Epigenetics and Autism Spectrum Disorder: Is There a Correlation?
Autism spectrum disorder (ASD) is the term for a range of development disorders caused by
a combination of genetic and environmental factors (Kubota et al., 2012; Loke et al., 2015;
Constantino and Marrus, 2017). ASD includes a “spectrum” of effects, skill detriments, and
disability—including communication issues, limited interest in activities, and other aspects of
work and life functionality. The current occurrence of ASD in the United States is about 1 in
68 children—an astonishing increase of over a factor of 100 compared to 2,000 (https://www.
cdc.gov/ncbddd/autism/addm.html) (Zablotsky et al., 2015). Thus, it is imperative to develop
novel treatment modalities for which understanding the pathogenetic factors underlying ASD
is of utmost importance. Recently, the multigenic condition of ASD has been speculated to be
dependent on epigenetic effects (Loke et al., 2015), although such exact factors remain unclear.
Epigenetics refers to the heritable changes in gene expression without changing the underlying
DNA sequence (Schiele and Domschke, 2017). In this opinion article, we will briefly discuss the
recent advancements in understanding the contribution of epigenetic factors that can play a role in
determining the predisposition to autism (Table 1). We emphasize that there is a need to include
greater sample size and appropriate tissue type in order to better understand the role of epigenetics
in ASD.