Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.
Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.
J Autism Dev Disord. 2021 Oct;51(10):3610-3623. doi: 10.1007/s10803-020-04792-x. Epub 2021 Jan 4.
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.
许多神经发育障碍 (NDDs) 具有共同的学习和行为障碍,以及诸如催产素激素失调等特征。在这里,我们研究了自闭症谱系 (ASD)、注意力缺陷多动 (ADHD) 和强迫症 (OCD) 患者中催产素受体基因 (OXTR) 的第 1 内含子中的 DNA 甲基化 (DNAm)。我们评估了 ASD(血液)、ADHD(唾液)和 OCD(唾液)患者队列中的 OXTR DNAm,与神经典型、组织匹配的对照相比,发现了性别的 DNAm 差异。与 DNAm 处于正常范围内的患者相比,ASD 或 ADHD 患者中表现出极端 DNAm 值的个体的智商和社交问题分别更低。这表明,OXTR DNAm 模式在 NDDs 中发生改变,并且可能与常见的临床结果相关。