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Springer Nature [academic journals on nature.com], Molecular Psychiatry, 4(19), p. 495-503, 2013

DOI: 10.1038/mp.2013.41

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Methylomic analysis of monozygotic twins discordant for autism spectrum disorder and related behavioural traits

Journal article published in 2013 by C. C. Y. Wong, E. L. Meaburn, A. Ronald, T. S. Price ORCID, A. R. Jeffries, Leonard C. Schalkwyk ORCID, R. Plomin ORCID, J. Mill
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Abstract

Autism spectrum disorder (ASD) defines a group of common, complex neurodevelopmental disorders. Although the aetiology of ASD has a strong genetic component, there is considerable monozygotic (MZ) twin discordance indicating a role for non-genetic factors. Because MZ twins share an identical DNA sequence, disease-discordant MZ twin pairs provide an ideal model for examining the contribution of environmentally driven epigenetic factors in disease. We performed a genome-wide analysis of DNA methylation in a sample of 50 MZ twin pairs (100 individuals) sampled from a representative population cohort that included twins discordant and concordant for ASD, ASD-associated traits and no autistic phenotype. Within-twin and between-group analyses identified numerous differentially methylated regions associated with ASD. In addition, we report significant correlations between DNA methylation and quantitatively measured autistic trait scores across our sample cohort. This study represents the first systematic epigenomic analyses of MZ twins discordant for ASD and implicates a role for altered DNA methylation in autism.Molecular Psychiatry advance online publication, 23 April 2013; doi:10.1038/mp.2013.41.