van Vliet J, Oates N A, Whitelaw E
Division of Population Studies and Human Genetics, Queensland Institute of Medical Research, Herston, QLD, Australia.
Cell Mol Life Sci. 2007 Jun;64(12):1531-8. doi: 10.1007/s00018-007-6526-z.
Complex diseases arise from a combination of heritable and environmental factors. The contribution made by environmental factors may be mediated through epigenetics. Epigenetics is the study of changes in gene expression that occur without a change in DNA sequence and are meiotically or mitotically heritable. Such changes in gene expression are achieved through the methylation of DNA, the post-translational modifications of histone proteins, and RNA-based silencing. Epigenetics has been implicated in complex diseases such as cancer, schizophrenia, bipolar disorder, autism and systemic lupus erythematosus. The prevalence and severity of these diseases may be influenced by factors that affect the epigenotype, such as ageing, folate status, in vitro fertilization and our ancestors' lifestyles. Although our understanding of the role played by epigenetics in complex diseases remains in its infancy, it has already led to the development of novel diagnostic methods and treatments, which augurs well for its future health benefits.
复杂疾病由遗传因素和环境因素共同引起。环境因素的作用可能通过表观遗传学介导。表观遗传学是研究基因表达变化的学科,这种变化在DNA序列不变的情况下发生,并且可通过减数分裂或有丝分裂遗传。基因表达的这种变化是通过DNA甲基化、组蛋白的翻译后修饰以及基于RNA的沉默实现的。表观遗传学与癌症、精神分裂症、双相情感障碍、自闭症和系统性红斑狼疮等复杂疾病有关。这些疾病的患病率和严重程度可能受到影响表观基因型的因素的影响,如衰老、叶酸状态、体外受精和我们祖先的生活方式。尽管我们对表观遗传学在复杂疾病中所起作用的理解仍处于起步阶段,但它已经促成了新型诊断方法和治疗方法的发展,这预示着它未来将给健康带来诸多益处。