Laboratory of Molecular Immunology, National Heart, Lung, and Blood Institute, NIH, Bethesda, MD, USA.
Circ Res. 2010 Aug 6;107(3):327-39. doi: 10.1161/CIRCRESAHA.110.222463.
Epigenomes are comprised, in part, of all genome-wide chromatin modifications, including DNA methylation and histone modifications. Unlike the genome, epigenomes are dynamic during development and differentiation to establish and maintain cell type-specific gene expression states that underlie cellular identity and function. Chromatin modifications are particularly labile, providing a mechanism for organisms to respond and adapt to environmental cues. Results from studies in animal models clearly demonstrate that epigenomic variability leads to phenotypic variability, including susceptibility to disease that is not recognized at the DNA sequence level. Thus, capturing epigenomic information is invaluable for comprehensively understanding development, differentiation, and disease. Herein, we provide a brief overview of epigenetic processes, how they are relevant to human health, and review studies using technologies that enable epigenome mapping. We conclude by describing feasible applications of epigenome mapping, focusing on epigenome-wide association studies (eGWAS), which have the potential to revolutionize current studies of human diseases and will likely promote the discovery of novel diagnostic, preventative, and treatment strategies.
表观基因组部分由全基因组染色质修饰组成，包括 DNA 甲基化和组蛋白修饰。与基因组不同，表观基因组在发育和分化过程中是动态的，以建立和维持细胞类型特异性的基因表达状态，从而为细胞身份和功能提供基础。染色质修饰特别不稳定，为生物体提供了一种响应和适应环境线索的机制。动物模型研究的结果清楚地表明，表观基因组的可变性导致表型的可变性，包括对疾病的易感性，而这种易感性在 DNA 序列水平上无法识别。因此，获取表观基因组信息对于全面了解发育、分化和疾病是非常宝贵的。本文简要概述了表观遗传过程，以及它们与人类健康的相关性，并回顾了使用能够进行表观基因组图谱绘制的技术的研究。最后，我们描述了表观基因组图谱绘制的可行应用，重点是全基因组关联研究（eGWAS），它有可能彻底改变人类疾病的当前研究，并可能促进新的诊断、预防和治疗策略的发现。
