Rheumatology and Science for Life Laboratories, Department of Medical Sciences, Uppsala University, Uppsala, Sweden.
Scand J Immunol. 2020 Oct;92(4):e12894. doi: 10.1111/sji.12894.
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.
系统性红斑狼疮（SLE）是一种异质性的风湿性自身免疫性疾病。遗传研究已经确定了多达 100 个 SLE 风险位点。其中许多基因编码的蛋白在免疫系统中具有重要作用，但这些关联背后的细胞和分子机制仍难以捉摸。在这篇综述中，我们将重点介绍一些 SLE 风险位点，这些位点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联系起来，在机制上取得了一些进展。
