Genetics of kidney failure and the evolving story of APOL1
Genetics of kidney failure and the evolving story of APOL1
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DOI：
10.1172/jci46263
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发表时间：
2011-09-01
影响因子：
15.9
通讯作者：
Pollak, Martin R.
中科院分区：
文献类型：
--
作者：
Friedman, David J.;Pollak, Martin R.
慢性肾脏病（CKD）是由一系列损害肾脏执行其主要功能的能力的过程引起的。多达2000万美国人患有CKD，近50万人患有终末期肾病，但也有百岁老人具有足够的肾功能的例子。基于家族和全基因组的研究表明，遗传差异会显著影响个体终身患肾病的风险。一个新的主题是，与宿主防御病原体相关的基因的进化可能会限制肾脏的寿命。这些遗传因素的鉴定对于扩大我们对肾脏发育和功能的理解以及设计肾脏疾病的新疗法至关重要。
Chronic kidney disease (CKD) results from a wide array of processes that impair the kidney's ability to perform its major functions. As many as 20 million Americans suffer from CKD and nearly a half million from end-stage renal disease, but there are also examples of centenarians with adequate renal function. Family-based and genome-wide studies suggest that genetic differences substantially influence an individual's lifetime risk for kidney disease. One emerging theme is that evolution of genes related to host defense against pathogens may limit kidney longevity. The identification of these genetic factors will be critical for expanding our understanding of renal development and function as well as for the design of novel therapeutics for kidney disease.