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Autor: Werdan, Karl

3 záznamů v Medvik Filtry

Článek

Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization

Arking, Dan E
Autor Arking, Dan E ] Center for Complex Disease Genomics, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA. [2]
Pulit, Sara L
Autor Pulit, Sara L ] Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, USA. [2] Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA. [3] Department of Medical Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, The Netherlands. [4]
Crotti, Lia
Autor Crotti, Lia ] Department of Molecular Medicine, Section of Cardiology, University of Pavia, Pavia, Italy. [2] Center for Cardiac Arrhythmias of Genetic Origin, Istituto di Ricerca e Cura a Carattere Scientifico Istituto Auxologico Italiano, Milan, Italy. [3] Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany
van der Harst, Pim
Autor van der Harst, Pim ] Department of Cardiology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands. [2] Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands
Munroe, Patricia B
Autor Munroe, Patricia B ] Clinical Pharmacology, William Harvey Research Institute, Barts and the London School of Medicine, Queen Mary University of London, London, UK. [2] Barts and the London Genome Centre, William Harvey Research Institute, Barts and the London School of Medicine, Queen Mary University of London, London, UK
Koopmann, Tamara T
Autor Koopmann, Tamara T Heart Failure Research Center, Department of Clinical and Experimental Cardiology, Academic Medical Center, Amsterdam, The Netherlands
Sotoodehnia, Nona
Autor Sotoodehnia, Nona ] Cardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle, Washington, USA. [2] Cardiology Division, University of Washington, Seattle, Washington, USA
Rossin, Elizabeth J
Autor Rossin, Elizabeth J ] Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA. [2] Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts, USA. [3] Harvard Medical School, Boston, Massachusetts, USA
Morley, Michael
Autor Morley, Michael Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA
Wang, Xinchen
Autor Wang, Xinchen ] Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA. [2] Computer Science and Artificial Intelligence Laboratory, Massachusetts Institute of Technology, Cambridge, Massachusetts, USA. [3] Department of Biology, Massachusetts Institute of Technology, Cambridge, Massachusetts, USA

Nature genetics. 2014 ; 46 (8) : 826-36.

Nat Genet
ISSN 1546-1718
Medvik
Zdroj

The QT interval, an electrocardiographic measure reflecting myocardial repolarization, is a heritable trait. QT prolongation is a risk factor for ventricular arrhythmias and sudden cardiac death (SCD) and could indicate the presence of the potentially lethal mendelian long-QT syndrome (LQTS). Using a genome-wide association and replication study in up to 100,000 individuals, we identified 35 common variant loci associated with QT interval that collectively explain ∼8-10% of QT-interval variation and highlight the importance of calcium regulation in myocardial repolarization. Rare variant analysis of 6 new QT interval-associated loci in 298 unrelated probands with LQTS identified coding variants not found in controls but of uncertain causality and therefore requiring validation. Several newly identified loci encode proteins that physically interact with other recognized repolarization proteins. Our integration of common variant association, expression and orthogonal protein-protein interaction screens provides new insights into cardiac electrophysiology and identifies new candidate genes for ventricular arrhythmias, LQTS and SCD.

MeSH
celogenomová asociační studie metody MeSH
dospělí MeSH
elektrokardiografie metody MeSH
genetická predispozice k nemoci MeSH
genotyp MeSH
jednonukleotidový polymorfismus MeSH
lidé středního věku MeSH
lidé MeSH
myokard metabolismus MeSH
náhlá srdeční smrt etiologie MeSH
senioři MeSH
srdeční arytmie genetika metabolismus MeSH
srdeční komory metabolismus MeSH
syndrom dlouhého QT genetika metabolismus MeSH
vápníková signalizace genetika MeSH
Check Tag
dospělí MeSH
lidé středního věku MeSH
lidé MeSH
mužské pohlaví MeSH
senioři MeSH
ženské pohlaví MeSH
Publikační typ
časopisecké články MeSH
metaanalýza MeSH

Kniha

Immunglobuline : immunglobuline und cytokine Aspekte der Immunglobulintherapie aktuelle therapieansätze in der Sepsis : Immunglobulin-Workshop der Firma BAYER, Biologische Preparate : 12. bis 15. Oktober 1995, Dresden

Basel : Karger, 1996

Infusionstherapie und Transfusionsmedizin, ISSN 1019-8466 Band 23, Suppl. 4, Dezember 1996

136 s. : tab., grafy ; 30 cm

Kniha

Neue Aspekte beim Einsatz von i.v. Immunoglobulinen : Workshop : Travemünde 10. bis 12. September 1992

Basel : Karger, 1993

Infusionstherapie und Transfusionsmedizin, ISSN 1019-8466 Band 20, Suppl. 1, April 1993

152 s. : tab., grafy ; 30 cm

Kolekce

Publikováno

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