Apolipoprotein L1 and Kidney Disease in African Americans.
Apolipoprotein L1 and Kidney Disease in African Americans.
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DOI：
10.1016/j.tem.2016.02.002
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发表时间：
2016-04
期刊：
影响因子：
--
通讯作者：
Pollak MR
中科院分区：
文献类型：
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作者：
Friedman DJ;Pollak MR
载脂蛋白L1(APOL1)基因的遗传变异导致非裔美国人患肾脏疾病的几率很高。这些变异只在最近有非洲血统的人身上发现，增强了对非洲锥虫的先天免疫力。虽然它们是迄今为止发现的最强大的致病常见变异之一，但我们才刚刚开始了解它们是如何促进肾脏损伤的。由于APOL1只存在于少数灵长类物种中，我们目前的大部分知识来自人类的自然实验和体外研究，同时还在等待转基因动物模型的开发。更多地了解APOL1的功能以及高危变体如何与其他APOL1分子不同的行为是肾脏疾病研究的首要任务。
Genetic variants in the Apolipoprotein L1 (APOL1) gene cause high rates of kidney disease in African Americans. These variants, found only in individuals with recent African ancestry, confer enhanced innate immunity against African trypanosomes. Though they are among the most powerful disease-causing common variants discovered to date, we are just beginning to understand how they promote kidney injury. Since APOL1 is only present in a few primate species, much of our current knowledge has come from natural experiments in humans and in vitro studies while awaiting the development of transgenic animal models. Understanding more about the function of ApoL1 and how the high-risk variants behave differently from other ApoL1 molecules is a high priority in kidney disease research.