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系统性红斑狼疮的遗传基础——今日之认识与明日之思考

The genetic basis of systemic lupus erythematosus--knowledge of today and thoughts for tomorrow.

作者信息

Prokunina Ludmila, Alarcon-Riquelme Marta

机构信息

Department of Genetics and Pathology, Section of Medical Genetics, Rudbeck Laboratory, Uppsala University, Dag Hammarskjölds väg 20, 751 85, Uppsala, Sweden.

出版信息

Hum Mol Genet. 2004 Apr 1;13 Spec No 1:R143-8. doi: 10.1093/hmg/ddh076. Epub 2004 Feb 5.

Abstract

Systemic lupus erythematosus (SLE) is a chronic rheumatic disease with an autoimmune etiology. Nuclear components of the cells are the main targets of the autoimmune reaction, affecting virtually any organ in the body. SLE is also called a prototype disease due to a substantial overlap in its clinical symptoms with other autoimmune diseases. Therefore the understanding of the mechanisms underlying SLE may contribute to advances in studies and development of new treatments for several autoimmune diseases. SLE is a complex disease with both genetic factors (mutations or susceptibility alleles) and environmental factors (infections, drugs, stress, exposures, etc.) contributing to its development. In this article we will give an overview of the latest findings in genetics of SLE, concentrating on the two most interesting and promising pathways: the PD-1 and the interferon pathways.

摘要

系统性红斑狼疮(SLE)是一种病因源于自身免疫的慢性风湿性疾病。细胞的核成分是自身免疫反应的主要靶点,几乎会影响身体的任何器官。由于SLE的临床症状与其他自身免疫性疾病有大量重叠,它也被称为原型疾病。因此,了解SLE的潜在机制可能有助于推动多种自身免疫性疾病的研究进展和新疗法的开发。SLE是一种复杂的疾病,遗传因素(突变或易感等位基因)和环境因素(感染、药物、压力、暴露等)都对其发病有影响。在本文中,我们将概述SLE遗传学的最新发现,重点关注两个最有趣且最有前景的途径:PD-1途径和干扰素途径。

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