Friedman David J, Pollak Martin R
Beth Israel Deaconess Medical Center, Harvard Medical School, 99 Brookline Avenue, RN301, Boston, MA 02215, USA.
Beth Israel Deaconess Medical Center, Harvard Medical School, 99 Brookline Avenue, RN301, Boston, MA 02215, USA.
Trends Endocrinol Metab. 2016 Apr;27(4):204-215. doi: 10.1016/j.tem.2016.02.002. Epub 2016 Mar 3.
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. Although 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 present in only 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.
载脂蛋白L1(APOL1)基因中的遗传变异导致非裔美国人肾病高发。这些变异仅在有近期非洲血统的个体中发现,赋予针对非洲锥虫的增强先天免疫力。尽管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如何促进肾损伤。由于APOL1仅存在于少数灵长类物种中,我们目前的许多知识来自人类自然实验和体外研究,同时等待转基因动物模型的开发。更多了解ApoL1的功能以及高危变异与其他ApoL1分子的行为差异是肾病研究的当务之急。