ArticlemedRxiv : the preprint server for health sciences2025
Genome-wide association study of copy number variations in Parkinson's disease.
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85 authors.
Zied LandoulsiLuxembourg Centre for Systems Biomedicine, University of Luxembourg; L-4367, Esch-sur-Alzette, Luxembourg.
Ashwin Ashok Kumar SreelathaCentre for Genetic Epidemiology, Institute for Clinical Epidemiology and Applied Biometry, University of Tubingen, Germany.
Nicole KuznetsovCenter for Alzheimer's and Related Dementias (CARD), National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.
Claudia SchulteDepartment for Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tubingen, Germany.
Dheeraj Reddy BobbiliLuxembourg Centre for Systems Biomedicine, University of Luxembourg; L-4367, 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; L-4367, Esch-sur-Alzette, Luxembourg.ORCID 0000-0003-3909-9127
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 Mu nchen, Neuherberg, Germany.
Peter LichtnerInstitute of Human Genetics, Helmholtz Zentrum Mu nchen, Neuherberg, Germany.
Berta PortugalDepartment of Precision Health, Luxembourg Institute of Health, Strassen, Luxembourg.
Connor EdsallMolecular Genetics Section, Laboratory of Neurogenetics, NIA, NIH, Bethesda, MD 20892, USA.ORCID 0000-0001-6876-1496
Jens Kru GerGroup of Applied Bioinformatics, University of Tu bingen, Tu bingen, Germany.ORCID 0000-0002-2636-3163
Dena G HernandezMolecular Genetics Section, Laboratory of Neurogenetics, NIA, NIH, Bethesda, MD 20892, USA.
Cornelis BlauwendraatMolecular Genetics Section, Laboratory of Neurogenetics, NIA, NIH, Bethesda, MD 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, 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.ORCID 0000-0001-6087-6643
Pille TabaDepartment of Neurology and Neurosurgery, University of 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, Germany.
Angela B DeutschländerDepartment of Neurology, Ludwig Maximilians University of Munich, Germany.
Georges M HadjigeorgiouDepartment of Neurology, Medical School, University of Cyprus, Nicosia, Cyprus.ORCID 0000-0001-5386-4273
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 Simitsi1st 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.ORCID 0000-0002-0600-6820
Simona PetrucciUOC Medical Genetics and Advanced Cell Diagnostics, S. Andrea University Hospital, Rome, Italy.
Letizia StranieroDepartment of Biomedical Sciences - Humanitas University, Milan, Italy.ORCID 0000-0002-1733-7561
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), Tu bingen, 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.ORCID 0000-0002-2956-1552
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 SingletonMolecular Genetics Section, Laboratory of Neurogenetics, NIA, NIH, Bethesda, MD 20892, USA.
Dan VitaleCenter for Alzheimer's and Related Dementias (CARD), National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.ORCID 0000-0002-0637-3671
Mathias ToftDepartment of Neurology, Oslo University Hospital, Oslo, Norway.ORCID 0000-0002-6723-6865
Lasse PihlstromDepartment of Neurology, Oslo University Hospital, Oslo, Norway.ORCID 0000-0002-7635-8645
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, South Africa.ORCID 0000-0002-3508-3438
Jonathan CarrDivision of Neurology, Department of Medicine, Faculty of Medicine and Health Sciences, Stellenbosch University, 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.ORCID 0000-0003-3246-6641
Pau PastorFundació per la Recerca Biomèdica i Social Mútua Terrassa, Terrassa, Barcelona, Spain.ORCID 0000-0002-7493-8777
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, 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, United States.ORCID 0000-0002-4716-1886
Matt J FarrerDepartment of Neurology, McKnight Brain Institute, University of Florida, Gainesville, FL, USA.ORCID 0000-0003-1159-5321
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.ORCID 0000-0001-9724-5490
Thomas GasserDepartment for Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tubingen, Germany.
Rejko KrügerLuxembourg Centre for Systems Biomedicine, University of Luxembourg; L-4367, Esch-sur-Alzette, Luxembourg.
Manu SharmaCentre for Genetic Epidemiology, Institute for Clinical Epidemiology and Applied Biometry, University of Tubingen, Germany.
Patrick MayLuxembourg Centre for Systems Biomedicine, University of Luxembourg; L-4367, Esch-sur-Alzette, Luxembourg.ORCID 0000-0001-8698-3770
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
Objective: To investigate the impact of copy number variations (CNVs) on Parkinson's disease (PD) pathogenesis using genome-wide data and explore their role in sporadic PD. Methods: We analyzed CNV data from 11,035 PD patients (including 2,731 early-onset PD (EOPD)) and 8,901 controls from the COURAGE-PD consortium using a sliding window CNV-GWAS and genome-wide burden analysis. The independent dataset from the Global Parkinson Genetics Program (GP2) consisted of 23,089 cases and 18,824 controls were used to validate our initial findings. Results: The exploratory dataset identifies multiple CNV regions associated with PD risk. The nominated CNV loci were not confirmed in an independent dataset, except that only a deletion in the Interpretation: The largest CNV-based GWAS on PD highlights both the promise and pitfalls of array-based CNV detection in PD and underscores the relevance of whole-genome sequencing approaches in resolving the role of CNV in PD. The array-based findings are prone towards false positive findings that might arise either from platform limitations and/or cohort biases. Future studies require improved genotyping resolution and rigorous cross-cohort validation to reliably assess CNV contributions to PD risk.
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