From the Institute of Cardiovascular and Medical Sciences, College of Medical, Veterinary and Life Sciences University of Glasgow, Glasgow, United Kingdom (S.P., A.F.D.); and Queen Mary University of London, Barts and The London School of Medicine, Clinical Pharmacology, London, United Kingdom (M.C.).
Circ Res. 2015 Mar 13;116(6):937-59. doi: 10.1161/CIRCRESAHA.116.303647.
Until recently, significant advances in our understanding of the mechanisms of blood pressure regulation arose from studies of monogenic forms of hypertension and hypotension, which identified rare variants that primarily alter renal salt handling. Genome-wide association and exome sequencing studies over the past 6 years have resulted in an unparalleled burst of discovery in the genetics of blood pressure regulation and hypertension. More importantly, genome-wide association studies, while expanding the list of common genetic variants associated with blood pressure and hypertension, are also uncovering novel pathways of blood pressure regulation that augur a new era of novel drug development, repurposing, and stratification in the management of hypertension. In this review, we describe the current state of the art of the genetic and molecular basis of blood pressure and hypertension.
直到最近，我们对血压调节机制的理解取得了重大进展，这主要得益于对单基因形式的高血压和低血压的研究，这些研究发现了主要改变肾脏盐处理的罕见变异。在过去的 6 年中，全基因组关联和外显子组测序研究带来了血压调节和高血压遗传学领域前所未有的发现热潮。更重要的是，全基因组关联研究虽然扩大了与血压和高血压相关的常见遗传变异列表，但也揭示了血压调节的新途径，预示着在高血压的药物开发、再利用和分层管理方面将迎来一个新的时代。在这篇综述中，我们描述了血压和高血压的遗传和分子基础的最新进展。
