Recent findings on genetics of systemic autoimmune diseases.

Recent findings on genetics of systemic autoimmune diseases.
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DOI:
10.1016/j.coi.2010.09.002
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发表时间:
2010-12
影响因子:
7
通讯作者:
Alarcón-Riquelme ME
Alarcón-Riquelme ME
中科院分区:
医学2区
文献类型:
--
作者:
Delgado-Vega A;Sánchez E;Löfgren S;Castillejo-López C;Alarcón-Riquelme ME

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由于HapMap International项目提供的信息和以可接受的价格开发的高通量基因分型技术,对超过100万个SNP的关联研究捕获了大多数人类基因组常见变异。全基因组扫描分析了数千个个体,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有关的主要基因。特别是,类风湿性关节炎(RA),系统性红斑狼疮(SLE)和系统性硬化症(SSc)的结果进行审查。虽然大多数基因在疾病之间是共享的,但似乎很少有独特的基因,这反映出我们在了解所有基因、它们与其他基因和环境的相互作用以及它们对生物功能的影响之前还有很长的时间。
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.
中国汉族人群的全基因组关联研究确定了系统性红斑狼疮的九个新易感位点
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