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Large recurrent microdeletions associated with schizophrenia.
Open accessAbstract
Reduced fecundity, associated with severe mental disorders, places negative selection pressure on risk alleles and may explain, in part, why common variants have not been found that confer risk of disorders such as autism, schizophrenia and mental retardation. Thus, rare variants may account for a larger fraction of the overall genetic risk than previously assumed. In contrast to rare single nucleotide mutations, rare copy number variations (CNVs) can be detected using genome-wide single nucleotide polymorphism arrays. This has led to the identification of CNVs associated with mental retardation and autism. In a genome-wide search for CNVs associating with schizophrenia, we used a population-based sample to identify de novo CNVs by analysing 9,878 transmissions from parents to offspring. The 66 de novo CNVs identified were tested for association in a sample of 1,433 schizophrenia cases and 33,250 controls. Three deletions at 1q21.1, 15q11.2 and 15q13.3 showing nominal association with schizophrenia in the first sample (phase I) were followed up in a second sample of 3,285 cases and 7,951 controls (phase II). All three deletions significantly associate with schizophrenia and related psychoses in the combined sample. The identification of these rare, recurrent risk variants, having occurred independently in multiple founders and being subject to negative selection, is important in itself. CNV analysis may also point the way to the identification of additional and more prevalent risk variants in genes and pathways involved in schizophrenia.
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In the citing paper
“Deletion of 15q11.2(BP1–BP2) leads to a two to fourfold increase in the risk for schizophrenia, autism and intellectual disability [1–5].”
From Linking haploinsufficiency of the autism- and schizophrenia-associated gene Cyfip1 with striatal-limbic-cortical network dysfunction and cognitive inflexibility (2024) · cites this paper as [1]
Experimental — accuracy not yet measuredThe source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“a review of reported data from control cohorts (n = 66,462 subjects) summarized to date show that about 0.25% of controls are found with the 15q11.2 BP1–BP2 microdeletion [18,27,28,29,30,31].”
From The 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review (2015) · cites this paper as [31]
Experimental — accuracy not yet measuredThe source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“Copy number variation (CNV) at the 15q11.2 region has been identified as a significant risk locus for neurological and neuropsychiatric conditions such as schizophrenia (SCZ) and autism spectrum disorder (ASD).”
From The autism and schizophrenia associated gene CYFIP1 is critical for the maintenance of dendritic complexity and the stabilization of mature spines (2014) · cites this paper as [5]
Experimental — accuracy not yet measuredThe source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“Copy number variation of one gene within 15q11.2, coding for the cytoplasmic FMRP-interacting protein 1 (CYFIP1), has been linked to both ASD and SCZ.5,8,9”
From The autism and schizophrenia associated gene CYFIP1 is critical for the maintenance of dendritic complexity and the stabilization of mature spines (2014) · cites this paper as [5]
Experimental — accuracy not yet measuredThe source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“Altered levels of CYFIP1 are associated with several neurological disorders including SCZ and ASD.4,5,10”
From The autism and schizophrenia associated gene CYFIP1 is critical for the maintenance of dendritic complexity and the stabilization of mature spines (2014) · cites this paper as [5]
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In the citing paper
“The BP1-BP2 deletion is associated with phenotypic variability and has been reported in individuals with neurodevelopmental disorders [20], schizophrenia [53], [60], ASD [44]–[46], [49], and epilepsy [61].”
From Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders (2012) · cites this paper as [53]
In the citing paper
“However, the most compelling candidate in the deleted region is CYFIP1 [45], [53], which codes for a binding partner of FMRP, the protein responsible for fragile X syndrome.”
From Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders (2012) · cites this paper as [53]
In the citing paper
“Notably, inherited CNVs detected in this study included variants at loci that have been previously linked to schizophrenia (International Schizophrenia Consortium, 2008 and Stefansson et al., 2008), including a duplication at 1q21.1 in a subject with bipolar disorder and a duplication and a deletion at 15q13.3 detected in subjects with bipolar disorder and schizophrenia, respectively (Document S2,”
From High frequencies of de novo CNVs in bipolar disorder and schizophrenia (2011) · cites this paper as Stefansson et al., 2008
In the citing paper
“Notably, the median size of SD and non-SD-mediated de novo CNVs was 722 kb and 67 kb respectively, consistent with previous studies that have found differences in CNV size related to the underlying mutational mechanism (Itsara et al., 2010 and Stefansson et al., 2008).”
From High frequencies of de novo CNVs in bipolar disorder and schizophrenia (2011) · cites this paper as Stefansson et al., 2008
In the citing paper
“SVs have already been associated with diverse diseases, including autism2,3, schizophrenia4,5 and Crohn’s disease6,7.”
From Mapping copy number variation by population-scale genome sequencing (2011) · cites this paper as [4]
In the citing paper
“Accordingly, such CNVs must frequently occur as recurrent de novo mutations.”
From De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia (2012) · cites this paper as [7]
In the citing paper
“several individual CNV loci have been strongly implicated as risk factors for schizophrenia with high degrees of statistical confidence. These include deletions at 1q21.1, NRXN1, 3q29, 15q11.2, 15q13.3, 22q11.2 and duplications at VIPR2, 16p11.2, 16p13.1 and 15q11-q13.2, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13”
From De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia (2012) · cites this paper as [7]
In the citing paper
“those that occur in multiple unrelated individuals are likely to do so through independent de novo mutations.7, 22, 23, 24”
From De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia (2012) · cites this paper as [7]
In the citing paper
“Although there is strong published evidence for deletions at this locus being relevant to schizophrenia,3, 7”
From De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia (2012) · cites this paper as [7]
In the citing paper
“(which does not overlap the known 1q21.1 schizophrenia locus2, 7)”
From De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia (2012) · cites this paper as [7]
In the citing paper
“many of these same recurrent CNVs observed initially in patients with ID [15] or ASD [16] have been identified in adults with epilepsy [17], bipolar disorder [18], or schizophrenia [19,20], suggesting overlap in the genetic etiology of these disorders.”
From A de novo convergence of autism genetics and molecular neuroscience (2014) · cites this paper as [19]
In the citing paper
“Five percent of cases of schizophrenia and of autism have each been attributed to CNVs at fewer than a half dozen genomic locations46–48.”
From Rare and common variants: twenty arguments (2012) · cites this paper as [46]
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Metadata
- Authors
- GROUP, Stefansson, H., Rujescu, D., Cichon, S., Pietiläinen, O. P. H., Ingason, A., Steinberg, S., Fossdal, R., Sigurdsson, E., Sigmundsson, T., Buizer-Voskamp, J. E., Hansen, T., Jakobsen, K. D., Muglia, P., Francks, C., Matthews, P. M., Gylfason, A., Halldorsson, B. V., Gudbjartsson, D., Thorgeirsson, T. E., Sigurdsson, A., Jonasdottir, A., Jonasdottir, A., Bjornsson, A., Mattiasdottir, S., Blondal, T., Haraldsson, M., Magnusdottir, B. B., Giegling, I., Möller, H.-J., Hartmann, A., Shianna, K. V., Ge, D., Need, A. C., Crombie, C., Fraser, G., Walker, N., Lonnqvist, J., Suvisaari, J., Tuulio-Henriksson, A., Paunio, T., Toulopoulou, T., Bramon, E., Di Forti, M., Murray, R., Ruggeri, M., Vassos, E., Tosato, S., Walshe, M., Li, T., Vasilescu, C., Mühleisen, T. W., Wang, A. G., Ullum, H., Djurovic, S., Melle, I., Olesen, J., Kiemeney, L. A., Franke, B., Sabatti, C., Freimer, N. B., Gulcher, J. R., Thorsteinsdottir, U., Kong, A., Andreassen, O. A., Ophoff, R. A., Georgi, A., Rietschel, M., Werge, T., Petursson, H., Goldstein, D. B., Nöthen, M. M., Peltonen, L., Collier, D. A., St Clair, D., & Stefansson, K.
- Affiliations
- deCODE Genetics (Iceland) (IS)
- University of Bonn (DE)
- University Medical Center Utrecht (NL)
- University of Copenhagen (DK)
- GlaxoSmithKline (Italy) (IT)
- GlaxoSmithKline (United Kingdom) (GB)
- National University Hospital of Iceland (IS)
- Ludwig-Maximilians-Universität München (DE)
- Duke University (US)
- University of Aberdeen (GB)
- King's College London (GB)
- University of Verona (IT)
- Amager Hospital (DK)
- University of Oslo (NO)
- Glostrup Hospital (DK)
- Radboud University Medical Center (NL)
- University of California, Los Angeles (US)
- Heidelberg University (DE)
- Sankt Hans Hospital (DK)
- Broad Institute (US)
- ORCID
- Rujescu, Dan
- Cichon, Sven
- Pietiläinen, Olli P. H.
- Steinberg, Stacy
- Hansen, Thomas
- Muglia, Pierandrea
- Francks, Clyde
- Matthews, Paul M.
- Gylfason, Arnaldur
- Gudbjartsson, Daniel
- Thorgeirsson, Thorgeir E.
- Haraldsson, Magnus
- Giegling, Ina
- Möller, Hans-Jürgen
- Hartmann, Annette
- Ge, Dongliang
- Need, Anna C.
- Suvisaari, Jaana
- Paunio, Tiina
- Bramon, Elvira
- Murray, Robin
- Ruggeri, Mirella
- Vassos, Evangelos
- Tosato, Sarah
- Walshe, Muriel
- Li, Tao
- Mühleisen, Thomas W.
- Wang, August G.
- Ullum, Henrik
- Djurovic, Srdjan
- Melle, Ingrid
- Olesen, Jes
- Kiemeney, Lambertus A.
- Franke, Barbara
- Sabatti, Chiara
- Freimer, Nelson B.
- Kong, Augustine
- Andreassen, Ole A.
- Ophoff, Roel A.
- Georgi, Alexander
- Rietschel, Marcella
- Werge, Thomas
- Goldstein, David B.
- Nöthen, Markus M.
- Peltonen, Leena
- Collier, David A.
- Venue
- Nature
- Published
- 2008-09
- Volume
- 455
- Issue
- 7210
- Pages
- 232-236
- ISSN
- 0028-0836 (ISSN-L)
- 1476-4687
- PMC
- PMC2687075
- OpenAlex
- W1997031801
- Cited by
- 1,745
- References
- 32
- Citations by year
- 2026: 11 · 2025: 21 · 2024: 28 · 2023: 32 · 2022: 34 · 2021: 51 · 2020: 41 · 2019: 62 · 2018: 61 · 2017: 62 · 2016: 80 · 2015: 118 · 2014: 115 · 2013: 159 · 2012: 173
- FWCI
- 130.32
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature (publishedVersion)
- PubMed (publishedVersion)
- Pure Amsterdam UMC (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- MPG.PuRe (Max Planck Society) (submittedVersion, other-oa)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- RePEc: Research Papers in Economics (submittedVersion)
- UCL Discovery (University College London) (submittedVersion)
- The HKU Scholars Hub (University of Hong Kong) (submittedVersion)
- Research Portal (King's College London) (submittedVersion)
- Lirias (submittedVersion)
- Research at the University of Copenhagen (University of Copenhagen) (submittedVersion)
- Radboud Repository (Radboud University) (submittedVersion)
- Hirsla (Landspítali University Hospital) (submittedVersion)
- Funders
- Wellcome Trust (089061)
- National Institute for Health and Care Research (PDA/02/06/016)
- Bundesministerium für Bildung und Forschung
- Alfried Krupp von Bohlen und Halbach-Stiftung
- National Institute of Mental Health (R01MH071425, R01MH078075, R01MH71425-01A1)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Health Sciences › Medicine › Psychiatry and Mental health › Schizophrenia research and treatment
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- schizophrenia, copy number variation, de novo copy number variants, 1q21.1, 15q11.2, 15q13.3, chromosome 1, chromosome 15, rare variants, negative selection, fecundity, psychosis, genetic association, founder effect
- MeSH terms
- China, Chromosomes, Human, Pair 1, Chromosomes, Human, Pair 15, Europe, Genotype, Humans, Models, Genetic, Psychotic Disorders, Schizophrenia, Genome, Human, Sequence Deletion, Gene Dosage, Loss of Heterozygosity, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide
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