补体因子H的转化性小型综述系列：人类补体因子H的遗传学与疾病关联
Translational mini-review series on complement factor H: genetics and disease associations of human complement factor H.
作者信息
de Córdoba S Rodríguez, de Jorge E Goicoechea
机构信息
Centro de Investigaciones Biológicas and Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.
出版信息
Clin Exp Immunol. 2008 Jan;151(1):1-13. doi: 10.1111/j.1365-2249.2007.03552.x.
Abstract
Factor H is an abundant plasma glycoprotein that plays a critical role in the regulation of the complement system in plasma and in the protection of host cells and tissues from damage by complement activation. Several recent studies have described the association of genetic variations of the complement factor H gene (CFH) with atypical haemolytic uraemic syndrome (aHUS), age-related macular degeneration (AMD) and membranoproliferative glomerulonephritis (MPGN). This review summarizes our current knowledge of CFH genetics and examines the CFH genotype-phenotype correlations that are helping to understand the molecular basis underlying these renal and ocular pathologies.
摘要
补体因子H是一种丰富的血浆糖蛋白，在调节血浆中的补体系统以及保护宿主细胞和组织免受补体激活损伤方面发挥着关键作用。最近的几项研究描述了补体因子H基因（CFH）的遗传变异与非典型溶血性尿毒症综合征（aHUS）、年龄相关性黄斑变性（AMD）和膜增生性肾小球肾炎（MPGN）之间的关联。本综述总结了我们目前对CFH遗传学的认识，并探讨了CFH基因型与表型的相关性，这些相关性有助于理解这些肾脏和眼部疾病的分子基础。
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