Recent advances in the genetics of autoimmune disease.
Recent advances in the genetics of autoimmune disease.
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DOI：
10.1146/annurev.immunol.021908.132653
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发表时间：
2009
影响因子：
29.7
通讯作者：
Olsson LM
中科院分区：
文献类型：
--
作者：
Gregersen PK;Olsson LM
在过去的几年中，人类遗传学领域的非凡技术进步催化了关于人类自身免疫遗传学的新信息的爆炸式增长。特别是，扫描整个基因组寻找与疾病相关的常见多态性的能力已经导致了许多与自身免疫表型相关的新风险基因的鉴定。几个主题正在浮现。自身免疫性疾病具有复杂的遗传基础；多种基因与疾病风险有关，而每种基因的独立影响一般不大。此外，现在很清楚，共同基因是多种自身免疫性疾病的基础。在一种疾病和主要种族群体的亚表型之间也存在异质性。目前的遗传关联只是自身免疫遗传因素完整目录的开始，目前尚不清楚常见变异与多种罕见变异在多大程度上导致疾病易感性。目前的综述主要集中在功能相关的基因群内的最新发现，这些发现为人类自身免疫的新发病途径提供了线索。
Extraordinary technical advances in the field of human genetics over the past few years have catalyzed an explosion of new information about the genetics of human autoimmunity. In particular, the ability to scan the entire genome for common polymorphisms that associate with disease has led to the identification of numerous new risk genes involved in autoimmune phenotypes. Several themes are emerging. Autoimmune disorders have a complex genetic basis; multiple genes contribute to disease risk, each with generally modest effects independently. In addition, it is now clear that common genes underlie multiple autoimmune disorders. There is also heterogeneity among subphenotypes within a disease and across major racial groups. The current crop of genetic associations are only the start of a complete catalog of genetic factors for autoimmunity, and it remains unclear to what extent common variation versus multiple rare variants contribute to disease susceptibility. The current review focuses on recent discoveries within functionally related groups of genes that provide clues to novel pathways of pathogenesis for human autoimmunity.
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作者：
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