The role of epigenetic change in autism spectrum disorders

Yuk Jing Loke, Anthony John Hannan, Jeffrey Mark Craig*

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

170 Citations (Scopus)
49 Downloads (Pure)


Autism spectrum disorders (ASD) are a heterogeneous group of neurodevelopmental disorders characterized by problems with social communication, social interaction, and repetitive or restricted behaviors. ASD are comorbid with other disorders including attention deficit hyperactivity disorder, epilepsy, Rett syndrome, and Fragile X syndrome. Neither the genetic nor the environmental components have been characterized well enough to aid diagnosis or treatment of non-syndromic ASD. However, genome-wide association studies have amassed evidence suggesting involvement of hundreds of genes and a variety of associated genetic pathways. Recently, investigators have turned to epigenetics, a prime mediator of environmental effects on genomes and phenotype, to characterize changes in ASD that constitute a molecular level on top of DNA sequence. Though in their infancy, such studies have the potential to increase our understanding of the etiology of ASD and may assist in the development of biomarkers for its prediction, diagnosis, prognosis, and eventually in its prevention and intervention. This review focuses on the first few epigenome-wide association studies of ASD and discusses future directions.

Original languageEnglish
Article number107
Pages (from-to)1-18
Number of pages18
JournalFrontiers in Neurology
Issue numberMAY
Publication statusPublished - 26 May 2015
Externally publishedYes

Bibliographical note

Copyright the Author(s) 2015. Version archived for private and non-commercial use with the permission of the author/s and according to publisher conditions. For further rights please contact the publisher.


  • Autism spectrum disorders
  • Epigenetics
  • Epigenomics
  • Gene expression
  • Methylation


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