Evidence map›Paper›PMID 30514905›Full record

ArticleScientific reports2018

Identification of 55,000 Replicated DNA Methylation QTL.

Allan F McRae, Riccardo E Marioni, Sonia Shah, Jian Yang, Joseph E Powell, Sarah E Harris, Jude Gibson, Anjali K Henders, Lisa Bowdler, Jodie N Painter and 7 more

Open access · goldAbstract read
In one paragraph

Article in Scientific reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 231 papers, 11 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
231citing papers in PubMed, 11 pooled it
28.4field-weighted citation impact, top 1% 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

231 citing papers in PubMed, 11 syntheses or guidelines pooled it, 352 citations in OpenAlex.

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171 more citing papers are in PubMed but not listed here.

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

17 authors at 6 institutions in 2 countries.

Allan F McRaeThe Institute for Molecular Bioscience, The University of Queensland, Brisbane, 4072, QLD, Australia. a.mcrae@uq.edu.au.ORCID http://orcid.org/0000-0001-5286-5485
Riccardo E MarioniMedical Genetics Section, Centre for Genomic and Experimental Medicine, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, EH4 2XU, UK.
Sonia ShahThe Institute for Molecular Bioscience, The University of Queensland, Brisbane, 4072, QLD, Australia.
Jian YangThe Institute for Molecular Bioscience, The University of Queensland, Brisbane, 4072, QLD, Australia.ORCID http://orcid.org/0000-0003-2001-2474
Joseph E PowellThe Institute for Molecular Bioscience, The University of Queensland, Brisbane, 4072, QLD, Australia.
Sarah E HarrisMedical Genetics Section, Centre for Genomic and Experimental Medicine, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, EH4 2XU, UK.
Jude GibsonEdinburgh Clinical Research Facility, University of Edinburgh, Western General Hospital, Crewe Road, Edinburgh, EH4 2XU, UK.
Anjali K HendersThe Institute for Molecular Bioscience, The University of Queensland, Brisbane, 4072, QLD, Australia.
Lisa BowdlerQIMR Berghofer Medical Research Institute, Brisbane, 4029, QLD, Australia.
Jodie N PainterQIMR Berghofer Medical Research Institute, Brisbane, 4029, QLD, Australia.
Lee MurphyEdinburgh Clinical Research Facility, University of Edinburgh, Western General Hospital, Crewe Road, Edinburgh, EH4 2XU, UK.ORCID http://orcid.org/0000-0001-6467-7449
Nicholas G MartinQIMR Berghofer Medical Research Institute, Brisbane, 4029, QLD, Australia.ORCID http://orcid.org/0000-0003-4069-8020
John M StarrCentre for Cognitive Ageing and Cognitive Epidemiology, University of Edinburgh, 7 George Square, Edinburgh, EH8 9JZ, UK.
Naomi R WrayThe Institute for Molecular Bioscience, The University of Queensland, Brisbane, 4072, QLD, Australia.
Ian J DearyCentre for Cognitive Ageing and Cognitive Epidemiology, University of Edinburgh, 7 George Square, Edinburgh, EH8 9JZ, UK.
Peter M VisscherThe Institute for Molecular Bioscience, The University of Queensland, Brisbane, 4072, QLD, Australia.
Grant W MontgomeryThe Institute for Molecular Bioscience, The University of Queensland, Brisbane, 4072, QLD, Australia.ORCID http://orcid.org/0000-0002-4140-8139
The University of Queensland · AUQIMR Berghofer Medical Research Institute · AUInstitute of Genetics and Cancer · GBWestern General Hospital · GBAlzheimer Scotland · GBUniversity of Edinburgh · GB

Funding

Biotechnology and Biological Sciences Research Council BB/F019394/1Department of Health | National Health and Medical Research Council (NHMRC) APP1010374Department of Health | National Health and Medical Research Council (NHMRC) APP1046880Department of Health | National Health and Medical Research Council (NHMRC) APP1050218Department of Health | National Health and Medical Research Council (NHMRC) APP1078037Department of Health | National Health and Medical Research Council (NHMRC) APP1078399Department of Health | National Health and Medical Research Council (NHMRC) APP1078901Department of Health | National Health and Medical Research Council (NHMRC) APP1083656Department of Health | National Health and Medical Research Council (NHMRC) APP1107599Department of Health | National Health and Medical Research Council (NHMRC) APP3893891Department of Health | National Health and Medical Research Council (NHMRC) APP389891Department of Health | National Health and Medical Research Council (NHMRC) APP496667Medical Research Council MR/K026992/1Wellcome Trust
6 · The paper itself

Abstract

DNA methylation plays an important role in the regulation of transcription. Genetic control of DNA methylation is a potential candidate for explaining the many identified SNP associations with disease that are not found in coding regions. We replicated 52,916 cis and 2,025 trans DNA methylation quantitative trait loci (mQTL) using methylation from whole blood measured on Illumina HumanMethylation450 arrays in the Brisbane Systems Genetics Study (n = 614 from 177 families) and the Lothian Birth Cohorts of 1921 and 1936 (combined n = 1366). The trans mQTL SNPs were found to be over-represented in 1 Mbp subtelomeric regions, and on chromosomes 16 and 19. There was a significant increase in trans mQTL DNA methylation sites in upstream and 5' UTR regions. The genetic heritability of a number of complex traits and diseases was partitioned into components due to mQTL and the remainder of the genome. Significant enrichment was observed for height (p = 2.1 × 10

Indexed as

DNA MethylationEpigenesis, GeneticQuantitative Trait LociGenetic Association StudiesHumansPolymorphism, Single Nucleotide

Identifiers

PMID30514905
PMCPMC6279736
OpenAlexW2949437525

What OpenQuestion holds

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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.