Center for Epigenetics and Department of Medicine, Johns Hopkins University School of Medicine, 855 N. Wolfe St., Rangos 570, Baltimore, MD 21205, USA.
Virchows Arch. 2010 Jan;456(1):13-21. doi: 10.1007/s00428-009-0847-2. Epub 2009 Oct 21.
Traditionally, the pathology of human disease has been focused on microscopic examination of affected tissues, chemical and biochemical analysis of biopsy samples, other available samples of convenience, such as blood, and noninvasive or invasive imaging of varying complexity, in order to classify disease and illuminate its mechanistic basis. The molecular age has complemented this armamentarium with gene expression arrays and selective analysis of individual genes. However, we are entering a new era of epigenomic profiling, i.e., genome-scale analysis of cell-heritable nonsequence genetic change, such as DNA methylation. The epigenome offers access to stable measurements of cellular state and to biobanked material for large-scale epidemiological studies. Some of these genome-scale technologies are beginning to be applied to create the new field of epigenetic epidemiology.
传统上，人类疾病的病理学一直侧重于对受影响组织的显微镜检查、活检样本的化学和生化分析、其他方便的样本，如血液，以及不同复杂程度的非侵入性或侵入性成像，以对疾病进行分类并阐明其机制基础。分子时代通过基因表达阵列和对个别基因的选择性分析来补充这一手段。然而，我们正在进入一个新的表观基因组分析时代，即对细胞可遗传的非序列遗传变化（如 DNA 甲基化）进行全基因组分析。表观基因组可以提供对细胞状态的稳定测量，以及对生物样本库进行大规模流行病学研究。其中一些全基因组技术开始被应用于创建新的表观遗传流行病学领域。
