Genetics of human lupus nephritis.
Genetics of human lupus nephritis.
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DOI：
10.1016/j.clim.2016.09.012
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发表时间：
2017-12
期刊：
影响因子：
--
通讯作者：
Niewold TB
中科院分区：
文献类型：
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作者：
Iwamoto T;Niewold TB
系统性红斑狼疮（SLE）是一种以免疫复合物形成为特征的炎症性自身免疫性疾病。狼疮性肾炎（LN）是SLE中最严重的器官损害类型之一，并且它明显导致SLE的发病率和死亡率增加。LN发生更频繁，是更严重的非欧洲祖先的背景，虽然这种差异的原因仍然在很大程度上未知。遗传因素在SLE的发病中起重要作用。虽然许多SLE易感基因已被确定，LN的遗传基础还不清楚。虽然一些已确定的一般SLE易感基因与LN相关，但最近的发现突出了一些与LN特异性相关的肾功能基因。其中一些与LN相关的基因有助于解释SLE患者之间肾炎患病率的差异，也部分解释了祖先背景之间LN的差异。此外，不仅基因突变，而且翻译后修饰似乎在LN的发病中起重要作用。总的来说，似乎是一般SLE易感基因与LN特异性风险基因的结合导致了LN的遗传倾向。在这篇综述中，我们将概述LN的遗传贡献，并描述LN易感基因的可能作用。
Systemic lupus erythematosus (SLE) is an inflammatory autoimmune disease characterized by immune complex formation with multi-organ manifestations. Lupus nephritis (LN) is one of the most severe types of organ damage in SLE, and it clearly contributes to increased morbidity and mortality due to SLE. LN occurs more frequently and is more severe in non-European ancestral backgrounds, although the cause of this disparity remains largely unknown. Genetic factors play an important role in the pathogenesis of SLE. Although many SLE susceptibility genes have been identified, the genetic basis of LN is not as well understood. While some of the established general SLE susceptibility genes are associated with LN, recent discoveries highlight a number of genes with renal functions that are specifically associated with LN. Some of these genes associated with LN help to explain the disparity in the prevalence of nephritis between individuals with SLE, and also partially explain differences in LN between ancestral backgrounds. Moreover, not only the gene mutations, but also post-translational modifications seem to play important roles in the pathogenesis of LN. Overall it seems likely that a combination of general SLE susceptibility genes cooperate with LN specific risk genes to result in the genetic propensity for LN. In this review, we will outline the genetic contribution to LN and describe possible roles of LN susceptibility genes.