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Via NIH Press - An international research team has identified a number of unsuspected genetic variants associated with systolic blood pressure (SBP), diastolic blood pressure (DBP), and hypertension (high blood pressure), suggesting potential avenues of investigation for the prevention or treatment of hypertension. The research was funded in part by the National Heart, Lung, and Blood Institute (NHLBI) of the National Institutes of Health and by several other NIH institutes and centers.
The analysis of over 29,000 participants is being presented at the American Society of Hypertension, Inc. scientific meeting on May 8, 2009, and is published online in the journal Nature Genetics on May 10, 2009.
"This study provides important new insights into the biology of blood pressureregulation and, with continued research, may lead to the development of noveltherapeutic approaches to combat hypertension and its complications," said NHLBIDirector Elizabeth G. Nabel, M.D. About 1 in 3 adults (approximately 72 million people) in the United States hashigh blood pressure. Hypertension can lead to coronary heart disease, heart failure,stroke, kidney failure, and other health problems, and causes over 7 milliondeaths worldwide each year.
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 Researchin Genomic Epidemiology (CHARGE) consortium to find variants associated withblood pressure and hypertension. This extensive resource includes white men andwomen 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 genetic variants or single-nucleotidepolymorphisms (SNPs) associated with SBP, DBP, and hypertension. When they jointly analyzed their findings with those from the GWAS of over 34,000 participantsin the Global BPgen Consortium (whose results are presented in an accompanyingpaper in the same issue of Nature Genetics), they identified 11 genes showingsignificant associations across the genome: four for SBP, six for DBP, and onefor hypertension.
"Large scale genome-wide association studies are providing a number of important insights into identifying genes that play a role in diseases with major publichealth impact," said Dr. Daniel Levy, first author of the study and director,the NHLBI?s Framingham Heart Study and Center for Population Studies. "We haveidentified eight key genes, few of which would have been on anyone?s short listof suspected blood pressure genes until now."
The international research team included Cornelia M. van Duijn, Ph.D., ErasmusMedical Center, Rotterdam, the Netherlands; Aravinda Chakravarti, Ph.D., JohnsHopkins University; Bruce Psaty, M.D., Ph.D., University of Washington; and VilmundurGudnason, M.D., Ph.D., Icelandic Heart Association, Kopayogur, Iceland. The blood pressure genes include ATP2B1 which encodes PMCA1, a cell membraneenzyme that is involved in calcium transport; CACNB2, which encodes part of acalcium channel protein; and CYP17A1 which encodes an enzyme that is necessaryfor steroid production. One detected variant is within the gene SH2B3 and hasbeen associated with autoimmune diseases, hinting that pathways involved withthe immune response may influence blood pressure.
Blood pressure is measured in millimeters of mercury (mm Hg), and expressed withtwo numbers, for example, 120/80 mm Hg. The first number (systolic pressure)is the pressure when the heart beats while pumping blood. The second number (diastolicpressure) is the pressure in large arteries when the heart is at rest betweenbeats. Researchers found that the top 10 gene variants, or SNPs, for systolic and diastolicblood pressure were each associated with around a 1 and 0.5 mm Hg increase insystolic and diastolic blood pressure, respectively. The prevalence of hypertensionincreased as the number of variants increased. People who carry very few blood pressure genetic risk variants have blood pressurelevels that are several mm Hg lower than those who carry multiple risk variants.In practical terms this is enough to increase the risk for cardiovascular disease.A prolonged increase in DBP of only 5 mm Hg is associated with a 34 percent increasein risk for stroke and a 21 percent increase of coronary heart disease.
The research was funded by NHLBI grants and contracts and was also supportedby the National Human Genome Research Institute (NHGRI), National Center forResearch Resources (NCRR), National Institute on Aging (NIA), and the NIH Roadmap. To interview an NHLBI spokesperson, contact the NHLBI Communications Office at301-496-4236 or at nhlbi_news@nhlbi.nih.gov. NHGRI led the Human Genome Project for the NIH, and now moves forward into thegenomic era with research aimed at improving human health and fighting disease.Additional information about NHGRI can be found at its Web site, www.genome.gov. The National Center for Research Resources, part of NIH, provides laboratoryscientists and clinical researchers with the resources and training they needto understand, detect, treat and prevent a wide range of diseases.
NCRR supportsall aspects of translational and clinical research, connecting researchers, patientsand communities across the nation. For more information, visit www.ncrr.nih.gov. The NIA leads the federal effort supporting and conducting research on agingand the medical, social and behavioral issues of older people. For more informationon research and aging, go to www.nia.nih.gov. Part of the National Institutes of Health, the National Heart, Lung, and BloodInstitute (NHLBI) plans, conducts, and supports research related to the causes,prevention, diagnosis, and treatment of heart, blood vessel, lung, and blooddiseases; and sleep disorders.
The Institute also administers national healtheducation campaigns on women and heart disease, healthy weight for children,and other topics. NHLBI press releases and other materials are available onlineat www.nhlbi.nih.gov. The National Institutes of Health (NIH) ? The Nation's Medical Research Agency ? includes 27 Institutes and Centers and is a component of the U.S. Department of Health and Human Services. It is the primary federal agency for conducting and supporting basic, clinical and translational medical research, and it investigates the causes, treatments, and cures for both common and rare diseases.
Genetic Clues to Blood Pressure Identified
| May 11th 2009 | Research Cardiovascular |
Via NIH Press - An international research team has identified a number of unsuspected genetic variants associated with systolic blood pressure (SBP), diastolic blood pressure (DBP), and hypertension (high blood pressure), suggesting potential avenues of investigation for the prevention or treatment of hypertension. The research was funded in part by the National Heart, Lung, and Blood Institute (NHLBI) of the National Institutes of Health and by several other NIH institutes and centers.
The analysis of over 29,000 participants is being presented at the American Society of Hypertension, Inc. scientific meeting on May 8, 2009, and is published online in the journal Nature Genetics on May 10, 2009.
"This study provides important new insights into the biology of blood pressureregulation and, with continued research, may lead to the development of noveltherapeutic approaches to combat hypertension and its complications," said NHLBIDirector Elizabeth G. Nabel, M.D. About 1 in 3 adults (approximately 72 million people) in the United States hashigh blood pressure. Hypertension can lead to coronary heart disease, heart failure,stroke, kidney failure, and other health problems, and causes over 7 milliondeaths worldwide each year.
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 Researchin Genomic Epidemiology (CHARGE) consortium to find variants associated withblood pressure and hypertension. This extensive resource includes white men andwomen 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 genetic variants or single-nucleotidepolymorphisms (SNPs) associated with SBP, DBP, and hypertension. When they jointly analyzed their findings with those from the GWAS of over 34,000 participantsin the Global BPgen Consortium (whose results are presented in an accompanyingpaper in the same issue of Nature Genetics), they identified 11 genes showingsignificant associations across the genome: four for SBP, six for DBP, and onefor hypertension.
"Large scale genome-wide association studies are providing a number of important insights into identifying genes that play a role in diseases with major publichealth impact," said Dr. Daniel Levy, first author of the study and director,the NHLBI?s Framingham Heart Study and Center for Population Studies. "We haveidentified eight key genes, few of which would have been on anyone?s short listof suspected blood pressure genes until now."
The international research team included Cornelia M. van Duijn, Ph.D., ErasmusMedical Center, Rotterdam, the Netherlands; Aravinda Chakravarti, Ph.D., JohnsHopkins University; Bruce Psaty, M.D., Ph.D., University of Washington; and VilmundurGudnason, M.D., Ph.D., Icelandic Heart Association, Kopayogur, Iceland. The blood pressure genes include ATP2B1 which encodes PMCA1, a cell membraneenzyme that is involved in calcium transport; CACNB2, which encodes part of acalcium channel protein; and CYP17A1 which encodes an enzyme that is necessaryfor steroid production. One detected variant is within the gene SH2B3 and hasbeen associated with autoimmune diseases, hinting that pathways involved withthe immune response may influence blood pressure.
Blood pressure is measured in millimeters of mercury (mm Hg), and expressed withtwo numbers, for example, 120/80 mm Hg. The first number (systolic pressure)is the pressure when the heart beats while pumping blood. The second number (diastolicpressure) is the pressure in large arteries when the heart is at rest betweenbeats. Researchers found that the top 10 gene variants, or SNPs, for systolic and diastolicblood pressure were each associated with around a 1 and 0.5 mm Hg increase insystolic and diastolic blood pressure, respectively. The prevalence of hypertensionincreased as the number of variants increased. People who carry very few blood pressure genetic risk variants have blood pressurelevels that are several mm Hg lower than those who carry multiple risk variants.In practical terms this is enough to increase the risk for cardiovascular disease.A prolonged increase in DBP of only 5 mm Hg is associated with a 34 percent increasein risk for stroke and a 21 percent increase of coronary heart disease.
The research was funded by NHLBI grants and contracts and was also supportedby the National Human Genome Research Institute (NHGRI), National Center forResearch Resources (NCRR), National Institute on Aging (NIA), and the NIH Roadmap. To interview an NHLBI spokesperson, contact the NHLBI Communications Office at301-496-4236 or at nhlbi_news@nhlbi.nih.gov. NHGRI led the Human Genome Project for the NIH, and now moves forward into thegenomic era with research aimed at improving human health and fighting disease.Additional information about NHGRI can be found at its Web site, www.genome.gov. The National Center for Research Resources, part of NIH, provides laboratoryscientists and clinical researchers with the resources and training they needto understand, detect, treat and prevent a wide range of diseases.
NCRR supportsall aspects of translational and clinical research, connecting researchers, patientsand communities across the nation. For more information, visit www.ncrr.nih.gov. The NIA leads the federal effort supporting and conducting research on agingand the medical, social and behavioral issues of older people. For more informationon research and aging, go to www.nia.nih.gov. Part of the National Institutes of Health, the National Heart, Lung, and BloodInstitute (NHLBI) plans, conducts, and supports research related to the causes,prevention, diagnosis, and treatment of heart, blood vessel, lung, and blooddiseases; and sleep disorders.
The Institute also administers national healtheducation campaigns on women and heart disease, healthy weight for children,and other topics. NHLBI press releases and other materials are available onlineat www.nhlbi.nih.gov. The National Institutes of Health (NIH) ? The Nation's Medical Research Agency ? includes 27 Institutes and Centers and is a component of the U.S. Department of Health and Human Services. It is the primary federal agency for conducting and supporting basic, clinical and translational medical research, and it investigates the causes, treatments, and cures for both common and rare diseases.
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