Integrative gene expression analysis of peripheral blood from autism spectrum disorder cases

Autism spectrum disorders is an umbrella term used for the set of neurodevelopmental conditions with earlychildhood onset characterized by difficulties in social interactions and repetitive behaviors. Recent advancesin high-throughput sequencing and public data sharing have provided us with new opportunities to investigatethe underlying mechanisms of such complex diseases. nevertheless, identification of disorder heritability andgene regulatory signatures is still a challenge since each gene mutation involved in the disease only standsfor a minor subset of autistic cases. Accordingly, transcriptomic analysis is a great approach since providesus the ability to identify pathways associated with disease-related genes. In this research, we used publiclyavailable microarray datasets of peripheral blood of autistic people and typically developed cases in searchof candidate risk genes. We incorporated disease genes from the Simon Foundation Autism ResearchInitiative database and gene sets of interest from prior literature for their association with our differentiallyexpressed genes in blood datasets. Our pathway enrichment analyses results have shown critical pathwayssuch as those in chromatin remodeling and cell adhesion which are crucial to neuron plasticity. Theseprocesses are an essential part of brain development in early childhood. It is remarkable since autism emergesby the time brain development happens which is evident that our other differentially expressed genes canintroduce candidate risk genes in autism. These findings prove the applicability of data integration in thesearch for potential risk genes and pathways with almost high confidence. Our analysis would be a candidatereproducible method to illuminate pathways, heritability, and etiology of autism spectrum disorders.

کلیدواژه ها:

autism spectrum disorder ، data integration ، microarray ، peripheral blood ، gene expression