Relle Manfred, Schwarting Andreas
First Department of Medicine, University Medical Center of Johannes Gutenberg University of Mainz, 55131 Mainz, Germany.
Clin Dev Immunol. 2012;2012:584374. doi: 10.1155/2012/584374. Epub 2012 Jun 19.
Systemic lupus erythematosus (SLE) is a chronic autoimmune disease characterized by the production of autoantibodies against nuclear antigens and a systemic inflammation that can damage a broad spectrum of organs. SLE patients suffer from a wide variety of symptoms, which can affect virtually almost any tissue. As lupus is difficult to diagnose, the worldwide prevalence of SLE can only be roughly estimated to range from 10 and 200 cases per 100,000 individuals with dramatic differences depending on gender, ethnicity, and location. Although the treatment of this disease has been significantly ameliorated by new therapies, improved conventional drug therapy options, and a trained expert eye, the underlying pathogenesis of lupus still remain widely unknown. The complex etiology reflects the complex genetic background of the disease, which is also not well understood yet. However, in the past few years advances in lupus genetics have been made, notably with the publication of genome-wide association studies (GWAS) in humans and the identification of susceptibility genes and loci in mice. This paper reviews the role of MHC-linked susceptibility genes in the pathogenesis of systemic lupus erythematosus.
系统性红斑狼疮（SLE）是一种慢性自身免疫性疾病，其特征是产生针对核抗原的自身抗体以及可损害多种器官的全身性炎症。SLE患者会出现各种各样的症状，几乎可影响任何组织。由于狼疮难以诊断，全球SLE的患病率只能大致估计为每10万人中有10至200例，且因性别、种族和地理位置的不同而存在显著差异。尽管新疗法、改良的传统药物治疗方案以及专业医生的诊断使这种疾病的治疗有了显著改善，但狼疮的潜在发病机制仍大多未知。复杂的病因反映了该疾病复杂的遗传背景，目前对此也尚未完全了解。然而，在过去几年里，狼疮遗传学取得了进展，尤其是人类全基因组关联研究（GWAS）的发表以及小鼠中易感基因和基因座的鉴定。本文综述了MHC连锁易感基因在系统性红斑狼疮发病机制中的作用。
