Evidence map›Paper›PMID 18317464›Full record

ArticleMolecular psychiatry2009

DISC1 association, heterogeneity and interplay in schizophrenia and bipolar disorder.

W Hennah, P Thomson, A McQuillin, N Bass, A Loukola, A Anjorin, D Blackwood, D Curtis, I J Deary, S E Harris and 17 more

Abstract read
PubMed Publisher
In one paragraph

Article in Molecular psychiatry, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 68 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
68citing papers in PubMed, 3 pooled it
9.2field-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

68 citing papers in PubMed, 3 syntheses or guidelines pooled it, 163 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Pooled it
  4. Excess Wnt in neurological disease.The Biochemical journal · 2025
    Review
  5. Review
  6. Article
  7. Article
  8. Markers of Schizophrenia-A Critical Narrative Update.Journal of clinical medicine · 2022
    Review
  9. Article
  10. Review
  11. Mutations in DISC1 alter IPNeuronal signaling · 2021
    Review
  12. Review
  13. Review
  14. Review
  15. Article
  16. Review
  17. Article
  18. TheOpen biology · 2017
    Article
  19. Article
  20. Review

8 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

27 authors at 10 institutions in 4 countries.

W HennahMedical Genetics Section, University of Edinburgh, Edinburgh EH4 2XU, Scotland. william.hennah@ed.ac.uk
P Thomson
A McQuillin
N Bass
A Loukola
A Anjorin
D Blackwood
D Curtis
I J Deary
S E Harris
E T Isometsä
J Lawrence
J Lönnqvist
W Muir
A Palotie
T Partonen
T Paunio
E Pylkkö
M Robinson
P Soronen
K Suominen
J Suvisaari
S Thirumalai
D St Clair
H Gurling
L Peltonen
D Porteous
University of Edinburgh · GBUniversity College London · GBFinnish Foundation for Alcohol Studies · FIInstitute for Molecular Medicine Finland · FIInstitute of Medical Sciences · INHelsinki University Hospital · FIBroad Institute · USJorvi Hospital · FIQueen Mary University of London · GBUniversity of Helsinki · FI

Funding

Biotechnology and Biological Sciences Research CouncilChief Scientist Office CZB/4/505Chief Scientist Office ETM/55Medical Research Council G0100266Medical Research Council G0500791Medical Research Council G0701007
6 · The paper itself

Abstract

Disrupted in schizophrenia 1 (DISC1) has been associated with risk of schizophrenia, schizoaffective disorder, bipolar disorder, major depression, autism and Asperger syndrome, but apart from in the original translocation family, true causal variants have yet to be confirmed. Here we report a harmonized association study for DISC1 in European cohorts of schizophrenia and bipolar disorder. We identify regions of significant association, demonstrate allele frequency heterogeneity and provide preliminary evidence for modifying interplay between variants. Whereas no associations survived permutation analysis in the combined data set, significant corrected associations were observed for bipolar disorder at rs1538979 in the Finnish cohorts (uncorrected P=0.00020; corrected P=0.016; odds ratio=2.73+/-95% confidence interval (CI) 1.42-5.27) and at rs821577 in the London cohort (uncorrected P=0.00070; corrected P=0.040; odds ratio=1.64+/-95% CI 1.23-2.19). The rs821577 single nucleotide polymorphism (SNP) showed evidence for increased risk within the combined European cohorts (odds ratio=1.27+/-95% CI 1.07-1.51), even though significant corrected association was not detected (uncorrected P=0.0058; corrected P=0.28). After conditioning the European data set on the two risk alleles, reanalysis revealed a third significant SNP association (uncorrected P=0.00050; corrected P=0.025). This SNP showed evidence for interplay, either increasing or decreasing risk, dependent upon the presence or absence of rs1538979 or rs821577. These findings provide further support for the role of DISC1 in psychiatric illness and demonstrate the presence of locus heterogeneity, with the effect that clinically relevant genetic variants may go undetected by standard analysis of combined cohorts.

Indexed as

Genetic Predisposition to DiseasePolymorphism, Single NucleotideBipolar DisorderCase-Control StudiesCohort StudiesEuropeFemaleGene FrequencyGenotypeHumansInternational CooperationMaleNerve Tissue ProteinsNeuropsychological TestsOdds RatioPsychiatric Status Rating ScalesDISC1 protein, humanNerve Tissue Proteins

Identifiers

PMID18317464
OpenAlexW2048619991

What OpenQuestion holds

Textmetadata
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.