Identification and Validation Novel Risk Genes for Autism Spectrum Disorder – A Meta-Analysis

摘要

Background: Autism spectrum disorders (ASD) are classified as neurodevelopmental disorders. The aim of this study was to investigate the genetic risk of ASD by systematically reviewing the published literature and performing a meta-analysis. Method: A comprehensive search of electronic databases was completed using Illumina BaseSpace Correlation Engine. Seven ASD case/control bio-sets from three different studies were selected, including 61 ASD cases and 83 controls. The top ASD risk genes from meta-analysis were further analyzed with an online open source ASD genetic database. Pathway enrichment analysis (PEA) and network connectivity analysis (NCA) were conducted to identify potential functional association between novel target genes and ASD. Results: Two novel genes (YBX3 and HSPA1A) were identified through the meta-analysis as top target genes for ASD. These genes play roles within multiple ASD genetic pathways, demonstrating solid connection with known ASD target genes. Moreover, NCA results revealed strong functional association between these genes and ASD. Conclusion: This study identified known as well as novel ASD target genes and their functional pathways that influence the ASD pathogenesis. Our results may add new insights for the understanding of the genetic mechanisms of ASD.