自身免疫性疾病遗传学的最新进展。
Recent advances in the genetics of autoimmune disease.
作者信息
Gregersen Peter K, Olsson Lina M
机构信息
Robert S. Boas Center for Genomics and Human Genetics, The Feinstein Institute for Medical Research, Manhasset, New York 11030, USA.
出版信息
Annu Rev Immunol. 2009;27:363-91. doi: 10.1146/annurev.immunol.021908.132653.
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.
在过去几年里,人类遗传学领域非凡的技术进步催生了有关人类自身免疫性遗传学的大量新信息。特别是,扫描整个基因组以寻找与疾病相关的常见多态性的能力,已促使人们识别出众多参与自身免疫表型的新风险基因。几个主题正在浮现。自身免疫性疾病具有复杂的遗传基础;多个基因促成疾病风险,每个基因单独的影响通常较小。此外,现在很清楚,常见基因是多种自身免疫性疾病的基础。在一种疾病的亚表型之间以及不同主要种族群体之间也存在异质性。当前的一系列基因关联研究仅仅是自身免疫性遗传因素完整目录的开端,而且常见变异与多个罕见变异在多大程度上导致疾病易感性仍不清楚。本综述聚焦于功能相关基因组内的近期发现,这些发现为人类自身免疫性发病机制的新途径提供了线索。
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