Evidence map›Paper›PMID 23732877›Full record

ArticleMolecular psychiatry2014

708 Common and 2010 rare DISC1 locus variants identified in 1542 subjects: analysis for association with psychiatric disorder and cognitive traits.

P A Thomson, J S Parla, A F McRae, M Kramer, K Ramakrishnan, J Yao, D C Soares, S McCarthy, S W Morris, L Cardone and 17 more

Open access · hybridAbstract read
In one paragraph

Article in Molecular psychiatry, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
36citing papers in PubMed, 2 pooled it
4.5field-weighted citation impact, top 5% 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

36 citing papers in PubMed, 2 syntheses or guidelines pooled it, 64 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. The association between theArhiv za higijenu rada i toksikologiju · 2023
    Article
  4. The Hypothalamic-Pituitary-Gonadal Axis in Men with Schizophrenia.International journal of molecular sciences · 2023
    Review
  5. Article
  6. Article
  7. Article
  8. DISC1 Regulates Mitochondrial Trafficking in a Miro1-GTP-Dependent Manner.Frontiers in cell and developmental biology · 2020
    Article
  9. Article
  10. Article
  11. Article
  12. Article
  13. Review
  14. Article
  15. Toward the Language Oscillogenome.Frontiers in psychology · 2018
    Article
  16. Article
  17. Review
  18. Review
  19. Article
  20. 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

27 authors at 6 institutions in 4 countries.

P A Thomson1] Medical Genetics Section, University of Edinburgh Molecular Medicine Centre, MRC Institute of Genetics and Molecular Medicine, Western General Hospital, Edinburgh, UK [2] Centre for Cognitive Ageing and Cognitive Epidemiology, Edinburgh, UK.
J S ParlaStanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, Cold Spring Harbor, NY, USA.
A F McRaeUniversity of Queensland Diamantina Institute, The University of Queensland, Princess Alexandra Hospital, Brisbane, QLD, Australia.
M KramerStanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, Cold Spring Harbor, NY, USA.
K RamakrishnanMedical Genetics Section, University of Edinburgh Molecular Medicine Centre, MRC Institute of Genetics and Molecular Medicine, Western General Hospital, Edinburgh, UK.
J YaoStanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, Cold Spring Harbor, NY, USA.
D C SoaresMedical Genetics Section, University of Edinburgh Molecular Medicine Centre, MRC Institute of Genetics and Molecular Medicine, Western General Hospital, Edinburgh, UK.
S McCarthyStanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, Cold Spring Harbor, NY, USA.
S W MorrisMedical Genetics Section, University of Edinburgh Molecular Medicine Centre, MRC Institute of Genetics and Molecular Medicine, Western General Hospital, Edinburgh, UK.
L CardoneStanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, Cold Spring Harbor, NY, USA.
S CassMedical Genetics Section, University of Edinburgh Molecular Medicine Centre, MRC Institute of Genetics and Molecular Medicine, Western General Hospital, Edinburgh, UK.
E GhibanStanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, Cold Spring Harbor, NY, USA.
W Hennah1] Medical Genetics Section, University of Edinburgh Molecular Medicine Centre, MRC Institute of Genetics and Molecular Medicine, Western General Hospital, Edinburgh, UK [2] Institute for Molecular Medicine, Finland FIMM, University of Helsinki, Helsinki, Finland.
K L Evans1] Medical Genetics Section, University of Edinburgh Molecular Medicine Centre, MRC Institute of Genetics and Molecular Medicine, Western General Hospital, Edinburgh, UK [2] Centre for Cognitive Ageing and Cognitive Epidemiology, Edinburgh, UK.
D ReboliniStanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, Cold Spring Harbor, NY, USA.
J K MillarMedical Genetics Section, University of Edinburgh Molecular Medicine Centre, MRC Institute of Genetics and Molecular Medicine, Western General Hospital, Edinburgh, UK.
S E Harris1] Medical Genetics Section, University of Edinburgh Molecular Medicine Centre, MRC Institute of Genetics and Molecular Medicine, Western General Hospital, Edinburgh, UK [2] Centre for Cognitive Ageing and Cognitive Epidemiology, Edinburgh, UK.
J M StarrCentre for Cognitive Ageing and Cognitive Epidemiology, Edinburgh, UK.
D J MacIntyreDivision of Psychiatry, University of Edinburgh, Royal Edinburgh Hospital, Edinburgh, UK.
Generation Scotland
A M McIntoshDivision of Psychiatry, University of Edinburgh, Royal Edinburgh Hospital, Edinburgh, UK.
J D WatsonStanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, Cold Spring Harbor, NY, USA.
I J DearyCentre for Cognitive Ageing and Cognitive Epidemiology, Edinburgh, UK.
P M Visscher1] University of Queensland Diamantina Institute, The University of Queensland, Princess Alexandra Hospital, Brisbane, QLD, Australia [2] Queensland Brain Institute, The University of Queensland, Brisbane, QLD, Australia.
D H BlackwoodDivision of Psychiatry, University of Edinburgh, Royal Edinburgh Hospital, Edinburgh, UK.
W R McCombieStanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, Cold Spring Harbor, NY, USA.
D J Porteous1] Medical Genetics Section, University of Edinburgh Molecular Medicine Centre, MRC Institute of Genetics and Molecular Medicine, Western General Hospital, Edinburgh, UK [2] Centre for Cognitive Ageing and Cognitive Epidemiology, Edinburgh, UK.
Cold Spring Harbor Laboratory · USThe University of Queensland · AUWestern General Hospital · GBRoyal Edinburgh Hospital · GBAlzheimer Scotland · GBNHS Education for Scotland · GB

Funding

Biotechnology and Biological Sciences Research CouncilChief Scientist Office CZD/16/6/4Medical Research Council G0100266Medical Research Council G0700704Medical Research Council G0902166Medical Research Council MR/J004367/1Medical Research Council MR/K026992/1Wellcome Trust
6 · The paper itself

Abstract

A balanced t(1;11) translocation that transects the Disrupted in schizophrenia 1 (DISC1) gene shows genome-wide significant linkage for schizophrenia and recurrent major depressive disorder (rMDD) in a single large Scottish family, but genome-wide and exome sequencing-based association studies have not supported a role for DISC1 in psychiatric illness. To explore DISC1 in more detail, we sequenced 528 kb of the DISC1 locus in 653 cases and 889 controls. We report 2718 validated single-nucleotide polymorphisms (SNPs) of which 2010 have a minor allele frequency of <1%. Only 38% of these variants are reported in the 1000 Genomes Project European subset. This suggests that many DISC1 SNPs remain undiscovered and are essentially private. Rare coding variants identified exclusively in patients were found in likely functional protein domains. Significant region-wide association was observed between rs16856199 and rMDD (P=0.026, unadjusted P=6.3 × 10(-5), OR=3.48). This was not replicated in additional recurrent major depression samples (replication P=0.11). Combined analysis of both the original and replication set supported the original association (P=0.0058, OR=1.46). Evidence for segregation of this variant with disease in families was limited to those of rMDD individuals referred from primary care. Burden analysis for coding and non-coding variants gave nominal associations with diagnosis and measures of mood and cognition. Together, these observations are likely to generalise to other candidate genes for major mental illness and may thus provide guidelines for the design of future studies.

Indexed as

CognitionPolymorphism, Single NucleotideBipolar DisorderDNA Mutational AnalysisExonsFamilyGene FrequencyGenetic Predisposition to DiseaseHumansMajor Depressive DisorderMental DisordersNerve Tissue ProteinsPedigreeSchizophreniaScotlandWhite PeopleDISC1 protein, humanNerve Tissue Proteins

Identifiers

PMID23732877
PMCPMC4031635
OpenAlexW2128298058

What OpenQuestion holds

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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.