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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.

DOI:10.1172/JCI46263
PMID:21881214
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3163957/
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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本文引用的文献

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Genome-wide association study identifies susceptibility loci for IgA nephropathy.全基因组关联研究鉴定出 IgA 肾病的易感性位点。
Nat Genet. 2011 Mar 13;43(4):321-7. doi: 10.1038/ng.787.
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Genes that link nephritis to autoantibodies and innate immunity.将肾炎与自身抗体和固有免疫联系起来的基因。
N Engl J Med. 2011 Feb 17;364(7):679-80. doi: 10.1056/NEJMe1014144.
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A genome-wide association study for diabetic nephropathy genes in African Americans.一项针对非裔美国人糖尿病肾病基因的全基因组关联研究。
Kidney Int. 2011 Mar;79(5):563-72. doi: 10.1038/ki.2010.467. Epub 2010 Dec 8.
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Genomics, type 2 diabetes, and obesity.基因组学、2型糖尿病与肥胖症
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Uromodulin-associated kidney disease.尿调素相关肾脏疾病。
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Genomics. 1000 Genomes Project gives new map of genetic diversity.基因组学。千人基因组计划绘制出遗传多样性新图谱。
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