Journal article
Community‐based genetic study of Parkinson's disease in Estonia
Acta Neurologica Scandinavica, Vol.143(1), pp.89-95
2021
Abstract
Objective
To examine the genetic variability of Estonian Parkinson's disease (PD) patients using an ongoing epidemiological study in combination with a genetic analysis.
Methods
This study was a community‐based genetic screening study of 189 PD patients, and 158 age‐ and sex‐matched controls screened for potential mutations in 9 PD genes using next‐generation sequencing and multiplex ligation‐dependent probe amplification method. Different clinimetric scales and questionnaires were used to examine PD patients and assess clinical characteristics and severity of the disease.
Results
The overall frequency of pathogenic PD‐causing variants was 1.1% (2/189), and any rare genetic variant was present in 21.2% (40/189) of the patients and in 8.2% (13/158) of the controls (P < .05). Variants of unknown significance accounted for 10.6% (20/189). Frequency of any GBA variant among PD patients was 10.1% (19/189) and in controls 3.8% (6/158). The frequency of any GBA variant in PD compared to controls was significantly higher (P = .035; OR 2.82; CI 95% 1.05‐8.87). Burden of rare variants was not different between patients and controls. Also, a novel GBA pathogenic variant p.E10X was detected.
Conclusion
Among different genetic variants identified in Estonian PD patients, GBA variants are the most common, while an overall pathogenic variant frequency was 1.1%.
Details
- Title
- Community‐based genetic study of Parkinson's disease in Estonia
- Authors/Creators
- M. Muldmaa (Author/Creator) - University of TartuN.E. Mencacci (Author/Creator) - Northwestern UniversityA. Pittman (Author/Creator) - UCL Institute of NeurologyL. Kadastik‐Eerme (Author/Creator)K. Sikk (Author/Creator) - North Estonia Medical CentreP. Taba (Author/Creator) - University of TartuJ. Hardy (Author/Creator) - UCL Institute of NeurologyS. Kõks (Author/Creator) - Murdoch University
- Publication Details
- Acta Neurologica Scandinavica, Vol.143(1), pp.89-95
- Publisher
- Wiley
- Identifiers
- 991005544942507891
- Copyright
- © 2020 John Wiley & Sons A/S.
- Murdoch Affiliation
- Centre for Molecular Medicine and Innovative Therapeutics
- Language
- English
- Resource Type
- Journal article
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Source: InCites
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- Collaboration types
- Domestic collaboration
- International collaboration
- Citation topics
- 1 Clinical & Life Sciences
- 1.52 Neurodegenerative Diseases
- 1.52.67 Parkinson's Disease
- Web Of Science research areas
- Clinical Neurology
- ESI research areas
- Neuroscience & Behavior