Discovery of eQTL Alleles Associated with Autism Spectrum Disorder: A Case-Control Study.
Autism spectrum disorder
Classification
Neural network
eQTLs
Journal
Journal of autism and developmental disorders
ISSN: 1573-3432
Titre abrégé: J Autism Dev Disord
Pays: United States
ID NLM: 7904301
Informations de publication
Date de publication:
Sep 2023
Sep 2023
Historique:
accepted:
27
05
2022
medline:
31
8
2023
pubmed:
24
6
2022
entrez:
23
6
2022
Statut:
ppublish
Résumé
Autism Spectrum Disorder (ASD) is a complex neurodevelopmental disorder characterized by challenges in social communication as well as repetitive or restrictive behaviors. Many genetic associations with ASD have been identified, but most associations occur in a fraction of the ASD population. Here, we searched for eQTL-associated DNA variants with significantly different allele distributions between ASD-affected and control. Thirty significant DNA variants associated with 174 tissue-specific eQTLs from ASD individuals in the SPARK project were identified. Several significant variants fell within brain-specific regulatory regions or had been associated with a significant change in gene expression in the brain. These eQTLs are a new class of biomarkers that could control the myriad of brain and non-brain phenotypic traits seen in ASD-affected individuals.
Identifiants
pubmed: 35739433
doi: 10.1007/s10803-022-05631-x
pii: 10.1007/s10803-022-05631-x
pmc: PMC10465380
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
3595-3612Subventions
Organisme : National Science Foundation (US)
ID : 1659300
Informations de copyright
© 2022. The Author(s).
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