Evidence map›Paper›PMID 30681347›Full record

ArticleCirculation. Genomic and precision medicine2019

Integrative Functional Annotation of 52 Genetic Loci Influencing Myocardial Mass Identifies Candidate Regulatory Variants and Target Genes.

Daiane Hemerich, Jiayi Pei, Magdalena Harakalova, Jessica van Setten, Sander Boymans, Bas J Boukens, Igor R Efimov, Michelle Michels, Jolanda van der Velden, Aryan Vink and 6 more

Open access · bronzeAbstract read
In one paragraph

Article in Circulation. Genomic and precision medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
1.8field-weighted citation impact, top 14% 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

5 citing papers in PubMed, 13 citations in OpenAlex.

  1. Article
  2. Article
  3. Panomics: New Databases for Advancing Cardiology.Frontiers in cardiovascular medicine · 2021
    Review
  4. Review
  5. Article
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 12 institutions in 6 countries.

Daiane HemerichDepartment of Cardiology (D.H., M.H., J.v.S., V.T., F.W.A.), UMC Utrecht, Utrecht University, The Netherlands.
Jiayi PeiCAPES Foundation, Ministry of Education of Brazil, Brasília (D.H.).
Magdalena HarakalovaDepartment of Cardiology (D.H., M.H., J.v.S., V.T., F.W.A.), UMC Utrecht, Utrecht University, The Netherlands.
Jessica van SettenDepartment of Cardiology (D.H., M.H., J.v.S., V.T., F.W.A.), UMC Utrecht, Utrecht University, The Netherlands.
Sander BoymansDepartment of Genetics, Center for Molecular Medicine, Cancer Genomics Netherlands (S.B.), UMC Utrecht.
Bas J BoukensDepartment of Medical Biology, Academic Medical Center, Amsterdam, The Netherlands (B.J.B.).
Igor R EfimovDepartment of Biomedical Engineering, The George Washington University, Washington, DC (I.R.E.).
Michelle MichelsDepartment of Cardiology, Erasmus MC, Rotterdam, The Netherlands (M. Michels).
Jolanda van der VeldenDepartment of Physiology, Amsterdam Cardiovascular Sciences, Amsterdam University Medical Center (J.v.d.V.).
Aryan VinkDepartment of Pathology (A.V.), UMC Utrecht, Utrecht University, The Netherlands.
Caroline ChengDepartment of Nephrology and Hypertension (J.P., C.C.), UMC Utrecht.
Pim van der HarstDepartment of Cardiology, UMC Groningen, NL (P.v.d.H.).
Jason H MooreDepartment of Biostatistics and Epidemiology, Institute for Biomedical Informatics, University of Pennsylvania, PA (J.H.M.).
Michal MokryDepartment of Pediatrics, Wilhelmina Children's Hospital, Utrecht (M. Mokry.).
Vinicius TraganteDepartment of Cardiology (D.H., M.H., J.v.S., V.T., F.W.A.), UMC Utrecht, Utrecht University, The Netherlands.
Folkert W AsselbergsDepartment of Cardiology (D.H., M.H., J.v.S., V.T., F.W.A.), UMC Utrecht, Utrecht University, The Netherlands.
Utrecht University · NLAmsterdam UMC Location University of Amsterdam · NLAmsterdam UMC Location Vrije Universiteit Amsterdam · NLCancer Genomics Centre · NLChr. Michelsen Institute · NODialyse Centrum Groningen · NLGeorge Washington University · USHypertension Institute · USInstitute for Medical Informatics and Biostatistics · CHMinistério da Saúde · BRUniversity of Applied Sciences Utrecht · NLWilhelmina Children's Hospital · NL

Funding

Bioinformatics Strategies for Genome-Wide Association StudiesR01LM010098 · NLM · UNIVERSITY OF PENNSYLVANIA · PI MOORE, JASON H., WILLIAMS, SCOTT MATTHEW · 2009 to 2023
$5.1M
NLM NIH HHS R01 LM010098
6 · The paper itself

Abstract

backgroundRegulatory elements may be involved in the mechanisms by which 52 loci influence myocardial mass, reflected by abnormal amplitude and duration of the QRS complex on the ECG. Functional annotation thus far did not take into account how these elements are affected in disease context.

methodsWe generated maps of regulatory elements on hypertrophic cardiomyopathy patients (ChIP-seq N=14 and RNA-seq N=11) and nondiseased hearts (ChIP-seq N=4 and RNA-seq N=11). We tested enrichment of QRS-associated loci on elements differentially acetylated and directly regulating differentially expressed genes between hypertrophic cardiomyopathy patients and controls. We further performed functional annotation on QRS-associated loci using these maps of differentially active regulatory elements.

resultsRegions differentially affected in disease showed a stronger enrichment ( P=8.6×10

conclusionsOur results suggest differentially active regulatory elements between hypertrophic cardiomyopathy patients and controls can offer more insights into the mechanisms of QRS-associated loci than elements not affected by disease.

Indexed as

AcetylationAdolescentAdultCardiomyopathy, HypertrophicCarrier ProteinsCase-Control StudiesElectrocardiographyFemaleGenetic LociHumansMaleMiddle AgedMyocardiumMyosin Binding Protein CPolymorphism, Single NucleotidePromoter Regions, GeneticCarrier ProteinsMyosin Binding Protein Cacetylationcardiomyopathieselectrocardiographygeneticsheart failure

Identifiers

PMID30681347
PMCPMC6380958
OpenAlexW2915750168

What OpenQuestion holds

Textmetadata
LicenceTDM
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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.