系统性红斑狼疮的遗传易感性：精细定位和全基因组关联研究的新见解
Genetic susceptibility to SLE: new insights from fine mapping and genome-wide association studies.
作者信息
Harley Isaac T W, Kaufman Kenneth M, Langefeld Carl D, Harley John B, Kelly Jennifer A
机构信息
Oklahoma Medical Research Foundation, 825 North East 13th Street, Oklahoma City, Oklahoma 73104, USA.
出版信息
Nat Rev Genet. 2009 May;10(5):285-90. doi: 10.1038/nrg2571.
Abstract
Genome-wide association studies and fine mapping of candidate regions have rapidly advanced our understanding of the genetic basis of systemic lupus erythematosus (SLE). More than 20 robust associations have now been identified and confirmed, providing insights at the molecular level that refine our understanding of the involvement of host immune response processes. In addition, genes with unknown roles in SLE pathophysiology have been identified. These findings may provide new routes towards improved clinical management of this complex disease.
摘要
全基因组关联研究以及候选区域的精细定位迅速提升了我们对系统性红斑狼疮（SLE）遗传基础的理解。目前已识别并确认了20多个显著关联，这在分子水平上提供了见解，深化了我们对宿主免疫反应过程参与情况的理解。此外，还发现了在SLE病理生理学中作用未知的基因。这些发现可能为改善这种复杂疾病的临床管理提供新途径。
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