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ERIC Number: EJ1390413
Record Type: Journal
Publication Date: 2023-Sep
Pages: 18
Abstractor: As Provided
ISBN: N/A
ISSN: ISSN-0162-3257
EISSN: EISSN-1573-3432
Available Date: N/A
Discovery of eQTL Alleles Associated with Autism Spectrum Disorder: A Case-Control Study
Hickman, Allison R.; Selee, Bradley; Pauly, Rini; Husain, Benafsh; Hang, Yuqing; Feltus, Frank Alex
Journal of Autism and Developmental Disorders, v53 n9 p3595-3612 Sep 2023
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.
Springer. Available from: Springer Nature. One New York Plaza, Suite 4600, New York, NY 10004. Tel: 800-777-4643; Tel: 212-460-1500; Fax: 212-460-1700; e-mail: customerservice@springernature.com; Web site: https://link.springer.com/
Publication Type: Journal Articles; Reports - Research
Education Level: N/A
Audience: N/A
Language: English
Sponsor: National Science Foundation (NSF)
Authoring Institution: N/A
Grant or Contract Numbers: 1659300; 1444461
Author Affiliations: N/A