Expression QTL Mapping of Autism Risk Genes

Autism spectrum disorders are neurodevelopmental disorders impacted by genetic factors. Traditional approaches, such as genome-wide common and rare variants association analyses, provide ways to identify autism candidate regions. However, identification of susceptibility genes within these regions is difficult. Based on the knowledge that genetic variants may affect expression levels of associated or nearby genes, we map single nucleotide polymorphisms (SNPs) that are associated with expression of an autism candidate gene. These SNPs or expression quantitative trait loci (eQTLs) represent putative autism risk pathways. By identifying a regulatory network for a given candidate gene or region (based on previous SNP or CNV GWAS), we will obtain a better understanding of the underlying neurobiology and genetic architecture of autism and identify potential therapeutic targets at key regulators.