系统性自身免疫性疾病遗传学的最新发现。
Recent findings on genetics of systemic autoimmune diseases.
机构信息
Department of Genetics and Pathology, Rudbeck Laboratory, Uppsala University, Dag Hammarsjölds väg 20, 751 85 Uppsala, Sweden.
出版信息
Curr Opin Immunol. 2010 Dec;22(6):698-705. doi: 10.1016/j.coi.2010.09.002. Epub 2010 Oct 20.
Abstract
Association studies of over 1 million SNPs capturing most of the human genome common variation became possible thanks to the information provided by the HapMap International project and the development of high-throughput genotyping technologies at accessible prices. Genome-wide scans analyzing thousands of individuals have now identified most if not all of the major genes involved in susceptibility for several systemic autoimmune diseases. In particular, results for rheumatoid arthritis (RA), systemic lupus erythematosus (SLE), and systemic sclerosis (SSc) are reviewed here. While most genes are shared between diseases, few seem to be unique reflecting that we still are long before knowing all genes, their interactions with other genes and the environment and their impact on biological functions.
摘要
得益于 HapMap 国际项目提供的信息以及高通量基因分型技术以可承受的价格的发展，对涵盖人类基因组大部分常见变异的 100 多万个单核苷酸多态性的关联研究成为可能。全基因组扫描分析了数千名个体，现在已经确定了大多数（如果不是全部）与几种系统性自身免疫性疾病易感性相关的主要基因。在这里，我们回顾了类风湿关节炎 (RA)、系统性红斑狼疮 (SLE) 和系统性硬皮病 (SSc) 的结果。虽然大多数基因在疾病之间是共享的，但很少有基因似乎是独特的，这反映出我们仍然远未了解所有基因、它们与其他基因和环境的相互作用以及它们对生物学功能的影响。
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