Opin vísindi

Sequence variants with large effects on cardiac electrophysiology and disease

Sequence variants with large effects on cardiac electrophysiology and disease

Title: Sequence variants with large effects on cardiac electrophysiology and disease
Author: Norland, Kristján
Sveinbjornsson, Gardar   orcid.org/0000-0003-2429-9468
Thorolfsdottir, Rosa B   orcid.org/0000-0001-7475-0398
Davidsson, Olafur B.
Tragante, Vinicius
Rajamani, Sridharan
Helgadottir, Anna   orcid.org/0000-0002-1806-2467
Grétarsdóttir, Sólveig
van Setten, Jessica
Asselbergs, Folkert W.
... 13 more authors Show all authors
Date: 2019-10-22
Language: English
Scope: 4803
University/Institute: Háskóli Íslands
University of Iceland
School: School of Engineering and Natural Sciences (UI)
Verkfræði- og náttúruvísindasvið (HÍ)
Heilbrigðisvísindasvið (HÍ)
School of Health Sciences (UI)
Department: Læknadeild (HÍ)
Faculty of Medicine (UI)
Series: Nature Communications;10(1)
ISSN: 2041-1723
DOI: 10.1038/s41467-019-12682-9
Subject: Cardiology; Cardiovascular genetics; Genome-wide association studies; Quantitative trait; Hjartasjúkdómar; Blóðrásarsjúkdómar; Erfðarannsóknir; Megindlegar rannsóknir
URI: https://hdl.handle.net/20.500.11815/1525

Show full item record


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


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.


Publisher's version (útgefin grein).


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/.

Files in this item

This item appears in the following Collection(s)