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信号传导/免疫调节分子中的基因变异在系统性红斑狼疮易感性中的作用。

Roles of genetic variations in signalling/immunoregulatory molecules in susceptibility to systemic lupus erythematosus.

作者信息

Akahoshi Mitsuteru, Nakashima Hitoshi, Shirakawa Taro

机构信息

Laboratory for Genetics of Allergic Diseases, SNP Research Center, RIKEN Yokohama Institute, RIKEN, Yokohama, Japan.

出版信息

Semin Immunol. 2006 Aug;18(4):224-9. doi: 10.1016/j.smim.2006.03.010. Epub 2006 May 4.

Abstract

Systemic lupus erythematosus (SLE) is a systemic autoimmune disease with a complex genetic basis that includes many susceptibility genes on multiple chromosomes. As complex human diseases like SLE involve multiple, interacting genetic and environmental determinants, identifying genes for complex traits is challenging and has had limited success so far. However, recent advances in genetic resources and technology have been providing new tools to identify the novel pathways or the sequence variants that contribute to autoimmune diseases. During the past several years, several new candidate genes have been implicated in development of SLE though association studies. In this article we describe an overview of the latest findings in the genetics of SLE, especially focusing on the genetic variations in the signalling or immunoregulatory molecules including CD28 and IRF family members.

摘要

系统性红斑狼疮(SLE)是一种具有复杂遗传基础的全身性自身免疫性疾病,其遗传基础包括多条染色体上的许多易感基因。由于像SLE这样的复杂人类疾病涉及多个相互作用的遗传和环境决定因素,因此鉴定复杂性状的基因具有挑战性,并且迄今为止取得的成功有限。然而,遗传资源和技术的最新进展一直在提供新工具,以识别导致自身免疫性疾病的新途径或序列变异。在过去几年中,通过关联研究,有几个新的候选基因与SLE的发病有关。在本文中,我们概述了SLE遗传学的最新发现,尤其关注包括CD28和IRF家族成员在内的信号传导或免疫调节分子的遗传变异。

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