Evidence map›Paper›PMID 22220189›Full record

ArticlePloS one2011

Comprehensive gene-based association study of a chromosome 20 linked region implicates novel risk loci for depressive symptoms in psychotic illness.

T Bernard Bigdeli, Brion S Maher, Zhongming Zhao, Edwin J C G van den Oord, Dawn L Thiselton, Jingchun Sun, Bradley T Webb, Richard L Amdur, Brandon Wormley, Francis A O'Neill and 4 more

Open access · goldAbstract read
In one paragraph

Article in PloS one, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed, 1 pooled it
0.4field-weighted citation impact, top 32% 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

5 citing papers in PubMed, 1 synthesis or guideline pooled it, 8 citations in OpenAlex.

  1. Pooled it
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  5. Review
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

14 authors at 5 institutions in 3 countries.

T Bernard BigdeliDepartment of Human and Molecular Genetics, Virginia Commonwealth University, Richmond, Virginia, United States of America.
Brion S Maher
Zhongming Zhao
Edwin J C G van den Oord
Dawn L Thiselton
Jingchun Sun
Bradley T Webb
Richard L Amdur
Brandon Wormley
Francis A O'Neill
Dermot Walsh
Brien P Riley
Kenneth S Kendler
Ayman H Fanous
Virginia Commonwealth University · USHealth Research Board · IEQueen's University Belfast · GBVanderbilt University Medical Center · USWashington DC VA Medical Center · US

Funding

THE GENETIC EPIDEMIOLOGY OF SCHIZOPHRENIA IN IRELANDR01MH041953 · NIMH · VIRGINIA COMMONWEALTH UNIVERSITY · PI KENDLER, KENNETH SEEDMAN · 1987 to 2008
$5.2M
A genome-wide association study of schizophrenia in IrelandR01MH083094 · NIMH · VIRGINIA COMMONWEALTH UNIVERSITY · PI RILEY, BRIEN P · 2008 to 2011
$3.5M
MULTICENTER GENETIC STUDIES OF SCHIZOPHRENIAR01MH062276 · NIMH · UNIVERSITY OF PENNSYLVANIA · PI LEVINSON, DOUGLAS FREDERICK · 2000 to 2008
$3.2M
Research Education in Statistical Genetics of Substance AbuseR25DA026119 · NIDA · VIRGINIA COMMONWEALTH UNIVERSITY · PI NEALE, MICHAEL CHURTON · 2008 to 2018
$3.2M
Multicenter Genetic Studies of SchizophreniaR01MH068881 · NIMH · VIRGINIA COMMONWEALTH UNIVERSITY · PI RILEY, BRIEN P · 2004 to 2007
$431k
Generation of Ethanol Response Gene Resource by Large-Scale Data IntegrationR21AA017437 · NIAAA · VIRGINIA COMMONWEALTH UNIVERSITY · PI ZHAO, ZHONGMING · 2008 to 2009
$398k
NIAAA NIH HHS AA017437NIAAA NIH HHS R21 AA017437NIDA NIH HHS 5R25DA026119-03NIDA NIH HHS R25 DA026119NIMH NIH HHS MH041953NIMH NIH HHS MH068881NIMH NIH HHS MH083094NIMH NIH HHS R01 MH041953NIMH NIH HHS R01 MH062276NIMH NIH HHS R01 MH068881NIMH NIH HHS R01 MH083094
6 · The paper itself

Abstract

backgroundPrior genomewide scans of schizophrenia support evidence of linkage to regions of chromosome 20. However, association analyses have yet to provide support for any etiologically relevant variants.

methodsWe analyzed 2988 LD-tagging single nucleotide polymorphisms (SNPs) in 327 genes on chromosome 20, to test for association with schizophrenia in 270 Irish high-density families (ISHDSF, N = 270 families, 1408 subjects). These SNPs were genotyped using an Illumina iSelect genotyping array which employs the Infinium assay. Given a previous report of novel linkage with chromosome 20p using latent classes of psychotic illness in this sample, association analysis was also conducted for each of five factor-derived scores based on the Operational Criteria Checklist for Psychotic Illness (delusions, hallucinations, mania, depression, and negative symptoms). Tests of association were conducted using the PDTPHASE and QPDTPHASE packages of UNPHASED. Empirical estimates of gene-wise significance were obtained by adaptive permutation of a) the smallest observed P-value and b) the threshold-truncated product of P-values for each locus.

resultsWhile no single variant was significant after LD-corrected Bonferroni-correction, our gene-dropping analyses identified loci which exceeded empirical significance criteria for both gene-based tests. Namely, R3HDML and C20orf39 are significantly associated with depressive symptoms of schizophrenia (P(emp)<2×10⁻⁵) based on the minimum P-value and truncated-product methods, respectively.

conclusionsUsing a gene-based approach to family-based association, R3HDML and C20orf39 were found to be significantly associated with clinical dimensions of schizophrenia. These findings demonstrate the efficacy of gene-based analysis and support previous evidence that chromosome 20 may harbor schizophrenia susceptibility or modifier loci.

Indexed as

Genetic Association StudiesGenetic Predisposition to DiseaseChromosomes, Human, Pair 20Computer SimulationDepressionFemaleGenetic LinkageGenetic LociGenetic MarkersHumansLinkage DisequilibriumMalePedigreePolymorphism, Single NucleotidePsychotic DisordersRisk FactorsGenetic Markers

Identifiers

PMID22220189
PMCPMC3248394
OpenAlexW2037619631

What OpenQuestion holds

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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.