dc.contributor |
Háskóli Íslands |
dc.contributor |
University of Iceland |
dc.contributor.author |
Norland, Kristján |
dc.contributor.author |
Sveinbjornsson, Gardar |
dc.contributor.author |
Thorolfsdottir, Rosa B |
dc.contributor.author |
Davidsson, Olafur B. |
dc.contributor.author |
Tragante, Vinicius |
dc.contributor.author |
Rajamani, Sridharan |
dc.contributor.author |
Helgadottir, Anna |
dc.contributor.author |
Grétarsdóttir, Sólveig |
dc.contributor.author |
van Setten, Jessica |
dc.contributor.author |
Asselbergs, Folkert W. |
dc.contributor.author |
Sverrisson, Jon Th. |
dc.contributor.author |
Stephensen, Sigurdur Sverrir |
dc.contributor.author |
Óskarsson, Gylfi |
dc.contributor.author |
Sigurðsson, Emil Lárus |
dc.contributor.author |
Andersen, Karl |
dc.contributor.author |
Danielsen, Ragnar |
dc.contributor.author |
Thorgeirsson, Gudmundur |
dc.contributor.author |
Thorsteinsdottir, Unnur |
dc.contributor.author |
Arnar, Davíð O. |
dc.contributor.author |
sulem, patrick |
dc.contributor.author |
Holm, Hilma |
dc.contributor.author |
Gudbjartsson, Daniel |
dc.contributor.author |
Stefansson, Kari |
dc.date.accessioned |
2020-02-11T14:12:24Z |
dc.date.available |
2020-02-11T14:12:24Z |
dc.date.issued |
2019-10-22 |
dc.identifier.citation |
Norland, K., Sveinbjornsson, G., Thorolfsdottir, R.B. et al. Sequence variants with large effects on cardiac electrophysiology and disease. Nat Commun 10, 4803 (2019). https://doi.org/10.1038/s41467-019-12682-9 |
dc.identifier.issn |
2041-1723 |
dc.identifier.uri |
https://hdl.handle.net/20.500.11815/1525 |
dc.description |
Publisher's version (útgefin grein). |
dc.description.abstract |
Features of the QRS complex of the electrocardiogram, reflecting ventricular depolarisation, associate with various physiologic functions and several pathologic conditions. We test 32.5 million variants for association with ten measures of the QRS complex in 12 leads, using 405,732 electrocardiograms from 81,192 Icelanders. We identify 190 associations at 130 loci, the majority of which have not been reported before, including associations with 21 rare or low-frequency coding variants. Assessment of genes expressed in the heart yields an additional 13 rare QRS coding variants at 12 loci. We find 51 unreported associations between the QRS variants and echocardiographic traits and cardiovascular diseases, including atrial fibrillation, complete AV block, heart failure and supraventricular tachycardia. We demonstrate the advantage of in-depth analysis of the QRS complex in conjunction with other cardiovascular phenotypes to enhance our understanding of the genetic basis of myocardial mass, cardiac conduction and disease. |
dc.description.sponsorship |
We thank all study subjects for their valuable participation as well as our colleagues who
contributed to data collection, sample handling and genotyping. This research was
conducted using the UK Biobank Resource under Application Number 24711. |
dc.format.extent |
4803 |
dc.language.iso |
en |
dc.publisher |
Springer Science and Business Media LLC |
dc.relation.ispartofseries |
Nature Communications;10(1) |
dc.rights |
info:eu-repo/semantics/openAccess |
dc.subject |
Cardiology |
dc.subject |
Cardiovascular genetics |
dc.subject |
Genome-wide association studies |
dc.subject |
Quantitative trait |
dc.subject |
Hjartasjúkdómar |
dc.subject |
Blóðrásarsjúkdómar |
dc.subject |
Erfðarannsóknir |
dc.subject |
Megindlegar rannsóknir |
dc.title |
Sequence variants with large effects on cardiac electrophysiology and disease |
dc.type |
info:eu-repo/semantics/article |
dcterms.license |
Open Access. This article is licensed under a Creative Commons
Attribution 4.0 International License, which permits use, sharing,
adaptation, distribution and reproduction in any medium or format, as long as you give
appropriate credit to the original author(s) and the source, provide a link to the Creative
Commons license, and indicate if changes were made. The images or other third party
material in this article are included in the article’s Creative Commons license, unless
indicated otherwise in a credit line to the material. If material is not included in the
article’s Creative Commons license and your intended use is not permitted by statutory
regulation or exceeds the permitted use, you will need to obtain permission directly from
the copyright holder. To view a copy of this license, visit http://creativecommons.org/
licenses/by/4.0/. |
dc.description.version |
Peer Reviewed |
dc.identifier.journal |
Nature Communications |
dc.identifier.doi |
10.1038/s41467-019-12682-9 |
dc.contributor.department |
Læknadeild (HÍ) |
dc.contributor.department |
Faculty of Medicine (UI) |
dc.contributor.school |
School of Engineering and Natural Sciences (UI) |
dc.contributor.school |
Verkfræði- og náttúruvísindasvið (HÍ) |
dc.contributor.school |
Heilbrigðisvísindasvið (HÍ) |
dc.contributor.school |
School of Health Sciences (UI) |