Evidence map›Paper›PMID 31641117›Full record

ArticleNature communications2019

Sequence variants with large effects on cardiac electrophysiology and disease.

Kristjan Norland, Gardar Sveinbjornsson, Rosa B Thorolfsdottir, Olafur B Davidsson, Vinicius Tragante, Sridharan Rajamani, Anna Helgadottir, Solveig Gretarsdottir, Jessica van Setten, Folkert W Asselbergs and 13 more

Open access · goldAbstract read
In one paragraph

Article in Nature communications, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
26citing papers in PubMed, 1 pooled it
4.1field-weighted citation impact, top 6% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

26 citing papers in PubMed, 1 synthesis or guideline pooled it, 47 citations in OpenAlex.

  1. Pooled it
  2. A frameshift variant inEuropean heart journal. Case reports · 2026
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

23 authors at 5 institutions in 4 countries.

Kristjan NorlanddeCODE genetics/Amgen Inc., Reykjavik, Iceland.
Gardar SveinbjornssondeCODE genetics/Amgen Inc., Reykjavik, Iceland.
Rosa B ThorolfsdottirdeCODE genetics/Amgen Inc., Reykjavik, Iceland.
Olafur B DavidssondeCODE genetics/Amgen Inc., Reykjavik, Iceland.
Vinicius TragantedeCODE genetics/Amgen Inc., Reykjavik, Iceland.
Sridharan RajamanideCODE genetics/Amgen Inc., Reykjavik, Iceland.
Anna HelgadottirdeCODE genetics/Amgen Inc., Reykjavik, Iceland.
Solveig GretarsdottirdeCODE genetics/Amgen Inc., Reykjavik, Iceland.
Jessica van SettenDepartment of Cardiology, Division Heart & Lungs, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
Folkert W AsselbergsDepartment of Cardiology, Division Heart & Lungs, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
Jon Th SverrissonDepartment of Internal Medicine, Akureyri Hospital, Eyrarlandsvegur, 600, Akureyri, Iceland.
Sigurdur S StephensenDepartment of Paediatric Cardiology, Children's Hospital, Landspitali-The National University Hospital of Iceland, Reykjavik, Iceland.
Gylfi OskarssonDepartment of Paediatric Cardiology, Children's Hospital, Landspitali-The National University Hospital of Iceland, Reykjavik, Iceland.
Emil L SigurdssonDepartment of Family Medicine, University of Iceland, Reykjavik, Iceland.
Karl AndersenDivision of Cardiology, Internal Medicine Services, Landspitali-The National University Hospital of Iceland, Reykjavik, Iceland.
Ragnar DanielsenDivision of Cardiology, Internal Medicine Services, Landspitali-The National University Hospital of Iceland, Reykjavik, Iceland.
Gudmundur ThorgeirssondeCODE genetics/Amgen Inc., Reykjavik, Iceland.
Unnur ThorsteinsdottirdeCODE genetics/Amgen Inc., Reykjavik, Iceland.
David O ArnardeCODE genetics/Amgen Inc., Reykjavik, Iceland.
Patrick SulemdeCODE genetics/Amgen Inc., Reykjavik, Iceland.
Hilma HolmdeCODE genetics/Amgen Inc., Reykjavik, Iceland.
Daniel F GudbjartssondeCODE genetics/Amgen Inc., Reykjavik, Iceland. Daniel.Gudbjartsson@decode.is.
Kari StefanssondeCODE genetics/Amgen Inc., Reykjavik, Iceland. kstefans@decode.is.ORCID http://orcid.org/0000-0003-1676-864X
deCODE Genetics (Iceland) · ISNational University Hospital of Iceland · ISUniversity of Iceland · ISUtrecht University · NLAkureyri Hospital · IS

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

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.

Indexed as

ElectrocardiographyAtrial FibrillationFemaleGene Expression RegulationGenetic VariationGenome-Wide Association StudyHeartHeart FailureHumansIcelandMaleProteinsTachycardia, SupraventricularProteins

Identifiers

PMID31641117
PMCPMC6805929
OpenAlexW2982196090

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.