The Role of Epigenetic Change in Autism Spectrum Disorders.
The Role of Epigenetic Change in Autism Spectrum Disorders.
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DOI：
10.3389/fneur.2015.00107
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发表时间：
2015
影响因子：
3.4
通讯作者：
Craig JM
中科院分区：
文献类型：
--
作者：
Loke YJ;Hannan AJ;Craig JM
自闭症谱系障碍（ASD）是一种异质性的神经发育障碍，其特征是社会沟通、社会互动和重复性或限制性行为方面的问题。ASD与其他疾病共病，包括注意缺陷多动障碍、癫痫、Rett综合征和脆性X综合征。无论是遗传因素还是环境因素都没有很好地表征，以帮助诊断或治疗非综合征性ASD。然而，全基因组关联研究积累的证据表明，涉及数百个基因和各种相关的遗传途径。最近，研究人员转向表观遗传学，这是环境对基因组和表型影响的主要媒介，以表征构成DNA序列之上的分子水平的ASD变化。虽然这些研究还处于起步阶段，但这些研究有可能增加我们对ASD病因的了解，并可能有助于开发用于其预测、诊断、预后以及最终预防和干预的生物标志物。本文综述了ASD的前几项全表观基因组关联研究，并讨论了未来的研究方向。
Autism spectrum disorders (ASD) are a heterogeneous group of neurodevelopmental disorders characterized by problems with social communication, social interaction, and repetitive or restricted behaviors. ASD are comorbid with other disorders including attention deficit hyperactivity disorder, epilepsy, Rett syndrome, and Fragile X syndrome. Neither the genetic nor the environmental components have been characterized well enough to aid diagnosis or treatment of non-syndromic ASD. However, genome-wide association studies have amassed evidence suggesting involvement of hundreds of genes and a variety of associated genetic pathways. Recently, investigators have turned to epigenetics, a prime mediator of environmental effects on genomes and phenotype, to characterize changes in ASD that constitute a molecular level on top of DNA sequence. Though in their infancy, such studies have the potential to increase our understanding of the etiology of ASD and may assist in the development of biomarkers for its prediction, diagnosis, prognosis, and eventually in its prevention and intervention. This review focuses on the first few epigenome-wide association studies of ASD and discusses future directions.
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