Abstract
BackgroundAutism spectrum disorders (ASD) are hereditary, heterogeneous and biologically complex neurodevelopmental disorders. Individual studies on gene expression in ASD cannot provide clear consensus conclusions. Therefore, a systematic review to synthesize the current findings from brain tissues and a search tool to share the meta-analysis results are urgently needed.MethodsHere, we conducted a meta-analysis of brain gene expression profiles in the current reported human ASD expression datasets (with 84 frozen male cortex samples, 17 female cortex samples, 32 cerebellum samples and 4 formalin fixed samples) and knock-out mouse ASD model expression datasets (with 80 collective brain samples). Then, we applied R language software and developed an interactive shared and updated database (dbMDEGA) displaying the results of meta-analysis of data from ASD studies regarding differentially expressed genes (DEGs) in the brain.ResultsThis database, dbMDEGA (https://dbmdega.shinyapps.io/dbMDEGA/), is a publicly available web-portal for manual annotation and visualization of DEGs in the brain from data from ASD studies. This database uniquely presents meta-analysis values and homologous forest plots of DEGs in brain tissues. Gene entries are annotated with meta-values, statistical values and forest plots of DEGs in brain samples. This database aims to provide searchable meta-analysis results based on the current reported brain gene expression datasets of ASD to help detect candidate genes underlying this disorder.ConclusionThis new analytical tool may provide valuable assistance in the discovery of DEGs and the elucidation of the molecular pathogenicity of ASD. This database model may be replicated to study other disorders.
Highlights
Autism spectrum disorders (ASD) are hereditary, heterogeneous and biologically complex neurodevelopmental disorders
We provide two additional separate forest plots (Fig. 2a). (ii) In the Human-tissue panel, the user can select a GSE number from the human ASD studies (GSE28475, GSE38322, and GSE28521) and submit a query in the sidebar
In our study, a meta-analysis was performed on current gene expression profiles of different brain tissues in human ASD studies and mouse ASD model studies; an open-access visualization database, dbMDEGA, was established with our meta-analysis results. dbMDEGA is the first database that displays the meta-analysis results of candidate differentially expressed genes (DEGs) in ASD, and it facilitates the exploration of unknown genetic causes of ASD
Summary
Autism spectrum disorders (ASD) are hereditary, heterogeneous and biologically complex neurodevelopmental disorders. Microarray technology is a powerful tool used to provide evidence for the genetic contribution to ASD and other complex disorders [6,7,8,9,10,11] In recent years, this technology has been applied to detect differentially expressed genes (DEGs) between autistic and normal individuals and to explore the pathology of ASD [6, 10,11,12]. Some studies have found significantly perturbed pathways in ASD, such as synaptic plasticity [13], neurogenesis and synaptic activity [12] These studies based on gene expression analysis can provide clues to guide future research
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