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Landoulsi, Z.* ; Sreelatha, A.A.K.* ; Kuznetsov, N.* ; Schulte, C.* ; Bobbili, D.R.* ; Montanucci, L.* ; Leu, C.* ; Niestroj, L.M.* ; Hassanin, E.* ; Domenighetti, C.* ; Sugier, P.E.* ; Radivojkov-Blagojevic, M. ; Lichtner, P. ; Portugal, B.* ; Edsall, C.* ; Krüger, J.* ; Hernandez, D.G.* ; Blauwendraat, C.* ; Mellick, G.D.* ; Zimprich, A.* ; Pirker, W.* ; Tan, M.* ; Rogaeva, E.* ; Lang, A.* ; Koks, S.* ; Taba, P.* ; Lesage, S.* ; Brice, A.* ; Corvol, J.C.* ; Chartier-Harlin, M.C.* ; Mutez, E.* ; Brockmann, K.* ; Deutschländer, A.B.* ; Hadjigeorgiou, G.M.* ; Dardiotis, E.* ; Stefanis, L.* ; Simitsi, A.M.* ; Valente, E.M.* ; Petrucci, S.* ; Straniero, L.* ; Zecchinelli, A.* ; Pezzoli, G.* ; Brighina, L.* ; Ferrarese, C.* ; Annesi, G.* ; Quattrone, A.* ; Gagliardi, M.* ; Burbulla, L.F.* ; Matsuo, H.* ; Nakayama, A.* ; Hattori, N.* ; Nishioka, K.* ; Chung, S.J.* ; Kim, Y.J.* ; Pavelka, L.* ; Kolber, P.* ; van de Warrenburg, B.P.* ; Bloem, B.R.* ; Singleton, A.B.* ; Vitale, D.* ; Toft, M.* ; Pihlstrom, L.* ; Guedes, L.C.* ; Ferreira, J.J.* ; Bardien, S.* ; Carr, J.* ; Tolosa, E.* ; Ezquerra, M.* ; Pastor, P.* ; Wirdefeldt, K.* ; Pedersen, N.L.* ; Ran, C.* ; Belin, A.C.* ; Puschmann, A.* ; Clarke, C.E.* ; Morrison, K.E.* ; Krainc, D.* ; Farrer, M.J.* ; Lal, D.* ; Elbaz, A.* ; Gasser, T.* ; Krüger, R.* ; Sharma, M.* ; May, P.*

Genome-wide association study of copy number variations in Parkinson's disease.

npj Parkinsons Dis. 12:160 (2026)
Publ. Version/Full Text Research data DOI PMC
Open Access Gold
Creative Commons Lizenzvertrag
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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Publication type Article: Journal article
Document type Scientific Article
Keywords Mutations; Duplication; Sequence; Database; Locus
ISSN (print) / ISBN 2373-8057
e-ISSN 2373-8057
Journal npj Parkinson's Disease
Quellenangaben Volume: 12, Issue: 1, Pages: , Article Number: 160 Supplement: ,
Publisher Springer
Publishing Place Heidelberger Platz 3, Berlin, 14197, Germany
Reviewing status Peer reviewed
Institute(s) Institute of Human Genetics (IHG)
Grants Plan Ecophyto (French Ministry of Agriculture) - MRC and UK Medical Research Council
EU Joint Program for Neurodegenerative Disease research
Global Parkinson's Genetics Program - Michael J. Fox Foundation for Parkinson's Research (MJFF)
Fonds National de Recherche (FNR), Luxembourg, as part of the National Centre of Excellence in Research on Parkinson's Disease (NCER-PD)
National Centre for Excellence in Research on Parkinson's disease (NCER-PD) - Intramural Research Program of the National Institute on Aging, National Institutes of Health, Department of Health and Human Services
Canadian Consortium on Neurodegeneration in Aging - Estonian Research Council
Italian Ministry of Health
National Research Foundation of South Africa
South African Medical Research Council
Stellenbosch University, South Africa
South African Medical Research Council Centre for Tuberculosis Research
Spanish Ministry of Science and Innovation
Michael J. Fox Foundation
Agence nationale de recherche (ANR)
Michael J. Fox Foundation (USA Genetic Diversity in PD Program: GAP-India)
MSA Coalition
German Research Council
Karolinska Institutet Research Funds - Parkinson's UK
Karolinska Institutet Research Fund - Swedish Brain Foundation
Swedish Brain Foundation
Mrta Lundkvist Foundation
National Institutes of Health
Swedish Research Council
NRF-DST Centre of Excellence for Biomedical Tuberculosis Research