Middle East and North Africa [MENA]) aged <50 years without PD-relevant symptoms. It was found in-cis to a set of proximal single-nucleotide polymorphisms. Additional RAB32 variants were comparably frequent

SUBMITTER: Radefeldt M 

PROVIDER: S-EPMC11752972 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature