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Immunogenetics in Systemic Lupus Erythematosus: Transitioning from Genetic Associations to Cellular Effects.
Scandinavian Journal of Immunology ( IF 3.7 ) Pub Date : 2020-05-19 , DOI: 10.1111/sji.12894
Niklas Hagberg 1 , Christian Lundtoft 1 , Lars Rönnblom 1
Affiliation  

Systemic lupus erythematosus (SLE) is a heterogeneous rheumatic autoimmune disease. Genetic studies have identified up to 100 SLE risk loci. Many of these encode proteins of importance in the immune system, but the cellular and molecular mechanisms underlying these associations are still elusive. In this review, we will highlight some of the SLE risk loci where mechanistic insights have been achieved recently by linking genetic risk polymorphisms to cellular or molecular phenotypes important for the disease process.

中文翻译:

系统性红斑狼疮的免疫遗传学:从遗传协会到细胞效应的过渡。

系统性红斑狼疮(SLE)是一种异质性风湿性自身免疫性疾病。遗传研究已鉴定出多达100个SLE风险基因座。这些中的许多编码在免疫系统中重要的蛋白质,但是这些关联基础的细胞和分子机制仍然难以捉摸。在这篇综述中,我们将重点介绍一些SLE风险基因座,这些地方最近通过将遗传风险多态性与对疾病过程重要的细胞或分子表型相关联而获得了机械学见解。
更新日期:2020-05-19
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