The pioneering work of Dr Lewis K. Dahl established a relationship between kidney, salt, and high blood pressure (BP), which led to the major genetic-based experimental model of hypertension. BP, a heritable quantitative trait affected by numerous biological and environmental stimuli, is a major cause of morbidity and mortality worldwide and is considered to be a primary modifiable factor in renal, cardiovascular, and cerebrovascular diseases. Genome-wide association studies have identified monogenic and polygenic variants affecting BP in humans. Single nucleotide polymorphisms identified in genome-wide association studies have quantified the heritability of BP and the effect of genetics on hypertensive phenotype. Changes in the transcriptional program of genes may represent consequential determinants of BP, so understanding the mechanisms of the disease process has become a priority in the field. At the molecular level, the onset of hypertension is associated with reprogramming of gene expression influenced by epigenomics. This review highlights the specific genetic variants, mutations, and epigenetic factors associated with high BP and how these mechanisms affect the regulation of hypertension and kidney dysfunction.

中文翻译：

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调节血压和肾功能障碍的遗传和表观遗传机制


Lewis K. Dahl 博士的开创性工作建立了肾脏、盐和高血压 (BP) 之间的关系，从而催生了主要的基于遗传的高血压实验模型。 BP是一种受多种生物和环境刺激影响的遗传数量性状，是全世界发病和死亡的主要原因，被认为是肾脏、心血管和脑血管疾病的主要可改变因素。全基因组关联研究已经确定了影响人类血压的单基因和多基因变异。全基因组关联研究中鉴定的单核苷酸多态性量化了血压的遗传性以及遗传学对高血压表型的影响。基因转录程序的变化可能代表 BP 的后续决定因素，因此了解疾病过程的机制已成为该领域的首要任务。在分子水平上，高血压的发病与受表观基因组学影响的基因表达重编程有关。这篇综述重点介绍了与高血压相关的特定遗传变异、突变和表观遗传因素，以及这些机制如何影响高血压和肾功能障碍的调节。