Weiss, Daniel; Landoulsi, Zied; May, Patrick; 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; ... (2022). Genetic stratification of motor and QoL outcomes in Parkinson's disease in the EARLYSTIM study. Parkinsonism & related disorders, 103, pp. 169-174. Elsevier 10.1016/j.parkreldis.2022.08.025
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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.
Item Type: |
Journal Article (Original Article) |
|---|---|
Division/Institute: |
04 Faculty of Medicine > Department of Head Organs and Neurology (DKNS) > Clinic of Neurology |
UniBE Contributor: |
You, Hana, Krack, Paul |
Subjects: |
600 Technology > 610 Medicine & health |
ISSN: |
1353-8020 |
Publisher: |
Elsevier |
Language: |
English |
Submitter: |
Pubmed Import |
Date Deposited: |
21 Sep 2022 09:38 |
Last Modified: |
13 Jan 2023 11:23 |
Publisher DOI: |
10.1016/j.parkreldis.2022.08.025 |
PubMed ID: |
36117018 |
Uncontrolled Keywords: |
Alpha-synuclein Deep brain stimulation Genetic association Parkinson's disease |
BORIS DOI: |
10.48350/173095 |
URI: |
https://boris.unibe.ch/id/eprint/173095 |
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