Identification of aberrant innate and adaptive immunity based on changes in global gene expression in the blood of adults with autism spectrum disorder.

摘要: BACKGROUND Autism spectrum disorder (ASD) is characterized as a neurodevelopmental disorder, and one of the main hypotheses regarding its cause genetic factors. A previous meta-analysis seven microarray studies RNA sequencing (RNA-seq) study using blood children with ASD identified dysregulation gene expressions relevant to immune system. In this study, we explored changes in global expression phenotype adults ASD. METHODS We recruited an RNA-seq cohort (ASD vs. control; n = 6 each) replication 19 conducted explore expression. then subjected significantly up- downregulated genes ontology (GO) core analyses. Weighted correlation network analysis (WGCNA) was performed all 11,617 detected identify ASD-specific network. RESULTS total, 117 83 were compared control group, respectively (p < 0.05 q 0.05). GO revealed that aberrant innate adaptive immunity more obvious upregulated than genes. WGCNA module including many immune-related associated natural killer cell signaling pathway. results for cohort, significant same trend found data confirmed MAFB 0.046), RPSAP58 0.030), G2MK 0.004). LIMITATIONS The sample size relatively small both cohorts. This examined mRNA level, so interaction between protein remains unclear. not because only targeted. CONCLUSIONS dysregulated dysfunction immunity. These findings may aid understanding pathogenesis