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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., DOI: 10.1038/s41531-025-01245-z (2026)
Postprint Research data DOI PMC
Open Access Gold as soon as Publ. Version/Full Text is submitted to ZB.
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
ISSN (print) / ISBN 2373-8057
e-ISSN 2373-8057
Journal npj Parkinson's Disease
Publisher Springer
Reviewing status Peer reviewed
Institute(s) Institute of Human Genetics (IHG)