Genetic and Molecular Aspects of Hypertension

• Published in: Circulation research Vol. 116; no. 6; pp. 937 - 959
• Main Authors: Padmanabhan, Sandosh, Caulfield, Mark, Dominiczak, Anna F
• Format: Journal Article
• Language: English
• Published: United States American Heart Association, Inc 13.03.2015
• Subjects: Adrenal Gland Neoplasms - genetics; Adrenal Gland Neoplasms - physiopathology; Bartter Syndrome - genetics; Bartter Syndrome - physiopathology; Blood Pressure - genetics; Blood Pressure - physiology; Female; Genetic Predisposition to Disease; Genome-Wide Association Study; Glucocorticoids - physiology; Humans; Hyperaldosteronism - genetics; Hyperaldosteronism - physiopathology; Hypertension - drug therapy; Hypertension - genetics; Hypertension - physiopathology; Hypertension, Pregnancy-Induced - genetics; Hypertension, Pregnancy-Induced - physiopathology; Hypotension - genetics; Kidney Diseases - genetics; Kidney Diseases - physiopathology; Male; Mineralocorticoids - physiology; Models, Cardiovascular; Mutation; Neoplastic Syndromes, Hereditary - genetics; Neoplastic Syndromes, Hereditary - physiopathology; Oligonucleotide Array Sequence Analysis; Paraganglioma - genetics; Paraganglioma - physiopathology; Pheochromocytoma - genetics; Pheochromocytoma - physiopathology; Polymorphism, Single Nucleotide; Pregnancy; Renin-Angiotensin System - genetics; Renin-Angiotensin System - physiology; Sodium, Dietary - adverse effects; Sodium, Dietary - pharmacokinetics; Sympathetic Nervous System - physiopathology; blood pressure; uromodulin; exome; hypertension; natriuretic peptide, brain; genome-wide association study
• ISSN: 0009-7330; 1524-4571
• 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.