Genetic landscape of Parkinson’s disease and related diseases in Luxembourg

ObjectivesTo explore the genetic architecture of PD in the Luxembourg Parkinson’s Study including cohorts of healthy people and patients with Parkinson’s disease (PD) and atypical parkinsonism (AP).Methods809 healthy controls, 680 PD and 103 AP were genotyped using the Neurochip array. We screened and validated rare single nucleotide variants (SNVs) and copy number variants (CNVs) within seven PD-causing genes (LRRK2, SNCA, VPS35, PRKN, PARK7, PINK1 and ATP13A2). Polygenic risk scores (PRSs) were generated using the latest genome-wide association study for PD. We then estimated the role of com... Mehr ...

Verfasser: Zied Landoulsi
Sinthuja Pachchek
Dheeraj Reddy Bobbili
Lukas Pavelka
Patrick May
Rejko Krüger
the NCER-PD Consortium
Dokumenttyp: Artikel
Erscheinungsdatum: 2023
Reihe/Periodikum: Frontiers in Aging Neuroscience, Vol 15 (2023)
Verlag/Hrsg.: Frontiers Media S.A.
Schlagwörter: Parkinson’s disease / genetics / Luxembourg / polygenic risk score / copy number variants / Neurosciences. Biological psychiatry. Neuropsychiatry / RC321-571
Sprache: Englisch
Permalink: https://search.fid-benelux.de/Record/base-29104384
Datenquelle: BASE; Originalkatalog
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Link(s) : https://doi.org/10.3389/fnagi.2023.1282174