Evaluating the role of ARSA in Chinese patients with Parkinson's disease.
Neurobiol Aging
; 109: 269-272, 2022 01.
Article
em En
| MEDLINE
| ID: mdl-34531044
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.
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Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Doença de Parkinson
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Variação Genética
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Cerebrosídeo Sulfatase
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Predisposição Genética para Doença
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Estudos de Associação Genética
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Resultados Negativos
Limite:
Female
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Humans
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Male
Idioma:
En
Ano de publicação:
2022
Tipo de documento:
Article