Genetic architecture, epigenetic influence and environment exposure in the pathogenesis of Autism

Abstract

Autism spectrum disorder (ASD) is a spectral neurodevelopment disorder affecting approximately 1% of the population. ASD is characterized by impairments in reciprocal social interaction, communication deficits and restricted patterns of behavior. Multiple factors, including genetic/genomic, epigenetic/epigenomic and environmental, are thought to be necessary for autism development. Recent reviews have provided further insight into the genetic/genomic basis of ASD. It has long been suspected that epigenetic mechanisms, including DNA methylation, chromatin structures and long non-coding RNAs may play important roles in the pathology of ASD. In addition to genetic/genomic alterations and epigenetic/epigenomic influences, environmental exposures have been widely accepted as an important role in autism etiology, among which immune dysregulation and gastrointestinal microbiota are two prominent ones.

Keywords: DNA methylation; autism spectrum disorder; chromatin remodeling; copy number variants; environment exposure; epigenetic influence; gastrointestinal microbiota; gene mutation; genetic architecture; genetic pathways; genomic disorder; immune dysregulation; long non-coding RNAs; single nucleotide variants.