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Journal article
Genome-wide association study of copy number variations in Parkinson's disease
NPJ Parkinson's Disease, Vol.12, 160
2026
PMID: 42009659
Abstract
We investigated the role of copy number variations (CNVs) in Parkinson's disease (PD) using genotyping data from 10,815 patients (2731 early-onset PD, EOPD) and 8901 controls from the COURAGE-PD consortium. CNVs were analyzed using a sliding window genome-wide association and burden approach. No genome-wide significant CNVs were detected in the overall cohort, but a robust deletion spanning exons 2-6 of PRKN was identified in EOPD cases, validated by MLPA, and replicated in the GP2 dataset (23,089 cases, 18,824 controls). CNV burden was significantly enriched in PD-related genes, primarily driven by PRKN, with the strongest effect observed in EOPD. PRKN CNV carriers showed earlier age at onset, confirmed by survival analysis. No association was observed for genome-wide or large CNV burden. Our findings reinforce the pivotal role of PRKN deletions in early-onset PD and highlight the need for high-resolution CNV analysis in large cohorts to uncover additional rare contributors to PD risk.
Details
- Title
- Genome-wide association study of copy number variations in Parkinson's disease
- Authors/Creators
- Zied Landoulsi - Luxembourg Institute of HealthAshwin Ashok Kumar Sreelatha - University of TübingenNicole Kuznetsov - Data Tecnica International (United States)Claudia Schulte - Hertie Institute for Clinical Brain ResearchDheeraj Reddy Bobbili - University of LuxembourgLudovica Montanucci - The University of Texas Health Science Center at HoustonCostin Leu - University College LondonLisa-Marie Niestroj - University of CologneEmadeldin Hassanin - Arbed (Luxembourg)Cloé Domenighetti - Université Paris-SaclayPierre-Emmanuel Sugier - Université Paris-SaclayMilena Radivojkov-Blagojevic - Helmholtz Zentrum MünchenPeter Lichtner - Helmholtz Zentrum MünchenBerta Portugal - Luxembourg Institute of HealthConnor Edsall - National Institutes of HealthJens Krüger - University of TübingenDena G Hernandez - National Institutes of HealthCornelis Blauwendraat - National Institutes of HealthGeorge D Mellick - Griffith UniversityAlexander Zimprich - Medical University of ViennaWalter Pirker - Department of Neurology, Klinik Ottakring, Vienna, AustriaManuela Tan - University College LondonEkaterina Rogaeva - Occupational Cancer Research CentreAnthony Lang - Toronto Western HospitalSulev Koks - Murdoch UniversityPille Taba - Tartu University HospitalSuzanne Lesage - Centre National de la Recherche ScientifiqueAlexis Brice - Centre National de la Recherche ScientifiqueJean-Christophe Corvol - Assistance Publique – Hôpitaux de ParisMarie-Christine Chartier-Harlin - Université de LilleEugenie Mutez - Université de LilleKathrin Brockmann - Hertie Institute for Clinical Brain ResearchAngela B Deutschländer - Ludwig-Maximilians-Universität MünchenGeorges M Hadjigeorgiou - University of CyprusEfthimos Dardiotis - University Hospital of LarissaLeonidas Stefanis - Eginition HospitalAthina Maria Simitsi - National and Kapodistrian University of AthensEnza Maria Valente - University of PaviaSimona Petrucci - CTO Andrea AlesiniLetizia Straniero - Humanitas UniversityAnna Zecchinelli - Azienda Socio Sanitaria Territoriale LarianaGianni Pezzoli - Istituto Ortopedico Gaetano PiniLaura Brighina - Azienda Ospedaliera San GerardoCarlo Ferrarese - Azienda Ospedaliera San GerardoGrazia Annesi - Institute for Biomedical Research and InnovationAndrea Quattrone - Magna Graecia UniversityMonica Gagliardi - Magna Graecia UniversityLena F Burbulla - German Center for Neurodegenerative DiseasesHirotaka Matsuo - National Defense Medical CollegeAkiyoshi Nakayama - National Defense Medical CollegeNobutaka Hattori - Juntendo UniversityKenya Nishioka - Juntendo UniversitySun Ju Chung - University of UlsanYun Joong Kim - Yonsei UniversityLukas Pavelka - Luxembourg Institute of HealthPierre Kolber - Centre Hospitalier de LuxembourgBart Pc van de Warrenburg - Radboud University NijmegenBastiaan R Bloem - National Institutes of HealthAndrew B Singleton - National Institutes of HealthDan Vitale - Data Tecnica International (United States)Mathias Toft - Oslo University HospitalLasse Pihlstrom - Oslo University HospitalLeonor Correia Guedes - University of LisbonJoaquim J Ferreira - University of LisbonSoraya Bardien - Stellenbosch UniversityJonathan Carr - Stellenbosch UniversityEduardo Tolosa - Universitat de BarcelonaMario Ezquerra - Consorci Institut D'Investigacions Biomediques August Pi I SunyerPau Pastor - University Hospital Mútua de TerrassaKarin Wirdefeldt - Karolinska InstitutetNancy L Pedersen - Karolinska InstitutetCaroline Ran - Karolinska InstitutetAndrea C Belin - Karolinska InstitutetAndreas Puschmann - Lund UniversityCarl E Clarke - Sandwell & West Birmingham Hospitals NHS TrustKaren E Morrison - Queen's University BelfastDimitri Krainc - Northwestern UniversityMatt J Farrer - University of FloridaDennis Lal - Cleveland ClinicAlexis Elbaz - Université Paris-SaclayThomas Gasser - Hertie Institute for Clinical Brain ResearchRejko Krüger - University of LuxembourgManu Sharma - University of TübingenPatrick May - University of LuxembourgGlobal Parkinson Genetics Program (GP2)
- Publication Details
- NPJ Parkinson's Disease, Vol.12, 160
- Publisher
- Springer Nature
- Identifiers
- 991005877690707891
- Copyright
- © The Author(s) 2026.
- Murdoch Affiliation
- Personalised Medicine Centre
- Language
- English
- Resource Type
- Journal article
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