2023
Association of rare variants in ARSA with Parkinson’s disease
Authors:
Senkevich, K., Beletskaia, M., Dworkind, A., Yu, E., Ahmad, J., Ruskey, J. A., Asayesh, F., Spiegelman, D., Fahn, S., Waters, C., Monchi, O., Dauvilliers, Y., Dupré, N., Greenbaum, L., Hassin-Baer, S., Nagornov, I., Tyurin, A., Miliukhina, I., Timofeeva, A., Emelyanov, A., … Gan-Or, Z.
Journal:
Movement Disorders
Abstract
Background: Several lysosomal genes are associated with Parkinson’s disease (PD), yet the association between PD and ARSA remains unclear.
Objectives: To study rare ARSA variants in PD.
Methods: To study rare ARSA variants (minor allele frequency<0.01) in PD, we performed burden analyses in six independent cohorts with a total of 5,801 PD patients and 20,475 controls, followed by a meta-analysis.
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 UKBB 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.E384K and PD.
Conclusions: Rare functional and loss-of-function ARSA variants may be associated with PD. Further replications in large case-control/familial cohorts are required.
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