Discovery of eQTL Alleles Associated with Autism Spectrum Disorder: A Case–Control Study.
- Resource Type
- Article
- Authors
- Hickman, Allison R.; Selee, Bradley; Pauly, Rini; Husain, Benafsh; Hang, Yuqing; Feltus, Frank Alex,
- Source
- Journal of Autism & Developmental Disorders; Sep2023, Vol. 53 Issue 9, p3595-3612, 18p, 2 Diagrams, 4 Charts, 4 Graphs
- Subject
- Brain
Genetics of autism
Alleles
Case-control method
Race
Fisher exact test
Gene expression
Sex distribution
Genotypes
Genetic markers
Descriptive statistics
Artificial neural networks
Secondary analysis
- Language
- ISSN
- 01623257
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. [ABSTRACT FROM AUTHOR]