Common and rare genetic variants of complement components in human disease
Common and rare genetic variants of complement components in human disease
复制标题
DOI：
10.1016/j.molimm.2018.06.011
复制
发表时间：
2018-10-01
影响因子：
3.6
通讯作者：
Rodriguez de Cordoba, Santiago
中科院分区：
文献类型：
--
作者：
Goicoechea de Jorge, Elena;Lopez Lera, Alberto;Rodriguez de Cordoba, Santiago
补体系统的遗传变异性及其与疾病的相关性已经知道了50多年，但只有在过去的十年中，我们才开始了解这种补体遗传变异性如何有助于疾病的发展。许多报道已经描述了重要的基因型-表型相关性，其将特定疾病与改变补体系统的活化和调节的特定方面的遗传变体相关联。这些遗传变异中的一些的详细功能表征提供了对这些病理的致病机制的关键见解，这促进了特异性抗补体疗法的设计。重要的是，这些分析有时揭示了补体蛋白的未知特征。总的来说，这些进展已经描绘了补体系统中遗传变异的功能意义，这支持了基于患者补体遗传组成的精准医学方法的实施。在这里，我们提供了一个罕见的补体变异和常见的多态性与疾病的概述，并讨论我们从他们那里学到了什么。
Genetic variability in the complement system and its association with disease has been known for more than 50 years, but only during the last decade have we begun to understand how this complement genetic variability contributes to the development of diseases. A number of reports have described important genotype-phenotype correlations that associate particular diseases with genetic variants altering specific aspects of the activation and regulation of the complement system. The detailed functional characterization of some of these genetic variants provided key insights into the pathogenic mechanisms underlying these pathologies, which is facilitating the design of specific anti-complement therapies. Importantly, these analyses have sometimes revealed unknown features of the complement proteins. As a whole, these advances have delineated the functional implications of genetic variability in the complement system, which supports the implementation of a precision medicine approach based on the complement genetic makeup of the patients. Here we provide an overview of rare complement variants and common polymorphisms associated with disease and discuss what we have learned from them.