biostudies-literatureUnknownLandoulsi ZIntramural NIH HHSNIA NIH HHSNIEHS NIH HHS<h4>Objective</h4>Our study investigates the impact of copy number variations (CNVs) on Parkinson's disease (PD) pathogenesis using genome-wide data, aiming to uncover novel genetic mechanisms and improve the understanding of the role of CNVs in sporadic PD.<h4>Methods</h4>We applied a sliding window approach to perform CNV-GWAS and conducted genome-wide burden analyses on CNV data from 11,035 PD patients (including 2,731 early-onset PD (EOPD)) and 8,901 controls from the COURAGE-PD consortium.<h4>Results</h4>We identified 14 genome-wide significant CNV loci associated with PD, including one deletion and 13 duplications. Among these, duplications in 7q22.1, 11q12.3 and 7q33 displayed the highest effect. Two significant duplications overlapped with PD-related genes <i>SNCA</i> and <i>VPS13CmedRxiv : the preprint server for health sciences2024.08.21.24311915https://www.ebi.ac.uk/biostudies/studies/S-EPMC11370542biostudies-literatureGenome-wide association study of copy number variations in Parkinson's disease.PMC11370542Z01 AG000949R01 AG008724R01 ES010758Dardiotis EMatsuo HPihlstrom LTolosa EMellick GDLal DHernandez DGCarr JGasser TNishioka KClarke CEChartier-Harlin MCEdsall CEzquerra MBelin ACNiestroj LMRogaeva ETan MMontanucci LBrice ASharma MFarrer MJPezzoli GKru Ger JBobbili DRToft MCorvol JCPortugal BValente EMKolber PGuedes LCPavelka LMutez EGagliardi MLeu CFerrarese CSreelatha AAKHadjigeorgiou GMLesage SNakayama Avan de Warrenburg BPBlauwendraat CStefanis LBardien SWirdefeldt KSugier PELandoulsi ZRan CZimprich AStraniero LMorrison KEZecchinelli AAnnesi GChung SJKoks SBrockmann KKim YJPedersen NLFerreira JJBurbulla LFPirker WHassanin EMay PSingleton ABPuschmann ATaba PRadivojkov-Blagojevic MLang AEPastor PDomenighetti CPetrucci SLichtner PSimitsi AMBrighina LDeutschlander ABKrainc DSchulte CKruger RElbaz ABloem BRQuattrone AHattori NfalseGenome-wide association study of copy number variations in Parkinson's disease.<h4>Objective</h4>Our study investigates the impact of copy number variations (CNVs) on Parkinson's disease (PD) pathogenesis using genome-wide data, aiming to uncover novel genetic mechanisms and improve the understanding of the role of CNVs in sporadic PD.<h4>Methods</h4>We applied a sliding window approach to perform CNV-GWAS and conducted genome-wide burden analyses on CNV data from 11,035 PD patients (including 2,731 early-onset PD (EOPD)) and 8,901 controls from the COURAGE-PD consortium.<h4>Results</h4>We identified 14 genome-wide significant CNV loci associated with PD, including one deletion and 13 duplications. Among these, duplications in 7q22.1, 11q12.3 and 7q33 displayed the highest effect. Two significant duplications overlapped with PD-related genes <i>SNCA</i> and <i>VPS13C2024-01-01T00:00:00Z2024 Aug2026-05-28T03:14:00.741Z2025-04-06T10:13:51.323ZS-EPMC113705423922871510.1101/2024.08.21.24311915