Integration of Transcriptome and Exome Genotyping Identifies Significant Variants with Autism Spectrum Disorder.
RNA sequencing
SNPs
autism spectrum disorder
gene expression
neurodevelopmental disorder
regulatory variants
Journal
Pharmaceuticals (Basel, Switzerland)
ISSN: 1424-8247
Titre abrégé: Pharmaceuticals (Basel)
Pays: Switzerland
ID NLM: 101238453
Informations de publication
Date de publication:
27 Jan 2022
27 Jan 2022
Historique:
received:
06
12
2021
revised:
16
01
2022
accepted:
25
01
2022
entrez:
26
2
2022
pubmed:
27
2
2022
medline:
27
2
2022
Statut:
epublish
Résumé
Autism is a complex disease with genetic predisposition factors. Real factors for treatment and early diagnosis are yet to be defined. This study integrated transcriptome and exome genotyping for identifying functional variants associated with autism spectrum disorder and their impact on gene expression to find significant variations. More than 1800 patients were screened, and 70 (47 male/23 female) with an average age of 7.56 ± 3.68 years fulfilled the DSM-5 criteria for autism. Analysis revealed 682 SNPs of 589 genes significantly (
Identifiants
pubmed: 35215271
pii: ph15020158
doi: 10.3390/ph15020158
pmc: PMC8880056
pii:
doi:
Types de publication
Journal Article
Langues
eng
Subventions
Organisme : Deanship of Scientific Research, Imam Abdulrahman Bin Faisal University
ID : 2016-057-IRMC and 2017-202-IRMC
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