Evidence map›Paper›PMID 29555928›Full record

ArticleNPJ schizophrenia2018

Altered DNA methylation associated with a translocation linked to major mental illness.

Daniel L McCartney, Rosie M Walker, Stewart W Morris, Susan M Anderson, Barbara J Duff, Riccardo E Marioni, J Kirsty Millar, Shane E McCarthy, Niamh M Ryan, Stephen M Lawrie and 7 more

Open access · goldAbstract read
In one paragraph

Article in NPJ schizophrenia, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
0.8field-weighted citation impact, top 28% 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

7 citing papers in PubMed, 15 citations in OpenAlex.

  1. Review
  2. Article
  3. Article
  4. Article
  5. Review
  6. Article
  7. Differentially methylated regions in bipolar disorder and suicide.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2019
    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

17 authors at 3 institutions in 2 countries.

Daniel L McCartneyMedical Genetics Section, Centre for Genomic and Experimental Medicine, Institute of Genetics and Molecular Medicine, Western General Hospital, University of Edinburgh, Crewe Road, Edinburgh, EH4 2XU, UK.
Rosie M WalkerMedical Genetics Section, Centre for Genomic and Experimental Medicine, Institute of Genetics and Molecular Medicine, Western General Hospital, University of Edinburgh, Crewe Road, Edinburgh, EH4 2XU, UK.
Stewart W MorrisMedical Genetics Section, Centre for Genomic and Experimental Medicine, Institute of Genetics and Molecular Medicine, Western General Hospital, University of Edinburgh, Crewe Road, Edinburgh, EH4 2XU, UK.
Susan M AndersonMedical Genetics Section, Centre for Genomic and Experimental Medicine, Institute of Genetics and Molecular Medicine, Western General Hospital, University of Edinburgh, Crewe Road, Edinburgh, EH4 2XU, UK.
Barbara J DuffDivision of Psychiatry, Royal Edinburgh Hospital, University of Edinburgh, Edinburgh, EH10 5HF, UK.
Riccardo E MarioniMedical Genetics Section, Centre for Genomic and Experimental Medicine, Institute of Genetics and Molecular Medicine, Western General Hospital, University of Edinburgh, Crewe Road, Edinburgh, EH4 2XU, UK.
J Kirsty MillarMedical Genetics Section, Centre for Genomic and Experimental Medicine, Institute of Genetics and Molecular Medicine, Western General Hospital, University of Edinburgh, Crewe Road, Edinburgh, EH4 2XU, UK.
Shane E McCarthyStanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, Cold Spring Harbor, NY, USA.
Niamh M RyanMedical Genetics Section, Centre for Genomic and Experimental Medicine, Institute of Genetics and Molecular Medicine, Western General Hospital, University of Edinburgh, Crewe Road, Edinburgh, EH4 2XU, UK.
Stephen M LawrieDivision of Psychiatry, Royal Edinburgh Hospital, University of Edinburgh, Edinburgh, EH10 5HF, UK.ORCID http://orcid.org/0000-0002-2444-5675
Andrew R WatsonDivision of Psychiatry, Royal Edinburgh Hospital, University of Edinburgh, Edinburgh, EH10 5HF, UK.
Douglas H R BlackwoodDivision of Psychiatry, Royal Edinburgh Hospital, University of Edinburgh, Edinburgh, EH10 5HF, UK.
Pippa A ThomsonMedical Genetics Section, Centre for Genomic and Experimental Medicine, Institute of Genetics and Molecular Medicine, Western General Hospital, University of Edinburgh, Crewe Road, Edinburgh, EH4 2XU, UK.ORCID http://orcid.org/0000-0002-4208-5271
Andrew M McIntoshMedical Genetics Section, Centre for Genomic and Experimental Medicine, Institute of Genetics and Molecular Medicine, Western General Hospital, University of Edinburgh, Crewe Road, Edinburgh, EH4 2XU, UK.ORCID http://orcid.org/0000-0002-0198-4588
W Richard McCombieStanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, Cold Spring Harbor, NY, USA.
David J PorteousMedical Genetics Section, Centre for Genomic and Experimental Medicine, Institute of Genetics and Molecular Medicine, Western General Hospital, University of Edinburgh, Crewe Road, Edinburgh, EH4 2XU, UK.
Kathryn L EvansMedical Genetics Section, Centre for Genomic and Experimental Medicine, Institute of Genetics and Molecular Medicine, Western General Hospital, University of Edinburgh, Crewe Road, Edinburgh, EH4 2XU, UK. Kathy.Evans@igmm.ed.ac.uk.
Western General Hospital · GBRoyal Edinburgh Hospital · GBCold Spring Harbor Laboratory · US

Funding

Testing the DISC1 pathway for functional genetic variation and epistasis in majorR01MH102068 · NIMH · COLD SPRING HARBOR LABORATORY · PI MCCOMBIE, WILLIAM RICHARD, PORTEOUS, DAVID J · 2013 to 2015
$2.0M
Chief Scientist Office SCD/12Medical Research Council G0902166Medical Research Council MR/J004367/1Medical Research Council MR/K026992/1National Centre for the Replacement, Refinement and Reduction of Animals in Research NC/C011202/1NIMH NIH HHS R01 MH102068Wellcome Trust
6 · The paper itself

Abstract

Recent work has highlighted a possible role for altered epigenetic modifications, including differential DNA methylation, in susceptibility to psychiatric illness. Here, we investigate blood-based DNA methylation in a large family where a balanced translocation between chromosomes 1 and 11 shows genome-wide significant linkage to psychiatric illness. Genome-wide DNA methylation was profiled in whole-blood-derived DNA from 41 individuals using the Infinium HumanMethylation450 BeadChip (Illumina Inc., San Diego, CA). We found significant differences in DNA methylation when translocation carriers (n = 17) were compared to related non-carriers (n = 24) at 13 loci. All but one of the 13 significant differentially methylated positions (DMPs) mapped to the regions surrounding the translocation breakpoints. Methylation levels of five DMPs were associated with genotype at SNPs in linkage disequilibrium with the translocation. Two of the five genes harbouring significant DMPs, DISC1 and DUSP10, have been previously shown to be differentially methylated in schizophrenia. Gene Ontology analysis revealed enrichment for terms relating to neuronal function and neurodevelopment among the genes harbouring the most significant DMPs. Differentially methylated region (DMR) analysis highlighted a number of genes from the MHC region, which has been implicated in psychiatric illness previously through genetic studies. We show that inheritance of a translocation linked to major mental illness is associated with differential DNA methylation at loci implicated in neuronal development/function and in psychiatric illness. As genomic rearrangements are over-represented in individuals with psychiatric illness, such analyses may be valuable more widely in the study of these conditions.

Identifiers

PMID29555928
PMCPMC5859082
OpenAlexW2794592529

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.