Evidence map›Paper›PMID 29955040›Full record

ArticleNature communications2018

Promoter interactome of human embryonic stem cell-derived cardiomyocytes connects GWAS regions to cardiac gene networks.

Mun-Kit Choy, Biola M Javierre, Simon G Williams, Stephanie L Baross, Yingjuan Liu, Steven W Wingett, Artur Akbarov, Chris Wallace, Paula Freire-Pritchett, Peter J Rugg-Gunn and 3 more

Erratum issuedOpen access · goldAbstract read
In one paragraph

Article in Nature communications, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 44 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
44citing papers in PubMed, 1 pooled it
9.0field-weighted citation impact, top 2% 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

44 citing papers in PubMed, 1 synthesis or guideline pooled it, 77 citations in OpenAlex.

  1. Pooled it
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  14. In-Depth Genomic Analysis: The New Challenge in Congenital Heart Disease.International journal of molecular sciences · 2024
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4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

13 authors at 4 institutions in 3 countries.

Mun-Kit ChoyDivision of Cardiovascular Sciences, The University of Manchester, Manchester, M13 9PT, UK. munkit.choy@manchester.ac.uk.ORCID http://orcid.org/0000-0003-3998-0774
Biola M JavierreNuclear Dynamics Programme, The Babraham Institute, Cambridge, CB22 3AT, UK.
Simon G WilliamsDivision of Cardiovascular Sciences, The University of Manchester, Manchester, M13 9PT, UK.
Stephanie L BarossDivision of Cardiovascular Sciences, The University of Manchester, Manchester, M13 9PT, UK.
Yingjuan LiuDivision of Cardiovascular Sciences, The University of Manchester, Manchester, M13 9PT, UK.
Steven W WingettNuclear Dynamics Programme, The Babraham Institute, Cambridge, CB22 3AT, UK.
Artur AkbarovDivision of Cardiovascular Sciences, The University of Manchester, Manchester, M13 9PT, UK.
Chris WallaceMRC Biostatistics Unit, University of Cambridge, Cambridge, CB2 0SR, UK.ORCID http://orcid.org/0000-0001-9755-1703
Paula Freire-PritchettNuclear Dynamics Programme, The Babraham Institute, Cambridge, CB22 3AT, UK.
Peter J Rugg-GunnEpigenetics Programme, The Babraham Institute, Cambridge, CB22 3AT, UK.ORCID http://orcid.org/0000-0002-9601-5949
Mikhail SpivakovNuclear Dynamics Programme, The Babraham Institute, Cambridge, CB22 3AT, UK.ORCID http://orcid.org/0000-0002-0383-3943
Peter FraserNuclear Dynamics Programme, The Babraham Institute, Cambridge, CB22 3AT, UK. pfraser@bio.fsu.edu.ORCID http://orcid.org/0000-0002-0041-1227
Bernard D KeavneyDivision of Cardiovascular Sciences, The University of Manchester, Manchester, M13 9PT, UK. bernard.keavney@manchester.ac.uk.ORCID http://orcid.org/0000-0001-9573-0812
University of Manchester · GBBabraham Institute · GBFlorida State University · USUniversity of Cambridge · GB

Funding

British Heart Foundation RG/15/12/31616Medical Research Council MC_EX_MR/S300002/1Medical Research Council MC_UP_1302/5Medical Research Council MC_UU_00002/4Wellcome Trust
6 · The paper itself

Abstract

Long-range chromosomal interactions bring distal regulatory elements and promoters together to regulate gene expression in biological processes. By performing promoter capture Hi-C (PCHi-C) on human embryonic stem cell-derived cardiomyocytes (hESC-CMs), we show that such promoter interactions are a key mechanism by which enhancers contact their target genes after hESC-CM differentiation from hESCs. We also show that the promoter interactome of hESC-CMs is associated with expression quantitative trait loci (eQTLs) in cardiac left ventricular tissue; captures the dynamic process of genome reorganisation after hESC-CM differentiation; overlaps genome-wide association study (GWAS) regions associated with heart rate; and identifies new candidate genes in such regions. These findings indicate that regulatory elements in hESC-CMs identified by our approach control gene expression involved in ventricular conduction and rhythm of the heart. The study of promoter interactions in other hESC-derived cell types may be of utility in functional investigation of GWAS-associated regions.

Indexed as

Gene Regulatory NetworksPromoter Regions, GeneticActininCalpainCell DifferentiationCell LineEnhancer Elements, GeneticGenome, HumanGenome-Wide Association StudyHeart Conduction SystemHeart RateHeart VentriclesHistonesHuman Embryonic Stem CellsHumansMyocytes, CardiacActininACTN4 protein, humanCalpainCAPN12 protein, humanHistonesProtein Isoforms

Identifiers

PMID29955040
PMCPMC6023870
OpenAlexW2809583183

What OpenQuestion holds

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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.