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Evaluating the role of ARSA in Chinese patients with Parkinson's disease.
- Source :
-
Neurobiology of aging [Neurobiol Aging] 2022 Jan; Vol. 109, pp. 269-272. Date of Electronic Publication: 2021 Aug 21. - Publication Year :
- 2022
-
Abstract
- Recent studies have suggested ARSA, a gene responsible for metachromatic leukodystrophy, could be a genetic modifier of Parkinson's disease (PD) pathogenesis, acting as a molecular chaperone for α-synuclein. To elucidate the role of ARSA variants in PD, we did a comprehensive analysis of ARSA variants by performing next-generation sequencing on 477 PD families, 1440 sporadic early-onset PD patients and 1962 sporadic late-onset PD patients and 2636 controls from Chinese mainland, as well as the association between ARSA variants and cognitive function of PD patients. We identified 2 familial PD following autosomal dominant inherence carrying rare variants of ARSA, but they had limited clinical significance. We detected a total of 81 coding variants of ARSA in our subjects but none of the identified variants were associated with either susceptibility or cognitive performance of PD, while loss-of-function variants showed slightly increased burden in late-onset PD (0.25% vs. 0%, p = 0.08). Our results suggested ARSA may not play important roles in PD of Chinese population.<br /> (Copyright © 2021 Elsevier Inc. All rights reserved.)
- Subjects :
- Asian People genetics
Cerebroside-Sulfatase physiology
Female
Humans
Loss of Function Mutation genetics
Male
alpha-Synuclein
Cerebroside-Sulfatase genetics
Genetic Association Studies methods
Genetic Predisposition to Disease genetics
Genetic Variation genetics
Negative Results
Parkinson Disease genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1558-1497
- Volume :
- 109
- Database :
- MEDLINE
- Journal :
- Neurobiology of aging
- Publication Type :
- Academic Journal
- Accession number :
- 34531044
- Full Text :
- https://doi.org/10.1016/j.neurobiolaging.2021.08.008