| Title: | Association of Rare Variants in ARSA with Parkinson's Disease |
| Journal: | Movement Disorders |
| Published: | 28 Jun 2023 |
| Pubmed: | https://pubmed.ncbi.nlm.nih.gov/37381728/ |
| DOI: | https://doi.org/10.1002/mds.29521 |
| URL: | https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/mds.29521 |
Publication 10921
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Abstract
BACKGROUND: Several lysosomal genes are associated with Parkinson's disease (PD), yet the association between PD and ARSA remains unclear.</p>
OBJECTIVES: To study rare ARSA variants in PD.</p>
METHODS: To study rare ARSA variants (minor allele frequency < 0.01) in PD, we performed burden analyses in six independent cohorts with 5801 PD patients and 20,475 controls, followed by a meta-analysis.</p>
RESULTS: We found evidence for associations between functional ARSA variants and PD in four cohorts (P ≤ 0.05 in each) and in the meta-analysis (P = 0.042). We also found an association between loss-of-function variants and PD in the United Kingdom Biobank cohort (P = 0.005) and in the meta-analysis (P = 0.049). These results should be interpreted with caution as no association survived multiple comparisons correction. Additionally, we describe two families with potential co-segregation of ARSA p.E382K and PD.</p>
CONCLUSIONS: Rare functional and loss-of-function ARSA variants may be associated with PD. Further replications in large case-control/familial cohorts are required. © 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.</p>
25 Authors
- Konstantin Senkevich
- Mariia Beletskaia
- Aliza Dworkind
- Eric Yu
- Jamil Ahmad
- Jennifer A. Ruskey
- Farnaz Asayesh
- Dan Spiegelman
- Stanley Fahn
- Cheryl Waters
- Oury Monchi
- Yves Dauvilliers
- Nicolas Dupré
- Lior Greenbaum
- Sharon Hassin-Baer
- Ilya Nagornov
- Alexandr Tyurin
- Irina Miliukhina
- Alla Timofeeva
- Anton Emelyanov
- Jean-François Trempe
- Ekaterina Zakharova
- Roy N. Alcalay
- Sofya Pchelina
- Ziv Gan-Or
1 Application
| Application ID | Title |
|---|---|
| 45551 | Mechanistic modelling of neurodevelopment, neuroplasticity, and neurodegeneration |
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