Cazaly Emma, Charlesworth Jac, Dickinson Joanne L, Holloway Adele F
Menzies Institute for Medical Research, University of Tasmania, Hobart, Tasmania, Australia.
School of Medicine, University of Tasmania, Hobart, Tasmania, Australia.
Mol Med. 2015 Mar 26;21(1):400-9. doi: 10.2119/molmed.2015.00001.
The field of epigenetics and our understanding of the mechanisms that regulate the establishment, maintenance and heritability of epigenetic patterns continue to grow at a remarkable rate. This information is providing increased understanding of the role of epigenetic changes in disease, insight into the underlying causes of these epigenetic changes and revealing new avenues for therapeutic intervention. Epigenetic modifiers are increasingly being pursued as therapeutic targets in a range of diseases, with a number of agents targeting epigenetic modifications already proving effective in diseases such as cancer. Although it is well established that DNA mutations and aberrant expression of epigenetic modifiers play a key role in disease, attention is now turning to the interplay between genetic and epigenetic factors in complex disease etiology. The role of genetic variability in determining epigenetic profiles, which can then be modified by environmental and stochastic factors, is becoming more apparent. Understanding the interplay between genetic and epigenetic factors is likely to aid in identifying individuals most likely to benefit from epigenetic therapies. This goal is coming closer to realization because of continual advances in laboratory and statistical tools enabling improvements in the integration of genomic, epigenomic and phenotypic data.
表观遗传学领域以及我们对调控表观遗传模式的建立、维持和遗传性机制的理解，正继续以惊人的速度发展。这些信息使我们对表观遗传变化在疾病中的作用有了更多了解，深入洞察了这些表观遗传变化的潜在原因，并揭示了治疗干预的新途径。表观遗传修饰剂正越来越多地被作为多种疾病的治疗靶点进行研究，一些针对表观遗传修饰的药物已在癌症等疾病中证明有效。虽然DNA突变和表观遗传修饰剂的异常表达在疾病中起关键作用已得到充分证实，但现在人们的注意力正转向复杂疾病病因中遗传和表观遗传因素之间的相互作用。遗传变异性在决定表观遗传谱方面的作用正变得更加明显，而后表观遗传谱可被环境和随机因素所改变。理解遗传和表观遗传因素之间的相互作用可能有助于识别最有可能从表观遗传疗法中获益的个体。由于实验室和统计工具的不断进步，能够改进基因组、表观基因组和表型数据的整合，这一目标正越来越接近实现。
