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东亚人群系统性红斑狼疮的遗传学研究表明疾病易感性存在人群差异。

Genetic studies on systemic lupus erythematosus in East Asia point to population differences in disease susceptibility.

机构信息

Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong, China.

出版信息

Am J Med Genet C Semin Med Genet. 2019 Jun;181(2):262-268. doi: 10.1002/ajmg.c.31696. Epub 2019 Mar 21.

Abstract

Systemic lupus erythematosus (SLE) is a prototype autoimmune disease with extreme clinical heterogeneity and significant differences between populations. East Asian populations are known to have higher prevalence and more severe clinical manifestations for SLE than Europeans. The difference could be the result of genetic and environmental factors, and the interactions between them. Thus, identifying genetic associations from diverse populations provides an opportunity to better understand the genetic architecture of this heterogeneous disease. It is also necessary to elucidate population differences and to apply the findings in future stratified treatment of the disease, with ethnicity likely a major factor to consider. Indeed, it has shown that there are significant differences between East Asians and European populations in several genetic loci for SLE. Genetic studies on SLE are very active in East Asian countries and there have been close collaborations among scientists in this region. Here, we document some work done in this region on SLE genetic research and discuss the aspect of population differences.

摘要

系统性红斑狼疮(SLE)是一种典型的自身免疫性疾病,具有极端的临床异质性和人群间的显著差异。已知东亚人群的 SLE 患病率更高,临床表现更严重。这种差异可能是遗传和环境因素以及它们之间相互作用的结果。因此,从不同人群中识别遗传关联为更好地理解这种异质性疾病的遗传结构提供了机会。阐明人群差异并将研究结果应用于未来疾病的分层治疗也是必要的,而种族可能是一个需要考虑的主要因素。事实上,已经表明,在 SLE 的几个遗传位点上,东亚人和欧洲人群之间存在显著差异。东亚国家的 SLE 遗传研究非常活跃,该地区的科学家之间也进行了密切合作。在这里,我们记录了该地区在 SLE 遗传研究方面所做的一些工作,并讨论了人群差异方面的问题。

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