肾衰竭的遗传学及 APOL1 的演进故事。
Genetics of kidney failure and the evolving story of APOL1.
机构信息
Nephrology Division, Department of Medicine, Beth Israel Deaconess Medical Center, Boston, Massachusetts 02115, USA.
出版信息
J Clin Invest. 2011 Sep;121(9):3367-74. doi: 10.1172/JCI46263. Epub 2011 Sep 1.
Abstract
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.
摘要
慢性肾脏病（CKD）是由多种损害肾脏功能的过程引起的。多达 2000 万美国人患有 CKD，近 50 万人患有终末期肾病，但也有百岁老人肾功能正常的例子。基于家族和全基因组的研究表明，遗传差异极大地影响个体患肾脏病的终身风险。一个新兴的主题是，与宿主对抗病原体的防御相关的基因进化可能限制肾脏的寿命。这些遗传因素的鉴定对于扩展我们对肾脏发育和功能的理解以及为肾脏疾病设计新的治疗方法至关重要。
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