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| |  Researchers Uncover Genetic Variants Associated With Blood Pressure ROCKVILLE, Md -- May 15, 2009 -- An international research team has identified a number of unsuspected genetic variants associated with systolic blood pressure (SBP), diastolic blood pressure (DBP), and hypertension, suggesting potential avenues of investigation for the prevention or treatment of hypertension. The analysis of over 29,000 participants was presented on May 8 at the at the American Society of Hypertension (ASH) 24th Annual Scientific Meeting and Exposition, and is published online in the journal Nature Genetics. "This study provides important new insights into the biology of blood pressure regulation and, with continued research, may lead to the development of novel therapeutic approaches to combat hypertension and its complications," said Elizabeth G. Nabel, MD, National Heart, Lung, and Blood Institute (NHLBI), Rockville, Maryland. Blood pressure has a substantial genetic component and hypertension runs in families. Previous attempts to identify genes associated with blood pressure, however, have met with limited success. In a genome-wide association study (GWAS), researchers scanned millions of common genetic variants of individuals from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium to find variants associated with blood pressure and hypertension. This extensive resource includes white men and women from the Framingham Heart Study, Atherosclerosis Risk in Communities study, Cardiovascular Health Study, the Rotterdam Study, the Rotterdam Extension Study, and the Age, Gene/Environment Susceptibility Reykjavik Study. The investigators identified a number of single-nucleotide polymorphisms (SNPs) associated with SBP, DBP, and hypertension. When they jointly analysed their findings with those from the GWAS of over 34,000 participants in the Global BPgen Consortium (whose results are presented in an accompanying paper in the same issue of Nature Genetics), they identified 11 genes showing significant associations across the genome: 4 for SBP, 6 for DBP, and 1 for hypertension. The blood pressure genes include ATP2B1 which encodes PMCA1, a cell membrane enzyme that is involved in calcium transport; CACNB2, which encodes part of a calcium channel protein; and CYP17A1 which encodes an enzyme that is necessary for steroid production. One detected variant is within the gene SH2B3 and has been associated with autoimmune diseases, hinting that pathways involved with the immune response may influence blood pressure. Researchers found that the top 10 SNPs for systolic and diastolic blood pressure were each associated with around a 1 and 0.5 mm Hg increase in systolic and diastolic blood pressure, respectively. The prevalence of hypertension increased as the number of variants increased. SOURCE: National Institutes of Health
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