ArticleNPJ Parkinson's disease2026
Genome-wide association study of copy number variations in Parkinson's disease.
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Article in NPJ Parkinson's disease, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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2citing papers in PubMed
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2 citing papers in PubMed.
- Genetic variation in antidiabetic drug targets: associations with Parkinson's disease risk and age at onset.NPJ Parkinson's disease · 2026Article
- Repeat Variants, Biomarkers, and Molecular Signatures in Parkinson's Disease:International journal of molecular sciences · 2025Article
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Authors and funding
86 authors.
Zied LandoulsiLuxembourg Centre for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette, Luxembourg. zied.landoulsi@lih.lu.
Ashwin Ashok Kumar SreelathaCentre for Genetic Epidemiology, Institute for Clinical Epidemiology and Applied Biometry, University of Tubingen, Tubingen, Germany.
Nicole KuznetsovCenter for Alzheimer's and Related Dementias (CARD), National Institute on Aging, National Institutes of Health, Bethesda, USA.
Claudia SchulteDepartment for Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tubingen, Tubingen, Germany.
Dheeraj Reddy BobbiliLuxembourg Centre for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette, Luxembourg.
Ludovica MontanucciDepartment of Neurology, McGovern Medical School, The University of Texas Health Science Center at Houston, Houston, TX, USA.
Costin LeuDepartment of Clinical and Experimental Epilepsy, Institute of Neurology, University College London, London, UK.
Lisa-Marie NiestrojCologne Center for Genomics (CCG), Medical Faculty of the University of Cologne, Cologne, Germany.
Emadeldin HassaninLuxembourg Centre for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette, Luxembourg.
Cloé DomenighettiUniversité Paris-Saclay, UVSQ, Inserm, Gustave Roussy, CESP, 94805, Villejuif, France.
Pierre-Emmanuel SugierUniversité Paris-Saclay, UVSQ, Inserm, Gustave Roussy, CESP, 94805, Villejuif, France.
Milena Radivojkov-BlagojevicInstitute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.
Peter LichtnerInstitute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.
Berta PortugalDepartment of Precision Health, Luxembourg Institute of Health, Strassen, Luxembourg.
Connor EdsallMolecular Genetics Section, Laboratory of Neurogenetics, NIA, NIH, Bethesda, 20892, USA.
Jens KrügerGroup of Applied Bioinformatics, University of Tübingen, Tübingen, Germany.
Dena G HernandezMolecular Genetics Section, Laboratory of Neurogenetics, NIA, NIH, Bethesda, 20892, USA.
Cornelis BlauwendraatMolecular Genetics Section, Laboratory of Neurogenetics, NIA, NIH, Bethesda, 20892, USA.
George D MellickGriffith Institute for Drug Discovery, Griffith University, Don Young Road, Nathan, Queensland, Australia.
Alexander ZimprichDepartment of Neurology, Medical University of Vienna, Vienna, Austria.
Walter PirkerDepartment of Neurology, Klinik Ottakring, Vienna, Austria.
Manuela TanDepartment of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, UK.
Ekaterina RogaevaTanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario, Canada.
Anthony LangTanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario, Canada.
Sulev KoksCentre for Molecular Medicine and Innovative Therapeutics, Murdoch University, Murdoch, Australia.
Pille TabaDepartment of Neurology and Neurosurgery, University of Tartu, Tartu, Estonia.
Suzanne LesageSorbonne Université, Paris Brain Institute - ICM, Inserm, CNRS, Paris, France.
Alexis BriceSorbonne Université, Paris Brain Institute - ICM, Inserm, CNRS, Paris, France.
Jean-Christophe CorvolSorbonne Université, Paris Brain Institute - ICM, Inserm, CNRS, Paris, France.
Marie-Christine Chartier-HarlinUniv. Lille, Inserm, CHU Lille, UMR-S 1172 - JPArc - Centre de Recherche Lille Neurosciences & Cognition, F-59000, Lille, France.
Eugenie MutezUniv. Lille, Inserm, CHU Lille, UMR-S 1172 - JPArc - Centre de Recherche Lille Neurosciences & Cognition, F-59000, Lille, France.
Kathrin BrockmannDepartment for Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tubingen, Tubingen, Germany.
Angela B DeutschländerDepartment of Neurology, Ludwig Maximilians University of Munich, Munich, Germany.
Georges M HadjigeorgiouDepartment of Neurology, Medical School, University of Cyprus, Nicosia, Cyprus.
Efthimos DardiotisDepartment of Neurology, Laboratory of Neurogenetics, University of Thessaly, University Hospital of Larissa, Larissa, Greece.
Leonidas StefanisCenter of Clinical Research, Experimental Surgery and Translational Research, Biomedical Research Foundation of the Academy of Athens, Athens, Greece.
Athina Maria Simitsist1 Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece.
Enza Maria ValenteDepartment of Molecular Medicine, University of Pavia, Pavia, Italy.
Simona PetrucciUOC Medical Genetics and Advanced Cell Diagnostics, S. Andrea University Hospital, Rome, Italy.
Letizia StranieroDepartment of Biomedical Sciences - Humanitas University, Milan, Italy.
Anna ZecchinelliParkinson Institute, Azienda Socio Sanitaria Territoriale (ASST) Gaetano Pini/CTO, Milano, Italia.
Gianni PezzoliParkinson Institute, Azienda Socio Sanitaria Territoriale (ASST) Gaetano Pini/CTO, Milano, Italia.
Laura BrighinaDepartment of Neurology, San Gerardo Hospital, Milan, Italy.
Carlo FerrareseDepartment of Neurology, San Gerardo Hospital, Milan, Italy.
Grazia AnnesiInstitute for Biomedical Research and Innovation, National Research Council, Cosenza, Italy.
Andrea QuattroneInstitute of Neurology, Department of Medical and Surgical Sciences, Magna Graecia University, Catanzaro, Italy.
Monica GagliardiDepartment of Medical and Surgical Sciences, Neuroscience Research Center, Magna Graecia University, Catanzaro, Italy.
Lena F BurbullaGerman Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.
Hirotaka MatsuoDepartment of Integrative Physiology and Bio-Nano Medicine, National Defense Medical College, Saitama, 359-8513, Japan.
Akiyoshi NakayamaDepartment of Integrative Physiology and Bio-Nano Medicine, National Defense Medical College, Saitama, 359-8513, Japan.
Nobutaka HattoriDepartment of Neurology, Juntendo University School of Medicine, Bunkyo-ku, Tokyo, 113-8421, Japan.
Kenya NishiokaDepartment of Neurology, Juntendo University School of Medicine, Bunkyo-ku, Tokyo, 113-8421, Japan.
Sun Ju ChungDepartment of Neurology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, South Korea.
Yun Joong KimDepartment of Neurology, Yonsei University College of Medicine, Seoul, South Korea.
Lukas PavelkaTransversal Translational Medicine, Luxembourg Institute of Health, Strassen, Luxembourg.
Pierre KolberCentre Hospitalier du Luxembourg, Parkinson Research Clinic, Luxembourg, Luxembourg.
Bart Pc van de WarrenburgRadboud University Medical Centre, Donders Institute for Brain, Cognition and Behaviour, Department of Neurology, Nijmegen, The Netherlands.
Bastiaan R BloemRadboud University Medical Centre, Donders Institute for Brain, Cognition and Behaviour, Department of Neurology, Nijmegen, The Netherlands.
Andrew B SingletonCenter for Alzheimer's and Related Dementias (CARD), National Institute on Aging, National Institutes of Health, Bethesda, USA.
Dan VitaleCenter for Alzheimer's and Related Dementias (CARD), National Institute on Aging, National Institutes of Health, Bethesda, USA.
Mathias ToftDepartment of Neurology, Oslo University Hospital, Oslo, Norway.
Lasse PihlstromDepartment of Neurology, Oslo University Hospital, Oslo, Norway.
Leonor Correia GuedesInstituto de Medicina Molecular João Lobo Antunes, Faculdade de Medicina, Universidade de Lisboa, Lisbon, Portugal.
Joaquim J FerreiraInstituto de Medicina Molecular João Lobo Antunes, Faculdade de Medicina, Universidade de Lisboa, Lisbon, Portugal.
Soraya BardienDivision of Molecular Biology and Human Genetics, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Stellenbosch University, Stellenbosch, South Africa.
Jonathan CarrDivision of Neurology, Department of Medicine, Faculty of Medicine and Health Sciences, Stellenbosch University, Stellenbosch, South Africa.
Eduardo TolosaParkinson's disease &Movement Disorders Unit, Neurology Service, Hospital Clínic de Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), University of Barcelona, Barcelona, Spain.
Mario EzquerraLab of Parkinson Disease and Other Neurodegenerative Movement Disorders, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Institut de Neurociències, Universitat de Barcelona, ES-08036, Barcelona, Catalonia, Spain.
Pau PastorFundació per la Recerca Biomèdica i Social Mútua Terrassa, Terrassa, Barcelona, Spain.
Karin WirdefeldtDepartment of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden.
Nancy L PedersenDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Caroline RanDepartment of Neuroscience, Karolinska Institutet, Stockholm, Sweden.
Andrea C BelinDepartment of Neuroscience, Karolinska Institutet, Stockholm, Sweden.
Andreas PuschmannLund University, Skåne University Hospital, Department of Clinical Sciences Lund, Neurology, Getingevägen 4, 221 85, Lund, Sweden.
Carl E ClarkeUniversity of Birmingham and Sandwell and West Birmingham Hospitals NHS Trust, Birmingham, United Kingdom.
Karen E MorrisonFaculty of Medicine, Health and Life Sciences, Queens University, Belfast, United Kingdom.
Dimitri KraincDepartment of Neurology, Northwestern University Feinberg School of Medicine, Chicago, Illinois, 60611, USA.
Matt J FarrerDepartment of Neurology, McKnight Brain Institute, University of Florida, Gainesville, FL, USA.
Dennis LalDepartment of Neurology, McGovern Medical School, The University of Texas Health Science Center at Houston, Houston, TX, USA.
Global Parkinson Genetics Program (GP2)
Alexis ElbazUniversité Paris-Saclay, UVSQ, Inserm, Gustave Roussy, CESP, 94805, Villejuif, France.
Thomas GasserDepartment for Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tubingen, Tubingen, Germany.
Rejko KrügerLuxembourg Centre for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette, Luxembourg.
Manu Sharma *Centre for Genetic Epidemiology, Institute for Clinical Epidemiology and Applied Biometry, University of Tubingen, Tubingen, Germany. manu.sharma@uni-tuebingen.de.
Patrick May *Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette, Luxembourg.
Comprehensive Unbiased Risk Factor Assessment for Genetics and Environment in Parkinson’s Disease (COURAGE-PD) consortium
Funding
Genome wide SNP analysis in Parkinson's diseaseZ01AG000949 · NIA · NATIONAL INSTITUTE ON AGING · PI SINGLETON, ANDREW B · 2006 to 2008
$2.6MEnvironmental Factors for Parkinson's in Swedish TwinsR01ES010758 · NIEHS · UNIVERSITY OF SOUTHERN CALIFORNIA · PI PEDERSEN, NANCY L · 2001 to 2004
$1.4MDEMENTIA IN TWINSR01AG008724 · NIA · UNIVERSITY OF SOUTHERN CALIFORNIA · PI GATZ, MARGARET · 1990 to 2002
$1.4MIntramural NIH HHS Z01 AG000949NIA NIH HHS R01 AG008724NIEHS NIH HHS R01 ES010758
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.
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