Advances in lupus genetics.
Advances in lupus genetics.
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DOI：
10.1097/bor.0000000000000205
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发表时间：
2015-09
影响因子：
5.1
通讯作者：
Niewold TB
中科院分区：
文献类型：
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作者：
Niewold TB
系统性红斑狼疮（SLE）遗传学研究近年来进展迅速。本次审查将总结最近的进展。全基因组关联和后续研究已经极大地扩展了相关多态性的列表，并且目前的许多工作都致力于将这些多态性整合到免疫系统生物学和参与疾病的致病介质中。这篇综述涵盖了一些当前感兴趣的领域，包括非欧洲SLE患者人群的遗传学研究，致病性免疫系统亚表型，如I型干扰素（IFN）和自身抗体的研究，以及一个快速增长的机构的工作调查与SLE相关的遗传多态性的功能后果。这些研究为人类SLE疾病生物学提供了一个迷人的窗口。随着工作从遗传关联信号到改变人类生物学的进展，我们更接近于根据个体的遗传基质定制干预措施。
The field of systemic lupus erythematosus (SLE) genetics has been advancing rapidly in recent years. This review will summarize recent progress. Genome-wide association and follow up studies have greatly expanded the list of associated polymorphisms, and much current work strives to integrate these polymorphisms into immune system biology and the pathogenic mediators involved in the disease. This review covers some current areas of interest, including genetic studies in non-European SLE patient populations, studies of pathogenic immune system subphenotypes such as type I interferon (IFN) and autoantibodies, and a rapidly growing body of work investigating the functional consequences of the genetic polymorphisms associated with SLE. These studies provide a fascinating window into human SLE disease biology. As the work proceeds from genetic association signal to altered human biology, we move closer to tailoring interventions based upon an individual’s genetic substrate.