Article (Scientific journals)
Genetic stratification of motor and QoL outcomes in Parkinson's disease in the EARLYSTIM study
Weiss, Daniel; Landoulsi, Zied; May, Patrick et al.
2022In Parkinsonism and Related Disorders
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Keywords :
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 center :
- Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group)
- Luxembourg Centre for Systems Biomedicine (LCSB): Clinical & Experimental Neuroscience (Krüger Group)
Disciplines :
Genetics & genetic processes
Neurology
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
More authors (19 more) Less
External co-authors :
yes
Language :
English
Title :
Genetic stratification of motor and QoL outcomes in Parkinson's disease in the EARLYSTIM study
Publication date :
07 September 2022
Journal title :
Parkinsonism and Related Disorders
ISSN :
1353-8020
eISSN :
1873-5126
Publisher :
Elsevier, Netherlands
Peer reviewed :
Peer Reviewed verified by ORBi
Focus Area :
Systems Biomedicine
Available on ORBilu :
since 11 September 2022

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