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    13 results match your criteria Circulation: Cardiovascular Genetics [Journal]

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    Associations Between Common and Rare Exonic Genetic Variants and Serum Levels of 20 Cardiovascular-Related Proteins: The Tromsø Study.
    Circ Cardiovasc Genet 2016 Aug 21;9(4):375-83. Epub 2016 Jun 21.
    From the Biomedical Sciences Graduate Program, University of California, San Diego, La Jolla (T.S.), Department of Pediatrics, Rady's Children's Hospital, San Diego, La Jolla, CA (E.N.S., H.M., K.A.F.); Institute for Genomic Medicine, University of California, San Diego, La Jolla (K.A.F.); Department of Clinical Medicine, K.G. Jebsen Thrombosis Research and Expertise Centre (TREC) (E.N.S., S.K.B., I.N., E.B.M., J.-B.H., K.A.F.), Department of Community Medicine (T.W., I.N.), and Brain and Circulation Research Group, Department of Clinical Medicine (E.B.M.), UiT The Arctic University of Norway; and Division of Internal Medicine, University Hospital of North Norway, Tromsø (S.K.B., J.-B.H.).
    Background: Genetic variation can be used to study causal relationships between biomarkers and diseases. Here, we identify new common and rare genetic variants associated with cardiovascular-related protein levels (protein quantitative trait loci [pQTLs]). We functionally annotate these pQTLs, predict and experimentally confirm a novel molecular interaction, and determine which pQTLs are associated with diseases and physiological phenotypes. Read More

    Recessive MYH6 Mutations in Hypoplastic Left Heart With Reduced Ejection Fraction.
    Circ Cardiovasc Genet 2015 Aug 17;8(4):564-71. Epub 2015 Jun 17.
    From the Cardiovascular Genetics Research Laboratory (J.L.T., T.M.O.), Division of Pediatric Cardiology, Department of Pediatric and Adolescent Medicine (M.Y.Q., P.W.O'L., T.M.O.), Division of Cardiovascular Diseases, Department of Internal Medicine (T.M.O.), Departments of Health Sciences Research and Biomedical Statistics and Informatics (M.T.Z., J.M.E.), Medical Genome Facility (B.W.E., E.D.W.), and Department of Biochemistry and Molecular Biology (E.D.W.), Mayo Clinic, Rochester, MN.
    Background: The molecular underpinnings of hypoplastic left heart are poorly understood. Staged surgical palliation has dramatically improved survival, yet eventual failure of the systemic right ventricle necessitates cardiac transplantation in a subset of patients. We sought to identify genetic determinants of hypoplastic left heart with latent right ventricular dysfunction in individuals with a Fontan circulation. Read More

    Family history of myocardial infarction and cause-specific risk of myocardial infarction and venous thromboembolism: the Tromsø Study.
    Circ Cardiovasc Genet 2014 Oct 2;7(5):684-91. Epub 2014 Aug 2.
    From the Department of Clinical Medicine, K.G. Jebsen Thrombosis Research and Expertise Center (TREC) (C.L., K.F.E., E.B.M., I.N., S.K.B., J.-B.H.), Department of Clinical Medicine, Hematological Research Group (C.L., K.F.E., S.K.B., J.-B.H.), Brain and Circulation Research Group, Department of Clinical Medicine (E.B.M.), Epidemiology of Chronic Diseases Research Group, Department of Community Medicine (I.N.), University of Tromsø, Tromsø, Norway; Department of Neurology and Clinical Neurophysiology (E.B.M.), Division of Internal Medicine (S.K.B., J.-B.H.), University Hospital of North Norway, Tromsø, Norway.
    Background: A family history of myocardial infarction (FHMI) has been shown to increase the risk of venous thromboembolism (VTE). The mechanism underlying the association remains unclear. Therefore, we aimed to determine the risks of MI and VTE by FHMI using a cause-specific model and to explore whether atherosclerotic risk factors could explain the association between FHMI and VTE in a population-based cohort. Read More

    A common polymorphism in extracellular superoxide dismutase affects cardiopulmonary disease risk by altering protein distribution.
    Circ Cardiovasc Genet 2014 Oct 1;7(5):659-66. Epub 2014 Aug 1.
    From the Department of Medicine, National Jewish Health, Denver, CO (J.M.H., D.A.G., R.E.O.-D., M.R.W., K.F.L., F.G., B.K., R.P.B.); Integrated Department of Immunology, University of Colorado, Denver (J.M.H.); Departments of Pediatrics (T.S., R.K.P.B., R.J., E.N.-G.) and Bioengineering (R.K.P.B.), University of Colorado School of Medicine, Aurora; Department of Molecular Biology and Genetics, Aarhus University, Aarhus, Denmark (Z.V.-H., C.S., J.J.E.); and Institut de Biologie du Developpement de Marseille Luminy, Aix-Marseille University, Marseille, France (A.K.Z.).
    Background: The enzyme extracellular superoxide dismutase (EC-SOD; SOD3) is a major antioxidant defense in lung and vasculature. A nonsynonomous single-nucleotide polymorphism in EC-SOD (rs1799895) leads to an arginine to glycine amino acid substitution at position 213 (R213G) in the heparin-binding domain. In recent human genetic association studies, this single-nucleotide polymorphism attenuates the risk of lung disease, yet paradoxically increases the risk of cardiovascular disease. Read More

    BMPR2 mutations influence phenotype more obviously in male patients with pulmonary arterial hypertension.
    Circ Cardiovasc Genet 2012 Oct 25;5(5):511-8. Epub 2012 Aug 25.
    Department of Cardio-Pulmonary Circulation, Shanghai Pulmonary Hospital, Tongji University School of Medicine, Shanghai, China.
    Background: BMPR2 mutations predispose to idiopathic and heritable pulmonary arterial hypertension (IPAH and HPAH). The influence of BMPR2 mutations on clinical outcome is not concordant in different ethnic groups. Although the BMPR2 mutation spectrum and mutation rate in Chinese PAH patients has been reported previously, the influence of genotype on phenotype and whether this influence is associated with sex have not been investigated. Read More

    Most read in cardiovascular genetics on biomarkers, inherited cardiomyopathies and arrhythmias, metabolomics, and genomics.
    • Authors:
    Circ Cardiovasc Genet 2011 Dec;4(6):e24-9
    The following articles are being highlighted as part of Circulation: Cardiovascular Genetics' Topic Review series. This series summarizes the most important manuscripts, as selected by the editors, that have been published in Circulation and the Circulation subspecialty journals. The studies included here represent the most-read articles published on the topic of biomarkers, inherited cardiomyopathies and arrhythmias, metabolomics, and genomics in 2009 and 2010. Read More

    Circulating MicroRNA-208b and MicroRNA-499 reflect myocardial damage in cardiovascular disease.
    Circ Cardiovasc Genet 2010 Dec 4;3(6):499-506. Epub 2010 Oct 4.
    Center for Heart Failure Research, Cardiovascular Research Institute, Universiteitssingel 50, Maastricht, The Netherlands.
    Background: Small RNA molecules, called microRNAs, freely circulate in human plasma and correlate with varying pathologies. In this study, we explored their diagnostic potential in a selection of prevalent cardiovascular disorders.

    Methods And Results: MicroRNAs were isolated from plasmas from well-characterized patients with varying degrees of cardiac damage: (1) acute myocardial infarction, (2) viral myocarditis, (3) diastolic dysfunction, and (4) acute heart failure. Read More

    EPHB4 gene polymorphisms and risk of intracranial hemorrhage in patients with brain arteriovenous malformations.
    Circ Cardiovasc Genet 2009 Oct 22;2(5):476-82. Epub 2009 Aug 22.
    Center for Cerebrovascular Research, University of California, San Francisco, Calif 94110, USA.
    Background: Brain arteriovenous malformations (BAVMs) are a tangle of abnormal vessels directly shunting blood from the arterial to venous circulation and an important cause of intracranial hemorrhage (ICH). EphB4 is involved in arterial-venous determination during embryogenesis; altered signaling could lead to vascular instability resulting in ICH. We investigated the association of single-nucleotide polymorphisms (SNPs) and haplotypes in EPHB4 with risk of ICH at clinical presentation in patients with BAVM. Read More

    Association of novel genetic Loci with circulating fibrinogen levels: a genome-wide association study in 6 population-based cohorts.
    Circ Cardiovasc Genet 2009 Apr;2(2):125-33
    Department of Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands.
    Background: Fibrinogen is both central to blood coagulation and an acute-phase reactant. We aimed to identify common variants influencing circulation fibrinogen levels.

    Methods And Results: We conducted a genome-wide association analysis on 6 population-based studies, the Rotterdam Study, the Framingham Heart Study, the Cardiovascular Health Study, the Atherosclerosis Risk in Communities Study, the Monitoring of Trends and Determinants in Cardiovascular Disease/KORA Augsburg Study, and the British 1958 Birth Cohort Study, including 22 096 participants of European ancestry. Read More

    Cardiovascular genomics, personalized medicine, and the National Heart, Lung, and Blood Institute: part I: the beginning of an era.
    Circ Cardiovasc Genet 2008 Oct;1(1):51-7
    Center for Population Studies in the Division of Intramural Research, Framingham Heart Study, Bethesda, MD, USA.
    The inaugural issue of Circulation: Cardiovascular Genetics arrives at a remarkable time in the history of genetic research and cardiovascular medicine. Despite tremendous progress in knowledge gained, cardiovascular disease(CVD) remains the leading cause of death in the United States,1 and it has overcome infectious diseases as the leading cause of death worldwide.2 In addition, rates of CVD remain higher in black and Hispanic populations in the United States. Read More

    Association between the coronary artery disease risk locus on chromosome 9p21.3 and abdominal aortic aneurysm.
    Circ Cardiovasc Genet 2008 Oct;1(1):39-42
    Department of Cardiovascular Sciences, University of Leicester, Leicester, UK.
    Background: Recent genome-wide studies have shown a significant association of a locus on chromosome 9p21.3 and coronary artery disease. We performed a case-control study to investigate the association between this locus and abdominal aortic aneurysm (AAA). Read More

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