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系统性红斑狼疮遗传学的最新进展

Recent advances in the genetics of systemic lupus erythematosus.

作者信息

Gaffney Patrick M, Moser Kathy L, Graham Robert R, Behrens Timothy W

机构信息

Division of Hematology, Oncology, and Transplantation, University of Minnesota Medical School, Minneapolis, Minnesota, USA.

出版信息

Rheum Dis Clin North Am. 2002 Feb;28(1):111-26. doi: 10.1016/s0889-857x(03)00072-3.

Abstract

In recent years, we have witnessed an explosion in our understanding of the biology of SLE through the study of lupus-prone mice and the identification and subsequent narrowing of the genomic intervals likely responsible for SLE in human beings. The data from these efforts support the hypothesis that multiple genes contribute to disease susceptibility. Clearly, there is no single locus operating in all families multiplex for SLE, and the degree of ethnic and genetic heterogeneity seems to be quite significant. In this respect, the genetics of SLE resemble those of many other complex genetic diseases. The list of candidate genes and pathways (see Table 1) implicated in the pathogenesis of SLE is expanding at a rapid rate. Understanding how alterations in these genes and pathways lead to the lupus phenotype is the primary objective of future genetic studies in SLE.

摘要

近年来,通过对狼疮易感小鼠的研究以及对人类系统性红斑狼疮(SLE)可能相关的基因组区间的鉴定和后续筛选,我们对SLE生物学的理解有了极大的进展。这些研究成果支持了多基因导致疾病易感性的假说。显然,并非所有SLE多发家系都由单一基因位点起作用,而且种族和遗传异质性程度似乎相当显著。在这方面,SLE的遗传学与许多其他复杂遗传疾病相似。与SLE发病机制相关的候选基因和信号通路列表(见表1)正在迅速增加。了解这些基因和信号通路的改变如何导致狼疮表型是未来SLE遗传学研究的主要目标。

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