Department of Anatomy and Developmental Biology, Graduate School of Medicine, Kyoto University, Kyoto, 606-8501, Japan.
Department of Cognitive and Behavioral Science, Graduate School of Human and Environmental Studies, Kyoto University, Kyoto, 606-8501, Japan.
Sci Rep. 2019 Sep 20;9(1):13662. doi: 10.1038/s41598-019-50250-9.
Increasing evidence suggests that epigenetic mechanisms play a role in the etiology of autism spectrum disorder (ASD). To date, several studies have attempted to identify epigenetic biomarkers for ASD. However, reliable markers remain to be established and most of these studies have focused on pediatric patients with ASD. In this study, we sought to find an epigenetic DNA methylation biomarker from peripheral blood for adult patients with high-functioning ASD. DNA methylation profiles were analyzed using the Illumina 450 K methylation array. To identify robust candidate markers, we employed two types of machine-learning algorithms for marker selection. We identified a potential marker (cg20793532) for which is the AUC value was 0.79. Notably, cg20793532 was annotated to the PPP2R2C gene, which was hypermethylated and down-regulated in blood from ASD patients compared to that in the controls. Although requiring careful interpretation, this pilot study seems to provide a potential blood biomarker for identifying individuals with high-functioning ASD.
越来越多的证据表明，表观遗传机制在自闭症谱系障碍（ASD）的发病机制中起作用。迄今为止，已有几项研究试图确定 ASD 的表观遗传生物标志物。然而，可靠的标志物仍有待建立，而且这些研究大多集中在患有 ASD 的儿科患者上。在这项研究中，我们试图从外周血中找到用于高功能 ASD 成年患者的表观遗传 DNA 甲基化生物标志物。使用 Illumina 450K 甲基化阵列分析 DNA 甲基化谱。为了识别稳健的候选标志物，我们采用了两种类型的机器学习算法进行标志物选择。我们确定了一个潜在的标志物（cg20793532），其 AUC 值为 0.79。值得注意的是，cg20793532 被注释到 PPP2R2C 基因，与对照组相比，ASD 患者血液中的 PPP2R2C 基因呈高甲基化和下调状态。虽然需要仔细解释，但这项初步研究似乎为识别高功能 ASD 个体提供了一个潜在的血液生物标志物。
