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对自闭症谱系障碍的整体关联研究
Wenjie Sun1, Jeremie Poschmann1, Ricardo Cruz-Herrera Del Rosario2
1Computational and Systems Biology, Genome Institute of Singapore, Singapore 138672, Singapore.
Cell
|November 19, 2016
概括
自闭症谱系障碍 (ASD) 在不同病例中表现出一种常见的基因组乙化特征,显示出共同的表观遗传变化. 这项基因组乙组广泛关联研究 (HAWAS) 确定了ASD的潜在治疗点.
科学领域:
- 神经科学
- 遗传学
- 表观遗传学
背景情况:
- 自闭症谱系障碍 (ASD) 的病因复杂且异质.
- 缺乏对ASD中的基因组修饰变化的系统检查.
研究的目的:
- 研究基因组修饰与自闭症之间的关联.
- 在死后的大脑样本中进行基因组乙烯基体广泛关联研究 (HAWAS).
主要方法:
- 在ASD和对照个体的257个死后脑样本上进行了H3K27ac染色体免疫沉测序 (ChIP-seq).
- 分析了全乙烯基体关联数据以确定常见的特征和表皮.
- 与基因型相关联的基因组乙化以发现基因组乙化定量特征位点 (haQTL).
主要成果:
- 在≥68%的自闭症病例中,在前额外皮层和皮层中发现了一个常见的乙瘤特征.
- 观察到与ASD罕见遗传突变相关的基因常见表皮突变.
- 突出的基因涉及突触传播,离子传输,和免疫.
- 发现了超过2,000个haQTL,其中包括四种精神疾病的候选因果变体.
- 排除了cis-SNPs的遗传差异化作为观察到的乙瘤异常的原因.
结论:
- 在基因组乙化中,自闭症表现出共同的表观遗传异常,不论病因异质性如何.
- 由于基因组修饰的稳定性,HAWAS方法对理解ASD病理生理学和潜在的其他疾病有价值.
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