Evidence map›Paper›PMID 23805179›Full record

Trial reportPloS one2013

A Genome-Wide Association Study Suggests Novel Loci Associated with a Schizophrenia-Related Brain-Based Phenotype.

Johanna Hass, Esther Walton, Holger Kirsten, Jingyu Liu, Lutz Priebe, Christiane Wolf, Nazanin Karbalai, Randy Gollub, Tonya White, Veit Roessner and 9 more

Open access · goldAbstract readClinical TrialMulticenter Study
In one paragraph

Trial report in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
14citing papers in PubMed, 1 pooled it
2.6field-weighted citation impact, top 10% 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

14 citing papers in PubMed, 1 synthesis or guideline pooled it, 23 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Article
  4. Review
  5. Article
  6. Article
  7. Review
  8. Genetic underpinnings of left superior temporal gyrus thickness in patients with schizophrenia.The world journal of biological psychiatry : the official journal of the World Federation of Societies of Biological Psychiatry · 2015
    Article
  9. Article
  10. Genetics and brain morphology.Neuropsychology review · 2015
    Article
  11. Imaging genetics and psychiatric disorders.Current molecular medicine · 2015
    Review
  12. Article
  13. Article
  14. A Latent Gaussian Copula Model for Mixed Data Analysis in Brain Imaging Genetics.IEEE/ACM transactions on computational biology and bioinformatics
    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

19 authors at 9 institutions in 4 countries.

Johanna HassDepartment of Child and Adolescent Psychiatry, University Hospital Carl Gustav Carus, Dresden University of Technology, Dresden, Germany.
Esther Walton
Holger Kirsten
Jingyu Liu
Lutz Priebe
Christiane Wolf
Nazanin Karbalai
Randy Gollub
Tonya White
Veit Roessner
Kathrin U Müller
Tomas Paus
Michael N Smolka
Gunter Schumann
IMAGEN Consortium
Markus Scholz
Sven Cichon
Vince Calhoun
Stefan Ehrlich
University Hospital Carl Gustav Carus · DELeipzig University of Applied Sciences · DEMax Planck Institute of Psychiatry · DEMind Research Network · USUniversity of Bonn · DEUniversity of Minnesota · USKing's College London · GBMassachusetts General Hospital · USMontreal Neurological Institute and Hospital · CA

Funding

HARVARD CLINICAL AND TRANSLATIONAL SCIENCE CENTER (UL1)UL1RR025758 · NCRR · HARVARD MEDICAL SCHOOL · PI NADLER, LEE MARSHALL · 2008 to 2011
$91.4M
FUNCTION BIRNU24RR021992 · NCRR · UNIVERSITY OF CALIFORNIA-IRVINE · PI POTKIN, STEVEN G · 2006 to 2010
$25.0M
MORPHOMETRY BIOMEDICAL INFORMATICS RESEARCH NETWORKU24RR021382 · NCRR · MASSACHUSETTS GENERAL HOSPITAL · PI ROSEN, BRUCE R · 2004 to 2008
$24.1M
ULTRAHIGH FIELD TECHNOLOGY FOR FUNCTIONAL IMAGINGP41RR014075 · NCRR · MASSACHUSETTS GENERAL HOSPITAL · PI BOAS, DAVID A · 1999 to 2011
$16.4M
Department of HealthMedical Research Council 93558Medical Research Council G0901858NCRR NIH HHS P41 RR014075NCRR NIH HHS U24 RR021382NCRR NIH HHS U24 RR021992NCRR NIH HHS UL1 RR025758
6 · The paper itself

Abstract

Patients with schizophrenia and their siblings typically show subtle changes of brain structures, such as a reduction of hippocampal volume. Hippocampal volume is heritable, may explain a variety of cognitive symptoms of schizophrenia and is thus considered an intermediate phenotype for this mental illness. The aim of our analyses was to identify single-nucleotide polymorphisms (SNP) related to hippocampal volume without making prior assumptions about possible candidate genes. In this study, we combined genetics, imaging and neuropsychological data obtained from the Mind Clinical Imaging Consortium study of schizophrenia (n = 328). A total of 743,591 SNPs were tested for association with hippocampal volume in a genome-wide association study. Gene expression profiles of human hippocampal tissue were investigated for gene regions of significantly associated SNPs. None of the genetic markers reached genome-wide significance. However, six highly correlated SNPs (rs4808611, rs35686037, rs12982178, rs1042178, rs10406920, rs8170) on chromosome 19p13.11, located within or in close proximity to the genes NR2F6, USHBP1, and BABAM1, as well as four SNPs in three other genomic regions (chromosome 1, 2 and 10) had p-values between 6.75×10(-6) and 8.3×10(-7). Using existing data of a very recently published GWAS of hippocampal volume and additional data of a multicentre study in a large cohort of adolescents of European ancestry, we found supporting evidence for our results. Furthermore, allelic differences in rs4808611 and rs8170 were highly associated with differential mRNA expression in the cis-acting region. Associations with memory functioning indicate a possible functional importance of the identified risk variants. Our findings provide new insights into the genetic architecture of a brain structure closely linked to schizophrenia. In silico replication, mRNA expression and cognitive data provide additional support for the relevance of our findings. Identification of causal variants and their functional effects may unveil yet unknown players in the neurodevelopment and the pathogenesis of neuropsychiatric disorders.

Indexed as

Gene Expression RegulationGenetic LociGenome-Wide Association StudyHippocampusPolymorphism, Single NucleotideSchizophreniaAdolescentFemaleGene Expression ProfilingHumansMale

Identifiers

PMID23805179
PMCPMC3689744
OpenAlexW2139939571

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.