Evidence map›Paper›PMID 24776740›Full record

ArticleMolecular psychiatry2014

Copy number variation in schizophrenia in Sweden.

J P Szatkiewicz, C O'Dushlaine, G Chen, K Chambert, J L Moran, B M Neale, M Fromer, D Ruderfer, S Akterin, S E Bergen and 15 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular psychiatry, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 170 papers, 11 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
170citing papers in PubMed, 11 pooled it
–field-weighted citation impact
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

170 citing papers in PubMed, 11 syntheses or guidelines pooled it.

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  17. Independent inheritance of cognition and bipolar disorder in a family sample.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2025
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110 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

25 authors.

J P SzatkiewiczDepartment of Genetics, University of North Carolina, Chapel Hill, NC, USA.
C O'DushlaineStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
G ChenDepartment of Genetics, University of North Carolina, Chapel Hill, NC, USA.
K ChambertStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
J L MoranStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
B M NealeStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
M FromerDepartment of Psychiatry, Mount Sinai School of Medicine, New York, NY, USA.
D RuderferDepartment of Psychiatry, Mount Sinai School of Medicine, New York, NY, USA.
S AkterinDepartment of Medical Epidemiology, Karolinska Institutet, Stockholm, Sweden.
S E Bergen1] Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA [2] Department of Medical Epidemiology, Karolinska Institutet, Stockholm, Sweden.
A KählerDepartment of Medical Epidemiology, Karolinska Institutet, Stockholm, Sweden.
P K E MagnussonDepartment of Medical Epidemiology, Karolinska Institutet, Stockholm, Sweden.
Y KimDepartment of Genetics, University of North Carolina, Chapel Hill, NC, USA.
J J CrowleyDepartment of Genetics, University of North Carolina, Chapel Hill, NC, USA.
E ReesMRC Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK.
G KirovMRC Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK.
M C O'DonovanMRC Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK.
M J OwenMRC Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK.
J WaltersMRC Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK.
E ScolnickStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
P SklarDepartment of Psychiatry, Mount Sinai School of Medicine, New York, NY, USA.
S Purcell1] Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA [2] Department of Psychiatry, Mount Sinai School of Medicine, New York, NY, USA.
C M HultmanDepartment of Medical Epidemiology, Karolinska Institutet, Stockholm, Sweden.
S A McCarroll1] Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA [2] Department of Genetics, Harvard Medical School, Boston, MA, USA.
P F Sullivan1] Department of Genetics, University of North Carolina, Chapel Hill, NC, USA [2] Department of Medical Epidemiology, Karolinska Institutet, Stockholm, Sweden.

Funding

A Large-Scale Schizophrenia Association Study in SwedenR01MH077139 · NIMH · UNIV OF NORTH CAROLINA CHAPEL HILL · PI SULLIVAN, PATRICK F · 2007 to 2018
$9.9M
2/2 Large-Scale Genetic Studies of Schizophrenia in SwedenR01MH095034 · NIMH · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI STAHL, ELI A · 2012 to 2019
$3.6M
1/4 Psychiatric GWAS Consortium: Genomic Follow-up Next-Gen Sequencing & GenotypiU01MH094421 · NIMH · UNIV OF NORTH CAROLINA CHAPEL HILL · PI SULLIVAN, PATRICK F · 2012 to 2015
$1.9M
High Throughput Sequencing and Copy Number Variation in SchizophreniaK01MH093517 · NIMH · UNIV OF NORTH CAROLINA CHAPEL HILL · PI SZATKIEWICZ, JIN PENG · 2011 to 2015
$732k
Medical Research Council G0601635Medical Research Council G0800509Medical Research Council G0801418Medical Research Council MR/L010305/1NIMH NIH HHS K01 MH093517NIMH NIH HHS R01 MH077139NIMH NIH HHS R01 MH095034NIMH NIH HHS U01 MH094421
6 · The paper itself

Abstract

Schizophrenia (SCZ) is a highly heritable neuropsychiatric disorder of complex genetic etiology. Previous genome-wide surveys have revealed a greater burden of large, rare copy number variations (CNVs) in SCZ cases and identified multiple rare recurrent CNVs that increase risk of SCZ although with incomplete penetrance and pleiotropic effects. Identification of additional recurrent CNVs and biological pathways enriched for SCZ CNVs requires greater sample sizes. We conducted a genome-wide survey for CNVs associated with SCZ using a Swedish national sample (4719 cases and 5917 controls). High-confidence CNV calls were generated using genotyping array intensity data, and their effect on risk of SCZ was measured. Our data confirm increased burden of large, rare CNVs in SCZ cases as well as significant associations for recurrent 16p11.2 duplications, 22q11.2 deletions and 3q29 deletions. We report a novel association for 17q12 duplications (odds ratio=4.16, P=0.018), previously associated with autism and mental retardation but not SCZ. Intriguingly, gene set association analyses implicate biological pathways previously associated with SCZ through common variation and exome sequencing (calcium channel signaling and binding partners of the fragile X mental retardation protein). We found significantly increased burden of the largest CNVs (>500 kb) in genes present in the postsynaptic density, in genomic regions implicated via SCZ genome-wide association studies and in gene products localized to mitochondria and cytoplasm. Our findings suggest that multiple lines of genomic inquiry--genome-wide screens for CNVs, common variation and exonic variation--are converging on similar sets of pathways and/or genes.

Indexed as

AdultCase-Control StudiesDNA Copy Number VariationsGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeHumansPolymorphism, Single NucleotideSchizophreniaSwedenWhite People

Identifiers

PMID24776740
PMCPMC4271733

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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.