Faculty, Staff and Student Publications

Language

English

Publication Date

8-1-2025

Journal

npj Parkinson's Disease

DOI

10.1038/s41531-025-01076-y

PMID

40750593

PMCID

PMC12316845

PubMedCentral® Posted Date

8-1-2025

PubMedCentral® Full Text Version

Post-print

Abstract

Genetic studies of Parkinson's disease (PD) have focused on single nucleotide variants (SNVs), with limited attention to copy number variants (CNVs). This study investigates CNVs in PD using candidate PD-related genes and genome-wide approaches. We identified CNVs from the ProtectMove project genotyping data of 2364 PD patients and 2909 controls using PennCNV. We validated 119 of 137 detected CNVs in PD-related genes (87%) using MLPA/qPCR, including 104 in PRKN, six in PARK7, four in SNCA, and others in LRRK2, RAB32, and VPS35. CNVs were present in 2.4% of patients and 1.5% of controls. Notably, 0.9% of patients carried potentially disease-causing CNVs compared to 0.1% in controls. CNVs were enriched in patients (OR = 1.67, p = 0.03) due to PRKN CNVs, particularly in early-onset cases. These results highlight the importance of CNVs in PD, particularly in PRKN, and suggest that rare CNVs in LRRK2 and RAB32 may contribute to disease risk and diagnostic potential.

Keywords

Genetics, Parkinson's disease

Published Open-Access

yes

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