Language

English

Publication Date

3-25-2025

Journal

Cell Reports

DOI

10.1016/j.celrep.2025.115355

PMID

40056900

PMCID

PMC12124131

PubMedCentral® Posted Date

5-30-2025

PubMedCentral® Full Text Version

Author MSS

Abstract

Despite its significant heritability, the genetic basis of Parkinson's disease (PD) remains incompletely understood. Here, in analyzing whole-genome sequence data from 3,809 PD cases and 247,101 controls in the UK Biobank, we discover that protein-truncating variants in ITSN1 confer a substantially increased risk of PD (p = 6.1 × 10

Keywords

Parkinson Disease, Haploinsufficiency, Humans, Animals, alpha-Synuclein, Genetic Predisposition to Disease, Male, Drosophila Proteins, Female, Risk Factors, Drosophila, Case-Control Studies, Drosophila melanogaster, Aged, CP: Genomics, ITSN1, Intersectin 1, Parkinson's disease, SNCA, autism, endocytosis, neurodegeneration, rare variants, synaptic transmission, synuclein

Published Open-Access

yes

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