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自闭症谱系障碍的表观遗传学:一个多层次的分析,结合了使用公共数据集的表观遗传偏移,年龄加速,表观遗传偏移和罕见的表观变异
Davide Gentilini1,2, Rebecca Cavagnola1, Irene Possenti3
1Department of Brain and Behavioral Sciences, University of Pavia, Pavia, 27100, Italy
Current neuropharmacology
|July 25, 2023
概括
自闭症谱系障碍 (ASD) 在血液中显示出明显的表观遗传特征,而不是脑组织. 增强的表观遗传漂移表明早期发育的改变,提供潜在的诊断工具.
科学领域:
- 遗传学和表观遗传学的研究.
- 神经发育障碍 神经发育障碍
背景情况:
- 自闭症谱系障碍 (ASD) 的表观遗传学仍未得到充分研究.
- 以前的研究主要使用病例控制分类.
研究的目的:
- 采用多层次的表观遗传分析,结合表观遗传漂移和年龄加速.
- 用公开可用的数据集调查ASD的表观遗传变异.
主要方法:
- 在血液和大脑组织中分析了ASD病例和对照病例之间的差异甲基化概况.
- 评估了年龄加速,表观遗传漂移和罕见的表观遗传变异.
- 用于差异化甲基化概况的元分析.
主要成果:
- 在血液中发现了ASD显著的表观遗传特征,但在脑组织中没有.
- 与对照组相比,在ASD中观察到显著更高的表观遗传漂移,没有显著的年龄加速.
- 在41个基因中发现了罕见的表观遗传变异,许多基因以前与ASD无关,参与了关键的发育途径.
结论:
- 基于血液的表观遗传特征显示出ASD诊断和预后的潜力.
- 增强的表观遗传漂移,特别是在大脑组织中,表明胎儿发育期间早期出现的表观遗传变化.
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