Evidence map›Paper›PMID 19414483›Full record

SynthesisHuman molecular genetics2009

The DISC locus and schizophrenia: evidence from an association study in a central European sample and from a meta-analysis across different European populations.

Johannes Schumacher, Gonzalo Laje, Rami Abou Jamra, Tim Becker, Thomas W Mühleisen, Catalina Vasilescu, Manuel Mattheisen, Stefan Herms, Per Hoffmann, Axel M Hillmer and 8 more

Open access · bronzeAbstract readMeta-Analysis
In one paragraph

Synthesis in Human molecular genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
32citing papers in PubMed, 3 pooled it
4.4field-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

32 citing papers in PubMed, 3 syntheses or guidelines pooled it, 86 citations in OpenAlex.

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  9. Dosage effects of human ribosomal genes (rDNA) in health and disease.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2019
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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

18 authors at 6 institutions in 3 countries.

Johannes SchumacherUnit on the Genetic Basis of Mood and Anxiety Disorders, National Institute of Mental Health, National Institutes of Health, US Department of Health and Human Services, Bethesda, MD 20892-3719, USA. schumacherj@mail.nih.gov
Gonzalo Laje
Rami Abou Jamra
Tim Becker
Thomas W Mühleisen
Catalina Vasilescu
Manuel Mattheisen
Stefan Herms
Per Hoffmann
Axel M Hillmer
Alexander Georgi
Christine Herold
Thomas G Schulze
Peter Propping
Marcella Rietschel
Francis J McMahon
Markus M Nöthen
Sven Cichon
Life & Brain (Germany) · DEUniversity of Bonn · DECentral Institute of Mental Health · DENational Institute of Mental Health · USNational Institutes of Health · USUnited States Department of Health and Human Services · US

Funding

Intramural NIH HHS
6 · The paper itself

Abstract

Association studies, as well as the initial translocation family study, identified the gene Disrupted-In-Schizophrenia-1 (DISC1) as a risk factor for schizophrenia. DISC1 encodes a multifunctional scaffold protein involved in neurodevelopmental processes implicated in the etiology of schizophrenia. The present study explores the contribution of the DISC locus to schizophrenia using three different approaches: (i) systematic association mapping aimed at detecting DISC risk variants in a schizophrenia sample from a central European population (556 SNPs, n = 1621 individuals). In this homogenous sample, a circumscribed DISC1 interval in intron 9 was significantly associated with schizophrenia in females (P = 4 x 10(-5)) and contributed most strongly to early-onset cases (P = 9 x 10(-5)). The odds ratios (ORs) were in the range of 1.46-1.88. (ii) The same sample was used to test for the locus-specific SNP-SNP interaction most recently associated with schizophrenia. Our results confirm the SNP interplay effect between rs1538979 and rs821633 that significantly conferred disease risk in male patients with schizophrenia (P = 0.016, OR 1.57). (iii) In order to detect additional schizophrenia variants, a meta-analysis was performed using nine schizophrenia samples from different European populations (50 SNPs, n = 10 064 individuals maximum, n = 3694 minimum). We found evidence for a common schizophrenia risk interval within DISC1 intron 4-6 (P = 0.002, OR 1.27). The findings point to a complex association between schizophrenia and DISC, including the presence of different risk loci and SNP interplay effects. Furthermore, our phenotype-genotype results--including the consideration of sex-specific effects--highlight the value of homogenous samples in mapping risk genes for schizophrenia in general, and at the DISC locus in particular.

Indexed as

Case-Control StudiesFemaleGenetic Predisposition to DiseaseGenotypeHumansIntronsMaleNerve Tissue ProteinsPolymorphism, Single NucleotideSchizophreniaSex FactorsWhite PeopleDISC1 protein, humanNerve Tissue Proteins

Identifiers

PMID19414483
PMCPMC2701338
OpenAlexW2122568737

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.