Blood gene expression signatures distinguish autism spectrum disorders from controls

Autism Spectrum Disorder (ASD) is a common pediatric cognitive disorder with high heritability. Yet no single genetic variant has accounted for more than a small fraction of cases. We sought to determine whether we could classify patients as having ASD vs. controls solely based on a multi-gene expression profiling of their peripheral blood cells. To test whether peripheral blood gene expression profiles could be used as a molecular diagnostic tool for distinguishing ASD from controls, we performed peripheral blood gene expression profiling on 170 patients with ASD and 115 controls collected from Boston area hospitals. We developed a 55-gene prediction model with a sample cohort of 66 male patients with ASD and 33 age-matched male controls using cross-validation strategy. Subsequently, 104 ASD and 82 controls were recruited and used as first and second validation sets, respectively.