Discovery of eQTL Alleles Associated with Autism Spectrum Disorder: A Case-Control Study

Autor/inn/en	Hickman, Allison R.; Selee, Bradley; Pauly, Rini; Husain, Benafsh; Hang, Yuqing; Feltus, Frank Alex
Titel	Discovery of eQTL Alleles Associated with Autism Spectrum Disorder: A Case-Control Study
Quelle	In: Journal of Autism and Developmental Disorders, 53 (2023) 9, S.3595-3612 (18 Seiten) PDF als Volltext Verfügbarkeit
Zusatzinformation	ORCID (Feltus, Frank Alex)
Sprache	englisch
Dokumenttyp	gedruckt; online; Zeitschriftenaufsatz
ISSN	0162-3257
DOI	10.1007/s10803-022-05631-x
Schlagwörter	Genetics; Autism Spectrum Disorders; Brain; Biochemistry + Suchen Sie Ihr Suchwort? Humangenetik; Autism; Autismus; Gehirn; Biochemie
Abstract	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. (As Provided).
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Erfasst von	ERIC (Education Resources Information Center), Washington, DC
Update	2024/1/01