Alarcón-Riquelme Marta E
Department of Genetics and Pathology, Rudbeck Laboratory, Uppsala University, Dag Hammarskjölds väg 20, 751 85, Uppsala, Sweden.
Springer Semin Immunopathol. 2006 Oct;28(2):109-17. doi: 10.1007/s00281-006-0033-4. Epub 2006 Sep 9.
The identification of genes for autoimmune diseases is just the first step towards our understanding of disease pathogenesis. In investigating how mutations, deletions or other types of polymorphic defects occur, it is important to determine the pathways and the mechanisms through which susceptibility leads to disease. In this review I touch on three examples of studies that have attempted to understand the mechanisms of genetic susceptibility in three genes identified recently for systemic lupus erythematosus: PDCD1, PTPN22 and IRF5. We are just beginning to comprehend and much needs to be done.
确定自身免疫性疾病的相关基因只是我们理解疾病发病机制的第一步。在研究突变、缺失或其他类型的多态性缺陷是如何发生时，确定易感性导致疾病的途径和机制很重要。在这篇综述中，我将探讨三项研究的例子，这些研究试图了解最近确定的与系统性红斑狼疮相关的三个基因（PDCD1、PTPN22和IRF5）中的遗传易感性机制。我们才刚刚开始理解，还有很多工作要做。
