系统性红斑狼疮的基因组学和表观遗传学

Genomics and Epigenomics in Systemic Lupus Erythematosus

系统性红斑狼疮（systemic lupus erythematosus，SLE）是一种以自身抗体产生和免疫复合物形成为特点的自身免疫性疾病。类似许多其他自身免疫性疾病，系统性红斑狼疮的致病源可以追溯到遗传易感性和某些环境诱发的表观遗传修饰异常。遗传因素在SLE的发病机理已被广泛研究，目前有超过30个SLE易感基因被报道。此外，环境因素通过修改表观遗传标记影响疾病的发生发展的机制也越来越清晰。文章综述了该领域的研究进展，以期更好地理解系统性红斑狼疮发病机理，并对其诊断、治疗和预防提供基础性资料。

Systemic lupus erythematosus by the production of autoantibodies directed （SLE） is a systemic autoimmune disease characterized against nuclear self-antigens and circulating immune complexes. Like many other autoimmune diseases, the pathogenic origin of SLE can be traced to both genetic susceptibility and epigenetic modifications arising from exposure to the environment. The role of genetic variation has been extensively investigated in SLE, and the number of confirmed genes predisposing to SLE has catapulted to approximately 30. In addition, it is becoming increas- ingly clear that environmental factors can modify epigenetic marks, influencing disease onset and progression. In this article, we review the current advances in this field in an attempt to better un- derstand the pathogenesis of SLE, and improve its diagnosis, prognosis, and treatment.