表观遗传通过DNA甲基化、组蛋白修饰、染色质重塑、以及microRNA等调控方式来实现对基因表达、DNA复制和基因组稳定性的控制。DNA甲基化是目前研究的最为广泛的表观遗传修饰方式之一,可调控真核生物的基因表达。DNA甲基化在哺乳动物发育、肿瘤发生发展及人类其他疾病中均发挥着至关重要的作用。DNA甲基化状态的改变已被视为人类肿瘤细胞的生物标志之一。EMs虽是一种良性妇科疾病,但伴有细胞增殖、侵袭性及远处种植转移等肿瘤的特点。最新研究发现,DNA甲基化可能与子宫内膜异位症(EMs)的发生存在密切的关系并认为EMs从根本上是一种表观遗传学疾病。由于表观遗传修饰都是可逆的过程,这就为EMs的治疗提供了一种新的途径。本文就DNA甲基化在EMs中的发生发展中的作用及其调控的分子机制,以及在诊断治疗中作用的最新研究进展做一综述。 Epigenetics controls gene expression, DNA replication, and genome stability through DNA methylation, histone modifications, chromatin remodeling, and regulation of microRNAs. DNA methylation is one of the most extensive epigenetic modifications studied so far and can regulate the gene expression of eukaryotes. DNA methylation plays a crucial role in mammalian development, tumorigenesis and other human diseases. Altered DNA methylation status has been considered as one of the biomarkers of human tumor cells. Although EMs is a benign gynecological disease, but accompanied by cell proliferation, invasive and distant metastasis and other tumor characteristics. The latest study found that DNA methylation may be closely related to the occurrence of endometriosis (EMs) and that EMs is fundamentally an epigenetic disease. Epigenetic modification is a reversible process, which provides a new way for the treatment of EMs. This review summarizes the role of DNA methylation in the development and progression of EMs, the molecular mechanisms involved in its regulation, and the recent advances in the role of DNA methylation in the diagnosis and treatment of EMs.