Division of Nephrology, Department of Medicine, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, Massachusetts.
Clin J Am Soc Nephrol. 2020 Feb 7;15(2):268-275. doi: 10.2215/CJN.09340819. Epub 2020 Jan 28.
The kidney is subject to a wide range of abnormalities, many of which have a significant hereditable component. Next generation sequencing is increasingly bringing the genetic drivers of Mendelian disease into focus at the base pair level, whereas inexpensive genotyping arrays have surveyed hundreds of thousands of individuals to identify common variants that predispose to kidney dysfunction. In this first article in a CJASN series on kidney genomics, we review how both rare and common variants contribute to kidney disease, explore how evolution may influence the genetic variants that affect kidney function, consider how genetic information is and will be used in the clinic, and identify some of the most important future directions for kidney disease research. Forthcoming articles in the series will elaborate on many of these themes.
肾脏易发生多种异常,其中许多异常具有重要的遗传成分。新一代测序技术正日益深入研究孟德尔疾病的遗传驱动因素,精确到碱基对水平,而成本低廉的基因分型芯片则对数十万人进行了检测,以确定导致肾功能障碍的常见变异。在 CJASN 系列关于肾脏基因组学的第一篇文章中,我们回顾了稀有和常见变异如何共同导致肾脏疾病,探讨了进化可能如何影响影响肾脏功能的遗传变异,考虑了遗传信息目前和将来在临床上的应用,并确定了肾脏疾病研究的一些最重要的未来方向。本系列的后续文章将详细阐述其中的许多主题。