Evidence map›Paper›PMID 19023125›Full record

ArticleSchizophrenia bulletin2009

A genome-wide association study of schizophrenia using brain activation as a quantitative phenotype.

Steven G Potkin, Jessica A Turner, Guia Guffanti, Anita Lakatos, James H Fallon, Dana D Nguyen, Daniel Mathalon, Judith Ford, John Lauriello, Fabio Macciardi and 1 more

Open access · bronzeAbstract read
In one paragraph

Article in Schizophrenia bulletin, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 136 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
136citing papers in PubMed, 3 pooled it
9.7field-weighted citation impact, top 2% 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

136 citing papers in PubMed, 3 syntheses or guidelines pooled it, 221 citations in OpenAlex.

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  12. Connecting genomic and proteomic signatures of amyloid burden in the brain.medRxiv : the preprint server for health sciences · 2024
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76 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

11 authors at 4 institutions in 2 countries.

Steven G PotkinDepartment of Psychiatry and Human Behavior, University of California, Irvine, CA 92617, USA. sgpotkin@uci.edu
Jessica A Turner
Guia Guffanti
Anita Lakatos
James H Fallon
Dana D Nguyen
Daniel Mathalon
Judith Ford
John Lauriello
Fabio Macciardi
FBIRN
University of California, Irvine · USUniversity of Milan · ITYale University · USUniversity of New Mexico · US

Funding

FUNCTION BIRNU24RR021992 · NCRR · UNIVERSITY OF CALIFORNIA-IRVINE · PI POTKIN, STEVEN G · 2006 to 2010
$25.0M
Transdisciplinary Imaging Genetics Center (RMI)P20RR020837 · NCRR · UNIVERSITY OF CALIFORNIA-IRVINE · PI POTKIN, STEVEN G · 2004 to 2006
$1.7M
NCRR NIH HHS 1 U24 RR021992NCRR NIH HHS P20RR020837-01
6 · The paper itself

Abstract

backgroundGenome-wide association studies (GWASs) are increasingly used to identify risk genes for complex illnesses including schizophrenia. These studies may require thousands of subjects to obtain sufficient power. We present an alternative strategy with increased statistical power over a case-control study that uses brain imaging as a quantitative trait (QT) in the context of a GWAS in schizophrenia.

methodsSixty-four subjects with chronic schizophrenia and 74 matched controls were recruited from the Functional Biomedical Informatics Research Network (FBIRN) consortium. Subjects were genotyped using the Illumina HumanHap300 BeadArray and were scanned while performing a Sternberg Item Recognition Paradigm in which they learned and then recognized target sets of digits in an functional magnetic resonance imaging protocol. The QT was the mean blood oxygen level-dependent signal in the dorsolateral prefrontal cortex during the probe condition for a memory load of 3 items.

resultsThree genes or chromosomal regions were identified by having 2 single-nucleotide polymorphisms (SNPs) each significant at P < 10(-6) for the interaction between the imaging QT and the diagnosis (ROBO1-ROBO2, TNIK, and CTXN3-SLC12A2). Three other genes had a significant SNP at <10(-6) (POU3F2, TRAF, and GPC1). Together, these 6 genes/regions identified pathways involved in neurodevelopment and response to stress.

conclusionCombining imaging and genetic data from a GWAS identified genes related to forebrain development and stress response, already implicated in schizophrenic dysfunction, as affecting prefrontal efficiency. Although the identified genes require confirmation in an independent sample, our approach is a screening method over the whole genome to identify novel SNPs related to risk for schizophrenia.

Indexed as

GenomePhenotypeAdultAgedBrainFemaleGenetic TestingGenome-Wide Association StudyGenotypeGerminal Center KinasesHumansMaleMembrane ProteinsMiddle AgedNerve Tissue ProteinsPolymorphism, Single NucleotideCTXN3 protein, humanGerminal Center KinasesMembrane ProteinsNerve Tissue ProteinsProtein Serine-Threonine KinasesReceptors, ImmunologicROBO2 protein, humanRoundabout ProteinsSLC12A2 protein, humanSodium-Potassium-Chloride SymportersSolute Carrier Family 12, Member 2TNIK protein, human

Identifiers

PMID19023125
PMCPMC2643953
OpenAlexW2106887445

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.