ArticleParkinsonism & related disorders2017
Genetic risk factors in Finnish patients with Parkinson's disease.
Article in Parkinsonism & related disorders, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 22 citations in OpenAlex.
- Multi-ancestry analysis ofmedRxiv : the preprint server for health sciences · 2026Article
- Repeat Variants, Biomarkers, and Molecular Signatures in Parkinson's Disease:International journal of molecular sciences · 2025Article
- Exome sequencing in Asian populations identifies low-frequency and rare coding variation influencing Parkinson's disease risk.Nature aging · 2025Article
- A Global Perspective ofGenes · 2024Review
- Article
- Genetic Evidence for Endolysosomal Dysfunction in Parkinson's Disease: A Critical Overview.International journal of molecular sciences · 2023Review
- Emerging Therapeutic Strategies for Parkinson's Disease and Future Prospects: A 2021 Update.Biomedicines · 2022Review
- Review of the epidemiology and variability of LRRK2 non-p.Gly2019Ser pathogenic mutations in Parkinson's disease.Frontiers in neuroscience · 2022Review
- A Practical Approach to Early-Onset Parkinsonism.Journal of Parkinson's disease · 2022Review
- ADHD and Neurodegenerative Disease Risk: A Critical Examination of the Evidence.Frontiers in aging neuroscience · 2021Review
- Probiotic Bacillus subtilis Protects against α-Synuclein Aggregation in C. elegans.Cell reports · 2020Article
- Gut-Brain Axis: Potential Factors Involved in the Pathogenesis of Parkinson's Disease.Frontiers in neurology · 2020Review
- Article
- SMPD1 mutations, activity, and α-synuclein accumulation in Parkinson's disease.Movement disorders : official journal of the Movement Disorder Society · 2019Article
- Whole Exome Sequencing Study of Parkinson Disease and Related Endophenotypes in the Italian Population.Frontiers in neurology · 2019Article
Corrections and comments
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Authors and funding
12 authors at 6 institutions in 2 countries.
Funding
Abstract
introductionVariation contributing to the risk of Parkinson's disease (PD) has been identified in several genes and at several loci including GBA, SMPD1, LRRK2, POLG1, CHCHD10 and MAPT, but the frequencies of risk variants seem to vary according to ethnic background. Our aim was to analyze how variation in these genes contributes to PD in the Finnish population.
methodsThe subjects consisted of 527 Finnish patients with early-onset PD, 325 patients with late-onset PD and 403 population controls. We screened for known genetic risk variants in GBA, SMPD1, LRRK2, POLG1, CHCHD10 and MAPT. In addition, DNA from 225 patients with early-onset Parkinson's disease was subjected to whole exome sequencing (WES).
resultsWe detected a significant difference in the length variation of the CAG repeat in POLG1 between patients with early-onset PD compared to controls. The p.N370S and p.L444P variants in GBA contributed to a relative risk of 3.8 in early-onset PD and 2.5 in late-onset PD. WES revealed five variants in LRRK2 and SMPD1 that were found in the patients but not in the Finnish ExAC sequences. These are possible risk variants that require further confirmation. The p.G2019S variant in LRRK2, common in North African Arabs and Ashkenazi Jews, was not detected in any of the 849 PD patients.
conclusionsThe POLG1 CAG repeat length variation and the GBA p.L444P variant are associated with PD in the Finnish population.
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