Identifying genetic modifiers of age-associated penetrance in X-linked dystonia-parkinsonism.
Journal
Nature communications
ISSN: 2041-1723
Titre abrégé: Nat Commun
Pays: England
ID NLM: 101528555
Informations de publication
Date de publication:
28 05 2021
28 05 2021
Historique:
received:
24
09
2020
accepted:
23
04
2021
entrez:
29
5
2021
pubmed:
30
5
2021
medline:
9
6
2021
Statut:
epublish
Résumé
X-linked dystonia-parkinsonism is a neurodegenerative disorder caused by a founder retrotransposon insertion, in which a polymorphic hexanucleotide repeat accounts for ~50% of age at onset variability. Employing a genome-wide association study to identify additional factors modifying age at onset, we establish that three independent loci are significantly associated with age at onset (p < 5 × 10
Identifiants
pubmed: 34050153
doi: 10.1038/s41467-021-23491-4
pii: 10.1038/s41467-021-23491-4
pmc: PMC8163740
doi:
Types de publication
Journal Article
Observational Study
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
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