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Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects

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Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects. / CNV and Schizophrenia Working Groups of the Psychiatric Genomics Consortium.
In: Nature Genetics, Vol. 49, 01.2017, p. 27-35.

Research output: Contribution to Journal/Magazine › Journal article › peer-review

Harvard

CNV and Schizophrenia Working Groups of the Psychiatric Genomics Consortium 2017, 'Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects', Nature Genetics, vol. 49, pp. 27-35. https://doi.org/10.1038/ng.3725

APA

CNV and Schizophrenia Working Groups of the Psychiatric Genomics Consortium (2017). Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects. Nature Genetics, 49, 27-35. https://doi.org/10.1038/ng.3725

Vancouver

CNV and Schizophrenia Working Groups of the Psychiatric Genomics Consortium. Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects. Nature Genetics. 2017 Jan;49:27-35. Epub 2016 Nov 21. doi: 10.1038/ng.3725

Author

CNV and Schizophrenia Working Groups of the Psychiatric Genomics Consortium. / Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects. In: Nature Genetics. 2017 ; Vol. 49. pp. 27-35.

Bibtex

@article{2f504721b39d410092b60633f5769de3,
title = "Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects",
abstract = "Copy number variants (CNVs) have been strongly implicated in the genetic etiology of schizophrenia (SCZ). However, genome-wide investigation of the contribution of CNV to risk has been hampered by limited sample sizes. We sought to address this obstacle by applying a centralized analysis pipeline to a SCZ cohort of 21,094 cases and 20,227 controls. A global enrichment of CNV burden was observed in cases (odds ratio (OR) = 1.11, P = 5.7 × 10(-15)), which persisted after excluding loci implicated in previous studies (OR = 1.07, P = 1.7 × 10(-6)). CNV burden was enriched for genes associated with synaptic function (OR = 1.68, P = 2.8 × 10(-11)) and neurobehavioral phenotypes in mouse (OR = 1.18, P = 7.3 × 10(-5)). Genome-wide significant evidence was obtained for eight loci, including 1q21.1, 2p16.3 (NRXN1), 3q29, 7q11.2, 15q13.3, distal 16p11.2, proximal 16p11.2 and 22q11.2. Suggestive support was found for eight additional candidate susceptibility and protective loci, which consisted predominantly of CNVs mediated by nonallelic homologous recombination.",
author = "{CNV and Schizophrenia Working Groups of the Psychiatric Genomics Consortium} and Jo Knight",
note = "{\textcopyright} 2017 Macmillan Publishers Limited, part of Springer Nature. All rights reserved.",
year = "2017",
month = jan,
doi = "10.1038/ng.3725",
language = "English",
volume = "49",
pages = "27--35",
journal = "Nature Genetics",
issn = "1061-4036",
publisher = "Nature Publishing Group",

}

RIS

TY - JOUR

T1 - Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects

AU - CNV and Schizophrenia Working Groups of the Psychiatric Genomics Consortium

AU - Knight, Jo

N1 - © 2017 Macmillan Publishers Limited, part of Springer Nature. All rights reserved.

PY - 2017/1

Y1 - 2017/1

N2 - Copy number variants (CNVs) have been strongly implicated in the genetic etiology of schizophrenia (SCZ). However, genome-wide investigation of the contribution of CNV to risk has been hampered by limited sample sizes. We sought to address this obstacle by applying a centralized analysis pipeline to a SCZ cohort of 21,094 cases and 20,227 controls. A global enrichment of CNV burden was observed in cases (odds ratio (OR) = 1.11, P = 5.7 × 10(-15)), which persisted after excluding loci implicated in previous studies (OR = 1.07, P = 1.7 × 10(-6)). CNV burden was enriched for genes associated with synaptic function (OR = 1.68, P = 2.8 × 10(-11)) and neurobehavioral phenotypes in mouse (OR = 1.18, P = 7.3 × 10(-5)). Genome-wide significant evidence was obtained for eight loci, including 1q21.1, 2p16.3 (NRXN1), 3q29, 7q11.2, 15q13.3, distal 16p11.2, proximal 16p11.2 and 22q11.2. Suggestive support was found for eight additional candidate susceptibility and protective loci, which consisted predominantly of CNVs mediated by nonallelic homologous recombination.

AB - Copy number variants (CNVs) have been strongly implicated in the genetic etiology of schizophrenia (SCZ). However, genome-wide investigation of the contribution of CNV to risk has been hampered by limited sample sizes. We sought to address this obstacle by applying a centralized analysis pipeline to a SCZ cohort of 21,094 cases and 20,227 controls. A global enrichment of CNV burden was observed in cases (odds ratio (OR) = 1.11, P = 5.7 × 10(-15)), which persisted after excluding loci implicated in previous studies (OR = 1.07, P = 1.7 × 10(-6)). CNV burden was enriched for genes associated with synaptic function (OR = 1.68, P = 2.8 × 10(-11)) and neurobehavioral phenotypes in mouse (OR = 1.18, P = 7.3 × 10(-5)). Genome-wide significant evidence was obtained for eight loci, including 1q21.1, 2p16.3 (NRXN1), 3q29, 7q11.2, 15q13.3, distal 16p11.2, proximal 16p11.2 and 22q11.2. Suggestive support was found for eight additional candidate susceptibility and protective loci, which consisted predominantly of CNVs mediated by nonallelic homologous recombination.

U2 - 10.1038/ng.3725

DO - 10.1038/ng.3725

M3 - Journal article

C2 - 27869829

VL - 49

SP - 27

EP - 35

JO - Nature Genetics

JF - Nature Genetics

SN - 1061-4036

ER -