Merging data from genetic and epigenetic approaches to better understand autistic spectrum disorder

Epigenomics. 2016 Jan;8(1):85-104. doi: 10.2217/epi.15.92. Epub 2015 Nov 9.


Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder that is characterized by a wide range of cognitive and behavioral abnormalities. Genetic research has identified large numbers of genes that contribute to ASD phenotypes. There is compelling evidence that environmental factors contribute to ASD through influences that differentially impact the brain through epigenetic mechanisms. Both genetic mutations and epigenetic influences alter gene expression in different cell types of the brain. Mutations impact the expression of large numbers of genes and also have downstream consequences depending on specific pathways associated with the mutation. Environmental factors impact the expression of sets of genes by altering methylation/hydroxymethylation patterns, local histone modification patterns and chromatin remodeling. Herein, we discuss recent developments in the research of ASD with a focus on epigenetic pathways as a complement to current genetic screening.

Keywords: DNA hydroxymethylation; DNA methylation; common final pathway; genetics; prenatal environment; transcriptome.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Animals
  • Autism Spectrum Disorder / genetics*
  • Epigenesis, Genetic*
  • Gene Expression Regulation
  • Gene-Environment Interaction
  • Genetic Predisposition to Disease
  • Humans
  • Mutation*