NPJ Parkinson's disease · 2026

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

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Landoulsi Zied, Sreelatha Ashwin Ashok Kumar, Kuznetsov Nicole, Schulte Claudia, Bobbili Dheeraj Reddy, Montanucci Ludovica, Leu Costin, Niestroj Lisa-Marie, Hassanin Emadeldin, Domenighetti Cloé, Sugier Pierre-Emmanuel, Radivojkov-Blagojevic Milena, Lichtner Peter, Portugal Berta, Edsall Connor, Krüger Jens, Hernandez Dena G, Blauwendraat Cornelis, Mellick George D, Zimprich Alexander, Pirker Walter, Tan Manuela, Rogaeva Ekaterina, Lang Anthony, Koks Sulev, Taba Pille, Lesage Suzanne, Brice Alexis, Corvol Jean-Christophe, Chartier-Harlin Marie-Christine, Mutez Eugenie, Brockmann Kathrin, Deutschländer Angela B, Hadjigeorgiou Georges M, Dardiotis Efthimos, Stefanis Leonidas, Simitsi Athina Maria, Valente Enza Maria, Petrucci Simona, Straniero Letizia, Zecchinelli Anna, Pezzoli Gianni, Brighina Laura, Ferrarese Carlo, Annesi Grazia, Quattrone Andrea, Gagliardi Monica, Burbulla Lena F, Matsuo Hirotaka, Nakayama Akiyoshi, Hattori Nobutaka, Nishioka Kenya, Chung Sun Ju, Kim Yun Joong, Pavelka Lukas, Kolber Pierre, van de Warrenburg Bart Pc, Bloem Bastiaan R, Singleton Andrew B, Vitale Dan, Toft Mathias, Pihlstrom Lasse, Guedes Leonor Correia, Ferreira Joaquim J, Bardien Soraya, Carr Jonathan, Tolosa Eduardo, Ezquerra Mario, Pastor Pau, Wirdefeldt Karin, Pedersen Nancy L, Ran Caroline, Belin Andrea C, Puschmann Andreas, Clarke Carl E, Morrison Karen E, Krainc Dimitri, Farrer Matt J, Lal Dennis, Global Parkinson Genetics Program (GP2), Elbaz Alexis, Gasser Thomas, Krüger Rejko, Sharma Manu, May Patrick, Comprehensive Unbiased Risk Factor Assessment for Genetics and Environment in Parkinson’s Disease (COURAGE-PD) consortium

Аннотация

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.

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

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Аннотация