Reference : Genetic stratification of motor and QoL outcomes in Parkinson's disease in the EARLYS...

	Document type :	Scientific journals : Article
	Discipline(s) :	Life sciences : Genetics & genetic processes Human health sciences : Neurology
	Focus Areas :	Systems Biomedicine
	To cite this reference:	http://hdl.handle.net/10993/52077

Title :	Genetic stratification of motor and QoL outcomes in Parkinson's disease in the EARLYSTIM study
Language :	English
Author, co-author :	Weiss, Daniel [> >]
	Landoulsi, Zied [University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB) > Bioinformatics Core]
	May, Patrick [University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB) > Bioinformatics Core]
	Sharma, Manu [> >]
	Schüpbach, Michael [> >]
	You, Hana [> >]
	Corvol, Jean Christophe [> >]
	Paschen, Steffen [> >]
	Helmers, Ann-Kristin [> >]
	Barbe, Michael [> >]
	Fink, Gereon [> >]
	Kühn, Andrea A. [> >]
	Courbon, Christine Brefel [> >]
	Wojtecki, Lars [> >]
	Damier, Philippe [> >]
	Fraix, Valerie [> >]
	Houeto, Jean-Luc [> >]
	Regis, Jean [> >]
	Sixel-Döring, Friederike [> >]
	Pinsker, Marcus O. [> >]
	Thobois, Stephane [> >]
	Gharabaghi, Alireza [> >]
	Stoker, Valerie [> >]
	Timmermann, Lars [> >]
	Schnitzler, Alfons [> >]
	Krack, Paul [> >]
	Vidailhet, Marie [> >]
	Deuschl, Günther [> >]
	Krüger, Rejko [University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB) > Translational Neuroscience]
Publication date :	7-Sep-2022
Journal title :	Parkinsonism and Related Disorders
Publisher :	Elsevier
Peer reviewed :	Yes
Audience :	International
ISSN :	1353-8020
Country :	Netherlands
Keywords :	[en] Parkinson's disease ; Deep brain stimulation ; Alpha-synuclein ; Genetic association
Abstract :	[en] Purpose The decision for subthalamic deep brain stimulation (STN-DBS) in Parkinson's disease (PD) relies on clinical predictors. Whether genetic variables could predict favourable or unfavourable decisions is under investigation. Objective First, we aimed to reproduce the previous observation that SNCA rs356220 was associated with favourable STN-DBS motor response. In additional exploratory analyses, we studied if other PD risk and progression variants from the latest GWAS are associated with therapeutic outcome. Further, we evaluated the predictive value of polygenic risk scores. Methods We comprehensively genotyped patients from the EarlyStim cohort using NeuroChip, and assessed the clinico-genetic associations with longitudinal outcome parameters. Results The SNCA rs356220 variant did not predict UPDRS III outcomes. However, it was associated with quality of life improvement in secondary analyses. Several polymorphisms from previously identified GWAS hits predicted motor or quality of life outcomes in DBS patients. Polygenic risk scores did not predict any outcome parameter. Conclusions Our findings support the hypothesis that different common genetic markers are associated with favourable quality of life outcomes of STN-DBS in PD. These findings can be the basis for further validation in larger and independent cohorts.
Research centres :	Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) ; Luxembourg Centre for Systems Biomedicine (LCSB): Clinical & Experimental Neuroscience (Krüger Group)
Target :	Researchers ; Professionals
Permalink :	http://hdl.handle.net/10993/52077
DOI :	10.1016/J.PARKRELDIS.2022.08.025
Other URL :	https://linkinghub.elsevier.com/retrieve/pii/S1353802022002826

	File(s) associated to this reference
	Fulltext file(s): File Commentary Version Size Access Limited access Weiss2022.ParkRelDis.pdf Publisher postprint 1.15 MB Request a copy

All documents in ORBi^lu are protected by a user license.

 

University of Luxembourg Library |  Feedback |  Legal notices Site Map