Weiss, Daniel, Landoulsi, Zied ORCID: 0000-0002-2327-3904, May, Patrick ORCID: 0000-0001-8698-3770, Sharma, Manu, Schupbach, Michael, You, Hana, Corvol, Jean Christophe, Paschen, Steffen, Helmers, Ann-Kristin, Barbe, Michael, Fink, Gereon, Kuehn, Andrea A., Courbon, Christine Brefel, Wojtecki, Lars, Damier, Philippe, Fraix, Valerie, Houeto, Jean-Luc, Regis, Jean, Sixel-Doering, Friederike, Pinsker, Marcus O., Thobois, Stephane, Gharabaghi, Alireza, Stoker, Valerie, Timmermann, Lars, Schnitzler, Alfons ORCID: 0000-0002-6414-7939, Krack, Paul, Vidailhet, Marie, Deuschl, Guenther and Kruger, Rejko (2022). Genetic stratification of motor and QoL outcomes in Parkinson's disease in the EARLYSTIM study. Parkinsonism Relat. Disord., 103. S. 169 - 175. OXFORD: ELSEVIER SCI LTD. ISSN 1873-5126

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Abstract

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 pro-gression 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 pre-dicted 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
Creators:
CreatorsEmailORCIDORCID Put Code
Weiss, DanielUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Landoulsi, ZiedUNSPECIFIEDorcid.org/0000-0002-2327-3904UNSPECIFIED
May, PatrickUNSPECIFIEDorcid.org/0000-0001-8698-3770UNSPECIFIED
Sharma, ManuUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schupbach, MichaelUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
You, HanaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Corvol, Jean ChristopheUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Paschen, SteffenUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Helmers, Ann-KristinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Barbe, MichaelUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Fink, GereonUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kuehn, Andrea A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Courbon, Christine BrefelUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Wojtecki, LarsUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Damier, PhilippeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Fraix, ValerieUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Houeto, Jean-LucUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Regis, JeanUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Sixel-Doering, FriederikeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Pinsker, Marcus O.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Thobois, StephaneUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gharabaghi, AlirezaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Stoker, ValerieUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Timmermann, LarsUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schnitzler, AlfonsUNSPECIFIEDorcid.org/0000-0002-6414-7939UNSPECIFIED
Krack, PaulUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Vidailhet, MarieUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Deuschl, GuentherUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kruger, RejkoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
URN: urn:nbn:de:hbz:38-698655
DOI: 10.1016/j.parkreldis.2022.08.025
Journal or Publication Title: Parkinsonism Relat. Disord.
Volume: 103
Page Range: S. 169 - 175
Date: 2022
Publisher: ELSEVIER SCI LTD
Place of Publication: OXFORD
ISSN: 1873-5126
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
SUBTHALAMIC NUCLEUS STIMULATION; DEEP-BRAIN-STIMULATION; TRIAL; RISKMultiple languages
Clinical NeurologyMultiple languages
URI: http://kups.ub.uni-koeln.de/id/eprint/69865

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