Abstract
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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We would like to thank all of the patients and families for participating in our research study and the physicians, clinical staff, and research staff for their assistance. We would also like to thank the granting agencies whose funding supported this work, including the Ontario Brain Institute-POND study.
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MTS analyzed and interpreted the data, generated figures/tables, and wrote the manuscript. SJG and MJ helped with manuscript writing and editing, and data analysis. DTB and DG helped design the study, manage collaborations and assisted with data analysis and interpretation. IY, RR, YL, RZ and CZ prepared the samples, designed the assays and generated the DNA methylation data. RN, SG, PS, SWS, WR, and EA provided patient samples (or were involved in patient recruitment), phenotypic data, and assisted with study design, as well as secure funding and help prepare the manuscript. RW is the principal investigator and was involved in all aspects of the study. All authors have read and approved the manuscript.
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Siu, M.T., Goodman, S.J., Yellan, I. et al. DNA Methylation of the Oxytocin Receptor Across Neurodevelopmental Disorders. J Autism Dev Disord 51, 3610–3623 (2021). https://doi.org/10.1007/s10803-020-04792-x
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DOI: https://doi.org/10.1007/s10803-020-04792-x