Future Prospects for Epigenetics in Autism Spectrum Disorder.
Future Prospects for Epigenetics in Autism Spectrum Disorder.
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DOI：
10.1007/s40291-022-00608-z
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发表时间：
2022-11
影响因子：
4
通讯作者：
LaSalle, Janine M.
中科院分区：
文献类型：
--
作者：
Williams, Logan A.;LaSalle, Janine M.
尽管对自闭症谱系障碍（ASD）的遗传学进行了数十年的研究，但目前该领域的共识是，ASD的风险异质性太大，无法通过一组遗传变异来诊断。因此，自闭症谱系障碍的研究已经扩大到包括评估其他可能反映环境暴露或基因与环境相互作用的分子生物标志物。表观遗传变异，特别是差异DNA甲基化，已经成为ASD特别感兴趣的领域，因为来自特定染色质位点的表观遗传标记可以共同反映多种遗传和环境因素的影响，也可以导致差异基因表达模式。本文回顾了最近对ASD表观基因组的研究，详细介绍了在ASD患者中发现的差异甲基化的常见基因通路，并考虑了这些发现如何有助于我们对ASD病因学的理解。我们还考虑了表观遗传学在ASD研究和临床实践中的未来应用，重点关注下层分层、生物标志物开发和测试ASD因果关系的实验性临床前模型。与其他组学方法相结合，表观基因组学允许对ASD的多因素特性进行改进的概念化，并为基础研究和临床实践开辟了未来的探索路线。
Despite decades of investigation into the genetics of autism spectrum disorder (ASD), a current consensus in the field persists that ASD risk is too heterogeneous to be diagnosed by a single set of genetic variants. As such, ASD research has broadened to include assessment of other molecular biomarkers implicated in the condition that may be reflective of environmental exposures or gene by environment interactions. Epigenetic variance, and specifically differential DNA methylation, have emerged as areas of particularly high interest to ASD, as the epigenetic markers from specific chromatin loci collectively can reflect influences of multiple genetic and environmental factors and can also result in differential gene expression patterns. This review examines recent studies of the ASD epigenome, detailing common gene pathways found to be differentially methylated in people with ASD, and considers how these discoveries may inform our understanding of ASD etiology. We also consider future applications of epigenetics in ASD research and clinical practice, focusing on substratification, biomarker development, and experimental preclinical models of ASD that test causality. In combination with other -omics approaches, epigenomics allows an improved conceptualization of the multifactorial nature of ASD, and opens future lines of inquiry for both basic research and clinical practice.
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影响因子：
4.4
作者：
Bibikova, Marina;Barnes, Bret;Shen, Richard
通讯作者：
Shen, Richard
血液DNA甲基化和自闭症谱系障碍的病例对照荟萃分析。
影响因子：
6.2
作者：
Andrews SV;Sheppard B;Windham GC;Schieve LA;Schendel DE;Croen LA;Chopra P;Alisch RS;Newschaffer CJ;Warren ST;Feinberg AP;Fallin MD;Ladd-Acosta C
通讯作者：
Ladd-Acosta C
影响因子：
2.6
作者：
Blanc R;Latinus M;Guidotti M;Adrien JL;Roux S;Dansart P;Barthélémy C;Rambault A;Bonnet-Brilhault F;Malvy J
通讯作者：
Malvy J
在电荷研究中，环境暴露于农药，邻苯二甲酸盐，苯酚和微量元素与神经发育有关。
影响因子：
11.8
作者：
Bennett, Deborah H.;Busgang, Stefanie A.;Kannan, Kurunthachalam;Parsons, Patrick J.;Takazawa, Mari;Palmer, Christopher D.;Schmidt, Rebecca J.;Doucette, John T.;Schweitzer, Julie B.;Gennings, Chris;Hertz-Picciotto, Irva
通讯作者：
Hertz-Picciotto, Irva
影响因子：
--
作者：
Bey, Alexandra L;Jiang, Yong-Hui
通讯作者：
Jiang, Yong-Hui