Molecular Genetics & Enzymology Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.
Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.
J Autism Dev Disord. 2024 Jun;54(6):2266-2273. doi: 10.1007/s10803-023-05965-0. Epub 2023 Apr 4.
Autism is associated with genomic instability, which is regulated by telomere length (TL) and index of global methylation (LINE-1). This study will determine relative TL (RTL) and LINE-1 methylation percentage for 69 patients and 33 control subjects to evaluate their potential role as biomarkers for autism. The results displayed a significant decrease of both RTL and LINE-1 methylation in autistic cases relative to controls (P < 0.001). Analysis of receiver operating characteristics curve revealed that both of RTL and LINE-1 methylation percentage have the ability to serve as autism biomarkers (area under the curve = 0.817 and 0.889, respectively). The statistical analysis revealed positive correlation between the two biomarkers (correlation coefficient = 0.439 and P < 0.001).
自闭症与基因组不稳定性有关，而后者受端粒长度（TL）和全球甲基化指数（LINE-1）的调控。本研究将确定 69 名患者和 33 名对照的相对 TL（RTL）和 LINE-1 甲基化百分比，以评估它们作为自闭症生物标志物的潜在作用。结果显示，自闭症病例的 RTL 和 LINE-1 甲基化均显著低于对照组（P < 0.001）。接收者操作特征曲线分析表明，RTL 和 LINE-1 甲基化百分比均具有作为自闭症生物标志物的能力（曲线下面积分别为 0.817 和 0.889）。统计分析显示，这两个生物标志物之间存在正相关关系（相关系数为 0.439，P < 0.001）。
