Evidence map›Paper›PMID 27877193›Full record

ArticleFrontiers in genetics2016

A Combined Linkage and Exome Sequencing Analysis for Electrocardiogram Parameters in the Erasmus Rucphen Family Study.

Claudia T Silva, Irina V Zorkoltseva, Najaf Amin, Ayşe Demirkan, Elisabeth M van Leeuwen, Jan A Kors, Marten van den Berg, Bruno H Stricker, André G Uitterlinden, Anatoly V Kirichenko and 6 more

Open access · goldAbstract read
In one paragraph

Article in Frontiers in genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.3field-weighted citation impact, top 25% 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

4 citing papers in PubMed, 6 citations in OpenAlex.

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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

16 authors at 4 institutions in 3 countries.

Claudia T SilvaGenetic Epidemiology Unit, Department of Epidemiology, Erasmus University Medical CenterRotterdam, Netherlands; Doctoral Program in Biomedical Sciences, Universidad del RosarioBogotá, Colombia; GENIUROS Group, Genetics and Genomics Research Center CIGGUR, School of Medicine and Health Sciences, Universidad del RosarioBogotá, Colombia.
Irina V ZorkoltsevaInstitute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences Novosibirsk, Russia.
Najaf AminGenetic Epidemiology Unit, Department of Epidemiology, Erasmus University Medical Center Rotterdam, Netherlands.
Ayşe DemirkanGenetic Epidemiology Unit, Department of Epidemiology, Erasmus University Medical CenterRotterdam, Netherlands; Department of Human Genetics, Leiden University Medical CenterLeiden, Netherlands.
Elisabeth M van LeeuwenGenetic Epidemiology Unit, Department of Epidemiology, Erasmus University Medical Center Rotterdam, Netherlands.
Jan A KorsDepartment of Medical Informatics, Erasmus University Medical Center Rotterdam, Netherlands.
Marten van den BergDepartment of Medical Informatics, Erasmus University Medical Center Rotterdam, Netherlands.
Bruno H StrickerDepartment of Epidemiology, Erasmus University Medical CenterRotterdam, Netherlands; Department of Internal Medicine, Erasmus University Medical CenterRotterdam, Netherlands; Inspectorate of Health CareThe Hague, Netherlands.
André G UitterlindenDepartment of Internal Medicine, Erasmus University Medical Center Rotterdam, Netherlands.
Anatoly V KirichenkoInstitute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences Novosibirsk, Russia.
Jacqueline C M WittemanDepartment of Epidemiology, Erasmus University Medical Center Rotterdam, Netherlands.
Rob WillemsenDepartment of Clinical Genetics, Erasmus University Medical Center Rotterdam, Netherlands.
Ben A OostraGenetic Epidemiology Unit, Department of Epidemiology, Erasmus University Medical CenterRotterdam, Netherlands; Center for Medical Systems BiologyLeiden, Netherlands.
Tatiana I AxenovichInstitute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences Novosibirsk, Russia.
Cornelia M van DuijnGenetic Epidemiology Unit, Department of Epidemiology, Erasmus University Medical CenterRotterdam, Netherlands; Center for Medical Systems BiologyLeiden, Netherlands.
Aaron IsaacsGenetic Epidemiology Unit, Department of Epidemiology, Erasmus University Medical CenterRotterdam, Netherlands; Center for Medical Systems BiologyLeiden, Netherlands.
Erasmus MC · NLInstitute of Cytology and Genetics · RUDutch Health Care Inspectorate · NLLeiden University Medical Center · NL

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Electrocardiogram (ECG) measurements play a key role in the diagnosis and prediction of cardiac arrhythmias and sudden cardiac death. ECG parameters, such as the PR, QRS, and QT intervals, are known to be heritable and genome-wide association studies of these phenotypes have been successful in identifying common variants; however, a large proportion of the genetic variability of these traits remains to be elucidated. The aim of this study was to discover loci potentially harboring rare variants utilizing variance component linkage analysis in 1547 individuals from a large family-based study, the Erasmus Rucphen Family Study (ERF). Linked regions were further explored using exome sequencing. Five suggestive linkage peaks were identified: two for QT interval (1q24, LOD = 2.63; 2q34, LOD = 2.05), one for QRS interval (1p35, LOD = 2.52) and two for PR interval (9p22, LOD = 2.20; 14q11, LOD = 2.29). Fine-mapping using exome sequence data identified a C > G missense variant (c.713C > G, p.Ser238Cys) in the

Indexed as

electrocardiographyepidemiologyexomegeneticslinkage

Identifiers

PMID27877193
PMCPMC5099142
OpenAlexW2554337051

What OpenQuestion holds

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LicenceCC BY
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Registered trials

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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.