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Review
. 2020 Mar 31;9(4):966.
doi: 10.3390/jcm9040966.

Genetic and Epigenetic Etiology Underlying Autism Spectrum Disorder

Sang Hoon Yoon  1 , Joonhyuk Choi  1 , Won Ji Lee  1 , Jeong Tae Do  1
Affiliations
Review

Genetic and Epigenetic Etiology Underlying Autism Spectrum Disorder

Sang Hoon Yoon et al. J Clin Med. .

Abstract

Autism spectrum disorder (ASD) is a pervasive neurodevelopmental disorder characterized by difficulties in social interaction, language development delays, repeated body movements, and markedly deteriorated activities and interests. Environmental factors, such as viral infection, parental age, and zinc deficiency, can be plausible contributors to ASD susceptibility. As ASD is highly heritable, genetic risk factors involved in neurodevelopment, neural communication, and social interaction provide important clues in explaining the etiology of ASD. Accumulated evidence also shows an important role of epigenetic factors, such as DNA methylation, histone modification, and noncoding RNA, in ASD etiology. In this review, we compiled the research published to date and described the genetic and epigenetic epidemiology together with environmental risk factors underlying the etiology of the different phenotypes of ASD.

Keywords: autism spectrum disorder; epigenetic; etiology; genetic.

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Conflict of interest statement

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Figures

Figure 1
Figure 1
Comprehensive overview of the diverse etiology of autism spectrum disorder (ASD). Although definitive etiology and pathogenesis underlying ASD have not yet been identified, accumulated evidence has identified various risk factors, including environmental, genetic, and epigenetic factors.
Figure 2
Figure 2
Loci on chromosome 7 responsible for autism spectrum disorder (ASD). Chromosome 7 contains more ASD-related regions than other chromosomes. Genome-wide association studies found SPCH1 and AUTS1 (autism susceptibility locus), which encompass RELN, IMMP2L, FOXP2, and RAY1/ST7, to be the specific loci responsible for the defect in speech and language development in ASD patients.
See this image and copyright information in PMC

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