Enrichment of rare variants in E3 ubiquitin ligase genes in Early onset Parkinson's disease.
Neurobiol Aging
; 109: 273-278, 2022 01.
Article
em En
| MEDLINE
| ID: mdl-34544586
ABSTRACT
Altered ubiquitin signaling and disrupted protein quality control have been implicated in the pathogenesis of PD. The aim of the study was to systematically examine the overlaps between E3 ubiquitin ligase genes and early onset PD (EOPD). A total of 695 EOPD patients were analyzed aggregate burden for rare variants (MAF <0.001 and MAF <0.0001) in a total of 44 E3 ubiquitin ligase genes causing disorders involved in the nervous system. There was significant enrichment of the rare and rare damaging variants in the E3 ubiquitin ligase genes in EOPD patients. Detailly, in the gene-based level, the strongest associations were found in HERC1, IRF2BPL, KMT2D, RAPSN, RLIM, RNF168 and RNF216. Our findings highlighted the importance of UPS mechanism in the pathogenesis of PD from the genetic perspective. Moreover, our study also expanded the susceptible gene spectrum for PD.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Temas:
Geral
Base de dados:
MEDLINE
Assunto principal:
Doença de Parkinson
/
Variação Genética
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Predisposição Genética para Doença
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Ubiquitina-Proteína Ligases
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Estudos de Associação Genética
Tipo de estudo:
Prognostic_studies
Limite:
Female
/
Humans
/
Male
Idioma:
En
Revista:
Neurobiol Aging
Ano de publicação:
2022
Tipo de documento:
Article
País de afiliação:
China