Endometriosis(EMs), an estrogen-dependent inflammatory disease, is still unclear in pathogenesis. More and more evidence proved that epigenetic characteristics of several genes were associated with EMs. Epigenetics is referred to the heritable genetic changes such as DNA methylation, histone covalent modification and chromatin conformation changes, which do not change DNA sequence. Epigenetic abnormality may trigger a series of pathological disorders including tumors. Hypomethylation of CpG islands in aromatase gene and (or) trans-acting factor genes up-regulated the expression of aromatase mRNA in the ectopic tissues. Low expression of ERα and significantly high expression of ERβ were found in the ovarian ectopic epithelial and stromal cells, while high expressions of both PRα and PRβ in the eutopic cells. The promoter of steroidgenic factor-1 (SF-1) was hypomethylation in ectopic cells, while it was hypermethylation in eutopic cells. In addition, the decreased expressions of both E-cadherin gene in ectopic tissues and homeobox A10 gene in eutopic tissues were also related to EMs. Environmental factors may be involved in EMs by epigenetic mechanism. This review summarized the roles of epigenetics and environmental factors in the pathogenesis of EMs.%子宫内膜异位症（EMs）是一种雌激素依赖的炎性疾病，发病机制尚不清楚。越来越多的证据表明，一些基因的表观遗传学特性与EMs的发病有关。表观遗传学是指DNA序列不发生变化，但基因表达却发生了可遗传的改变，包括DNA甲基化、组蛋白共价修饰及染色质构象变化，这些改变可能会引发一系列包括肿瘤在内的病理变化。 EMs异位组织中芳香化酶基因的CpG岛序列低甲基化和（或）反式作用因子上调芳香化酶基因的表达；卵巢异位上皮及间质细胞的雌激素受体α（ERα）低表达而ERβ显著高表达；在位细胞的孕激素受体α（PRα）和PRβ均高表达；EMs异位内膜细胞的类固醇生成因子1（SF-1）启动子低甲基化而在位内膜高甲基化。此外，EMs异位组织E-钙黏蛋白（E-cadherin）基因及在位组织同源框基因A10（HOXA10）表达降低也与EMs有关；环境因素可能会影响表观遗传基因导致EMs的发生。综述表观遗传学改变和环境因素在EMs发病中的作用。
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