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系统性红斑狼疮遗传学研究进展。

Recent advances in the genetics of systemic lupus erythematosus.

机构信息

ITGR Human Genetics, Genentech Research & Early Development, 1 DNA Way, South San Francisco, CA 94080-94990, USA.

出版信息

Expert Rev Clin Immunol. 2010 May;6(3):461-79. doi: 10.1586/eci.10.8.

Abstract

Systemic lupus erythematosus (SLE) is a systemic autoimmune disease characterized by the production of antinuclear autoantibodies and the inflammatory infiltration of many organ systems. SLE is a complex disorder in which multiple genetic variants, together with environmental and hormonal factors, contribute to disease risk. In this article, we summarize our current understanding of the genetic contribution to SLE in light of recent genome-wide association studies, which have brought the total number of confirmed SLE susceptibility loci to 29. In the second section, we explore the functional implications of these risk loci and, in particular, highlight the role that many of these genes play in the Toll-like receptor and type I interferon signaling pathways. Finally, we discuss the genetic overlap between SLE and other autoimmune and inflammatory conditions as several risk loci are shared among multiple disorders, suggesting common underlying pathogenic mechanisms.

摘要

系统性红斑狼疮(SLE)是一种全身性自身免疫性疾病,其特征是产生抗核自身抗体和许多器官系统的炎症浸润。SLE 是一种复杂的疾病,多种遗传变异与环境和激素因素一起导致疾病风险。在本文中,我们根据最近的全基因组关联研究总结了我们对 SLE 遗传贡献的理解,这些研究将已确认的 SLE 易感性位点的总数增加到 29 个。在第二节中,我们探讨了这些风险位点的功能意义,特别是强调了许多这些基因在 Toll 样受体和 I 型干扰素信号通路中的作用。最后,我们讨论了 SLE 与其他自身免疫和炎症性疾病之间的遗传重叠,因为多个疾病之间存在多个风险位点共享,这表明存在共同的潜在发病机制。

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