4.5 Article

DNA Methylation of the Oxytocin Receptor Across Neurodevelopmental Disorders

Journal

JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
Volume 51, Issue 10, Pages 3610-3623

Publisher

SPRINGER/PLENUM PUBLISHERS
DOI: 10.1007/s10803-020-04792-x

Keywords

ASD; ADHD; OCD; DNA methylation; OXTR

Funding

  1. Ontario Brain Institute-POND study

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Research showed that patients with autism spectrum (ASD) and attention deficit and hyperactivity (ADHD) disorders exhibit sex-specific DNA methylation differences in the OXTR gene, and individuals with extreme DNAm values had lower IQ and more social problems.
Many neurodevelopmental disorders (NDDs) share common learning and behavioural impairments, as well as features such as dysregulation of the oxytocin hormone. Here, we examined DNA methylation (DNAm) in the 1st intron of the oxytocin receptor gene, OXTR, in patients with autism spectrum (ASD), attention deficit and hyperactivity (ADHD) and obsessive compulsive (OCD) disorders. DNAm of OXTR was assessed for cohorts of ASD (blood), ADHD (saliva), OCD (saliva), which uncovered sex-specific DNAm differences compared to neurotypical, tissue-matched controls. Individuals with ASD or ADHD exhibiting extreme DNAm values had lower IQ and more social problems, respectively, than those with DNAm within normative ranges. This suggests that OXTR DNAm patterns are altered across NDDs and may be correlated with common clinical outcomes.

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