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Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk

Blood pressure is a heritable trait influenced by several biological pathways and responsive to environmental stimuli. Over one billion people worldwide have hypertension (>/=140 mm Hg systolic blood pressure or >/=90 mm Hg diastolic blood pressure). Even small increments in blood pressure are associated with an increased risk of cardiovascular events. This genome-wide association study of systolic and diastolic blood pressure; which used a multi-stage design in 200;000 individuals of European descent; identified sixteen novel loci: six of these loci contain genes previously known or suspected to regulate blood pressure (GUCY1A3-GUCY1B3; NPR3-C5orf23; ADM; FURIN-FES; GOSR2; GNAS-EDN3); the other ten provide new clues to blood pressure physiology. A genetic risk score based on 29 genome-wide significant variants was associated with hypertension; left ventricular wall thickness; stroke and coronary artery disease; but not kidney disease or kidney function. We also observed associations with blood pressure in East Asian; South Asian and African ancestry individuals. Our findings provide new insights into the genetics and biology of blood pressure; and suggest potential novel therapeutic pathways for cardiovascular disease prevention.

Authors: International Consortium for Blood Pressure Genome-Wide Association Studies; Galan P; Guarrera S; Rice KM; Bergman R; et al.

Nature. 2011 Sep 11;478(7367):103-9.

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