Evidence map›Paper›PMID 28747224›Full record

ArticleEpigenetics & chromatin2017

Regions of common inter-individual DNA methylation differences in human monocytes: genetic basis and potential function.

Christopher Schröder, Elsa Leitão, Stefan Wallner, Gerd Schmitz, Ludger Klein-Hitpass, Anupam Sinha, Karl-Heinz Jöckel, Stefanie Heilmann-Heimbach, Per Hoffmann, Markus M Nöthen and 4 more

Open access · goldAbstract read
In one paragraph

Article in Epigenetics & chromatin, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.

0numbers the graph read from it
0cells of the map it votes in
14citing papers in PubMed
1.9field-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

14 citing papers in PubMed, 36 citations in OpenAlex.

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  5. Epigenetic analyses in forensic medicine: future and challenges.International journal of legal medicine · 2024
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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

14 authors at 7 institutions in 2 countries.

Christopher SchröderGenome Informatics, Institute of Human Genetics, University of Duisburg-Essen, University Hospital Essen, Essen, Germany.
Elsa LeitãoInstitute of Human Genetics, University of Duisburg-Essen, University Hospital Essen, Hufelandstraße 55, 45147, Essen, Germany.
Stefan WallnerInstitute for Clinical Chemistry and Laboratory Medicine, University Hospital Regensburg, Regensburg, Germany.
Gerd SchmitzInstitute for Clinical Chemistry and Laboratory Medicine, University Hospital Regensburg, Regensburg, Germany.
Ludger Klein-HitpassInstitute of Cell Biology, University Hospital Essen, Essen, Germany.
Anupam SinhaInstitute of Clinical Molecular Biology, Kiel University, University Hospital, Kiel, Germany.
Karl-Heinz JöckelInstitute of Medical Informatics, Biometry and Epidemiology, University Hospital Essen, Essen, Germany.
Stefanie Heilmann-HeimbachInstitute of Human Genetics, School of Medicine, University Hospital of Bonn, University of Bonn, Bonn, Germany.
Per HoffmannInstitute of Human Genetics, School of Medicine, University Hospital of Bonn, University of Bonn, Bonn, Germany.
Markus M NöthenInstitute of Human Genetics, School of Medicine, University Hospital of Bonn, University of Bonn, Bonn, Germany.
Michael SteffensResearch Division, Federal Institute for Drugs and Medical Devices (BfArM), Bonn, Germany.
Peter EbertMax Planck Institute for Informatics, Saarland Informatics Campus, Saarbrücken, Germany.
Sven RahmannGenome Informatics, Institute of Human Genetics, University of Duisburg-Essen, University Hospital Essen, Essen, Germany.
Bernhard HorsthemkeInstitute of Human Genetics, University of Duisburg-Essen, University Hospital Essen, Hufelandstraße 55, 45147, Essen, Germany. bernhard.horsthemke@uni-due.de.ORCID 0000-0002-8598-8147
Essen University Hospital · DEUniversity of Bonn · DEUniversity Hospital Regensburg · DEChristian-Albrechts-Universität zu Kiel · DEFederal Institute for Drugs and Medical Devices · DEInstitut für Medizinische Informatik, Biometrie und Epidemiologie · DEMax Planck Institute for Informatics · DE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundThere is increasing evidence for inter-individual methylation differences at CpG dinucleotides in the human genome, but the regional extent and function of these differences have not yet been studied in detail. For identifying regions of common methylation differences, we used whole genome bisulfite sequencing data of monocytes from five donors and a novel bioinformatic strategy.

resultsWe identified 157 differentially methylated regions (DMRs) with four or more CpGs, almost none of which has been described before. The DMRs fall into different chromatin states, where methylation is inversely correlated with active, but not repressive histone marks. However, methylation is not correlated with the expression of associated genes. High-resolution single nucleotide polymorphism (SNP) genotyping of the five donors revealed evidence for a role of cis-acting genetic variation in establishing methylation patterns. To validate this finding in a larger cohort, we performed genome-wide association studies (GWAS) using SNP genotypes and 450k array methylation data from blood samples of 1128 individuals. Only 30/157 (19%) DMRs include at least one 450k CpG, which shows that these arrays miss a large proportion of DNA methylation variation. In most cases, the GWAS peak overlapped the CpG position, and these regions are enriched for CREB group, NF-1, Sp100 and CTCF binding motifs. In two cases, there was tentative evidence for a trans-effect by KRAB zinc finger proteins.

conclusionsAllele-specific DNA methylation occurs in discrete chromosomal regions and is driven by genetic variation in cis and trans, but in general has little effect on gene expression.

Indexed as

DNA MethylationNucleotide MotifsPolymorphism, Single NucleotideCells, CulturedChromatinCpG IslandsHumansMonocytesChromatinAllele-specific methylationDifferentially methylated regionsDNA methylationGenome-wide association studyHaplotypeInter-individual variabilityMethylation arraySNP genotypingWhole genome bisulfite sequencing

Identifiers

PMID28747224
PMCPMC5530492
OpenAlexW2736510301

What OpenQuestion holds

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LicenceCC BY
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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.