Autoimmune diseases are immune system disorders in which immune cells cannot distinguish self-antigens from foreign ones. The current criteria for autoimmune disease diagnosis are based on clinical manifestations and laboratory tests. However, none of these markers shows both high sensitivity and specificity. In addition, some autoimmune diseases, for example, systemic lupus erythematosus (SLE), are highly heterogeneous and often exhibit various manifestations. On the other hand, certain autoimmune diseases, such as Sjogren's syndrome versus SLE, share similar symptoms and autoantibodies, which also causes difficulties in diagnosis. Therefore, biomarkers that have both high sensitivity and high specificity for diagnosis, reflect disease activity and predict drug response are necessary. An increasing number of publications have proposed the abnormal epigenetic modifications as biomarkers of autoimmune diseases. Therefore, this review will comprehensively summarize the epigenetic progress in the pathogenesis of autoimmune disorders and unearth potential biomarkers that might be appropriate for disease diagnosis and prediction.

自身免疫性疾病是免疫系统疾病，其中免疫细胞无法区分自身抗原与外源抗原。自身免疫性疾病诊断的当前标准基于临床表现和实验室测试。但是，这些标志物均未显示高灵敏度和特异性。此外，一些自身免疫性疾病，例如系统性红斑狼疮（SLE），高度异质性，经常表现出各种表现。另一方面，某些自身免疫性疾病，例如干燥综合征（Sjogren's syndrome）与SLE，具有相似的症状和自身抗体，这也给诊断带来了困难。因此，对于诊断具有高敏感性和高特异性，反映疾病活性并预测药物反应的生物标志物是必要的。越来越多的出版物提出异常表观遗传修饰作为自身免疫性疾病的生物标记。因此，本综述将全面总结自身免疫性疾病发病机理中的表观遗传学进展以及可能适用于疾病诊断和预测的潜在生物标志物的发现。