Xu Zhiwei, Morel Laurence
Department of Pathology, Immunology, and Laboratory Medicine, University of Florida, Gainesville, Florida 32610, USA.
Discov Med. 2010 Jul;10(50):71-8.
The past two years have brought great progress in the genetics of systemic lupus erythematosus (SLE) heralded by the publication of genome-wide association studies in humans and the identification of susceptibility genes in mouse models of spontaneous lupus. This influx of new information has revealed an ever-increasing interdependence between the mouse and human systems for unraveling the genetic basis of lupus susceptibility. SLE is a complex disease in which defects in several functional pathways have been identified. Genetic variants in a number of genes in these pathways have now been directly associated with lupus in both species. These discoveries have lead to a better understanding of the mechanisms of disease, and offer potential novel target for therapeutic intervention. As a large number of susceptibility genes are identified, lupus genetics will focus on mechanistic and molecular studies, in which mouse models will continue to serve a pre-eminent role.
过去两年里，随着人类全基因组关联研究的发表以及在自发性狼疮小鼠模型中鉴定出易感基因，系统性红斑狼疮（SLE）遗传学取得了巨大进展。这些新信息的涌入揭示了在揭示狼疮易感性遗传基础方面，小鼠和人类系统之间日益增强的相互依存关系。SLE是一种复杂疾病，已确定其在多个功能途径中存在缺陷。这些途径中许多基因的遗传变异现已在两个物种中都与狼疮直接相关。这些发现有助于更好地理解疾病机制，并为治疗干预提供潜在的新靶点。随着大量易感基因的确定，狼疮遗传学将专注于机制和分子研究，在这些研究中，小鼠模型将继续发挥卓越作用。
