CM-200819-4097863 Exploring genome-wide DNA methylation patterns in Aicardi syndrome
CM-200819-4097863 Exploring genome-wide DNA methylation patterns in Aicardi syndrome
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DOI：
10.2217/epi-2017-0060
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发表时间：
2017-11-01
期刊：
影响因子：
3.8
通讯作者：
Schrauwen, Isabelle
中科院分区：
文献类型：
--
作者：
Piras, Ignazio S.;Mills, Gabrielle;Schrauwen, Isabelle
目的探讨AIC（一种病因不明的严重神经发育障碍）中DNA甲基化差异。患者和方法：我们使用Illumina 450 K阵列表征AIC女性患者和父母中的DNAm。使用局部离群因子算法评估差异DNAm，并在较大的AIC女性患者、父母和无关的年轻女性对照组中通过qPCR验证结果。功能表观遗传模块分析用于检测整合全基因组DNAm和RNA-seq数据的途径。结果与结论：我们检测到AIC患者在几个神经发育和/或神经免疫网络的差异甲基化模式。这些网络可能是参与疾病的潜在致病机制的一部分。
To explore differential DNA methylation (DNAm) in Aicardi syndrome (AIC), a severe neurodevelopmental disorder with largely unknown etiology. Patients & methods: We characterized DNAm in AIC female patients and parents using the Illumina 450 K array. Differential DNAm was assessed using the local outlier factor algorithm, and results were validated via qPCR in a larger set of AIC female patients, parents and unrelated young female controls. Functional epigenetic modules analysis was used to detect pathways integrating both genome-wide DNAm and RNA-seq data. Results & conclusion: We detected differential methylation patterns in AIC patients in several neurodevelopmental and/or neuroimmunological networks. These networks may be part of the underlying pathogenic mechanisms involved in the disease.