Discovery of eQTL Alleles Associated with Autism Spectrum Disorder: A Case-Control Study.
Allison R HickmanBradley SeleeRini PaulyBenafsh HusainYuqing HangFrank Alex FeltusPublished in: Journal of autism and developmental disorders (2022)
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.
Keyphrases
- autism spectrum disorder
- attention deficit hyperactivity disorder
- intellectual disability
- resting state
- gene expression
- white matter
- copy number
- functional connectivity
- cerebral ischemia
- circulating tumor
- healthcare
- dna methylation
- single molecule
- genome wide
- multiple sclerosis
- mental health
- high throughput
- quality improvement
- working memory
- brain injury
- blood brain barrier
- subarachnoid hemorrhage
- congenital heart disease
- single cell