Exome sequencing analysis of Japanese autism spectrum disorder case-control sample supports an increased burden of synaptic function-related genes.
Journal
Translational psychiatry
ISSN: 2158-3188
Titre abrégé: Transl Psychiatry
Pays: United States
ID NLM: 101562664
Informations de publication
Date de publication:
11 07 2022
11 07 2022
Historique:
received:
01
02
2022
accepted:
17
06
2022
revised:
15
06
2022
entrez:
10
7
2022
pubmed:
11
7
2022
medline:
14
7
2022
Statut:
epublish
Résumé
Autism spectrum disorder (ASD) is a highly heritable, complex disorder in which rare variants contribute significantly to disease risk. Although many genes have been associated with ASD, there have been few genetic studies of ASD in the Japanese population. In whole exomes from a Japanese ASD sample of 309 cases and 299 controls, rare variants were associated with ASD within specific neurodevelopmental gene sets, including highly constrained genes, fragile X mental retardation protein target genes, and genes involved in synaptic function, with the strongest enrichment in trans-synaptic signaling (p = 4.4 × 10
Identifiants
pubmed: 35811316
doi: 10.1038/s41398-022-02033-6
pii: 10.1038/s41398-022-02033-6
pmc: PMC9271461
doi:
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
265Informations de copyright
© 2022. The Author(s).
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