Genetic basis of blood pressure and hypertension

• Published in: Trends in genetics Vol. 28; no. 8; pp. 397 - 408
• Main Authors: Padmanabhan, Sandosh, Newton-Cheh, Christopher, Dominiczak, Anna F
• Format: Journal Article
• Language: English
• Published: Amsterdam Elsevier Ltd 01.08.2012; Elsevier
• Subjects: Animals; Arterial hypertension. Arterial hypotension; artery; Biological and medical sciences; Blood and lymphatic vessels; Blood Pressure; Cardiology. Vascular system; Epigenesis, Genetic; Fundamental and applied biological sciences. Psychology; genetics; Genetics of eukaryotes. Biological and molecular evolution; Genome-Wide Association Study; Humans; hypertension; Hypertension - genetics; Hypertension - physiopathology; kidney; Medical Education; Medical sciences; Molecular and cellular biology; Phenotype; Polymorphism, Single Nucleotide; sodium; blood pressure; sodium; kidney; genetics; artery; hypertension; Hypertension; Cardiovascular disease; Genetics; Blood pressure; Hemodynamics
• ISSN: 0168-9525
• DOI: 10.1016/j.tig.2012.04.001

Blood pressure (BP) is a complex trait regulated by an intricate network of physiological pathways involving extracellular fluid volume homeostasis, cardiac contractility and vascular tone through renal, neural or endocrine systems. Untreated high BP, or hypertension (HTN), is associated with increased mortality, and thus a better understanding of the pathophysiological and genetic underpinnings of BP regulation will have a major impact on public health. However, identifying genes that contribute to BP and HTN has proved challenging. In this review we describe our current understanding of the genetic architecture of BP and HTN, which has accelerated over the past five years primarily owing to genome-wide association studies (GWAS) and the continuing progress in uncovering rare gene mutations, epigenetic markers and regulatory pathways involved in the physiology of BP. We also look ahead to future studies characterizing novel pathways that affect BP and HTN and discuss strategies for translating current findings to the clinic.