Integrated Analysis and Identification of Genetic Risk Alleles Related to Autism Spectrum Disorder

Autism spectrum disorder (ASD) is a range of conditions, including difficulties in cognition, social interaction, communication, and repetitive motion. To understand the mechanism of ASD and to look for its potential therapeutic targets, this study performed an integrative analysis of risk alleles of ASD via multiple databases, investigated the functional impact of gene expression by these alleles and identified differential gene expression between patients with ASD and controls. CDH9 and MET are especially highlighted for linkage with ASD, due to genes’ high expression in the brain, SNP’s regulation in gene expression, and differential expression in neurons of ASD and control. DOCK4 (rs2217262), NTM (rs1550976), CDH9 (rs4307059), MACROD2 (rs4141463), SLTM (rs7179456), and MET (rs1858830) are suggested genes and SNPs possibly associated to ASD based on genes’ high expression levels in brain and alternate SNP’s regulation on gene expression levels. Neuron recognition, signal transduction, and cell adhesion are pathways adjusted by these genes, thus suggesting their potential role in ASD mechanism.