Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00023001%3A_____%2F14%3A00059037" target="_blank" >RIV/00023001:_____/14:00059037 - isvavai.cz</a>
Result on the web
<a href="http://www.nature.com/ng/journal/v46/n8/full/ng.3014.html" target="_blank" >http://www.nature.com/ng/journal/v46/n8/full/ng.3014.html</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1038/ng.3014" target="_blank" >10.1038/ng.3014</a>
Alternative languages
Result language
angličtina
Original language name
Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization
Original language description
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 similar to 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 causalityand 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-pr
Czech name
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Czech description
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Classification
Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
EB - Genetics and molecular biology
OECD FORD branch
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Result continuities
Project
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Continuities
N - Vyzkumna aktivita podporovana z neverejnych zdroju
Others
Publication year
2014
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Nature genetics
ISSN
1061-4036
e-ISSN
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Volume of the periodical
46
Issue of the periodical within the volume
8
Country of publishing house
US - UNITED STATES
Number of pages
11
Pages from-to
826-836
UT code for WoS article
000339704400010
EID of the result in the Scopus database
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