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

• DOI: 10.1007/s10803-022-05631-x
• Publication Date: 2022-06-23T19:15:39Z
• Authors: Allison R. Hickman; Bradley Selee; Rini Pauly; Benafsh Husain; Yuqing Hang; Frank Alex Feltus
• Keywords: Original Paper; 0303 health sciences; 03 medical and health sciences; Phenotype; Autism Spectrum Disorder; Case-Control Studies; Humans; Brain; Alleles

AbstractAutism 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.