Large recurrent microdeletions associated with schizophrenia

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Large recurrent microdeletions associated with schizophrenia. / Stefansson, H.; Rujescu, D.; Cichon, S.; Pietilainen, O.P.; 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.; Moller, 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.; Wang, August Gabriel; Ullum, H.; Olesen, Jes; Werge, Thomas; Wang, August G; Ullum, Henrik; Olesen, Jes; GROUP.

I: Nature Study, Bind 455, Nr. 7210, 2008, s. 232-6.

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt

Harvard

Stefansson, H, Rujescu, D, Cichon, S, Pietilainen, OP, Ingason, A, Steinberg, S, Fossdal, R, Sigurdsson, E, Sigmundsson, T, Buizer-Voskamp, JE, Hansen, T, Jakobsen, KD, Muglia, P, Francks, C, Matthews, PM, Gylfason, A, Halldorsson, BV, Gudbjartsson, D, Thorgeirsson, TE, Sigurdsson, A, Jonasdottir, A, Jonasdottir, A, Bjornsson, A, Mattiasdottir, S, Blondal, T, Haraldsson, M, Magnusdottir, BB, Giegling, I, Moller, HJ, Hartmann, A, Shianna, KV, Ge, D, Need, AC, Crombie, C, Fraser, G, Walker, N, Lonnqvist, J, Suvisaari, J, Tuulio-Henriksson, A, Paunio, T, Toulopoulou, T, Bramon, E, Di, FM, Wang, AG, Ullum, H, Olesen, J, Werge, T, Wang, AG, Ullum, H, Olesen, J & GROUP 2008, 'Large recurrent microdeletions associated with schizophrenia', Nature Study, bind 455, nr. 7210, s. 232-6. https://doi.org/10.1038/nature07229, https://doi.org/10.1038/nature07229

APA

Stefansson, H., Rujescu, D., Cichon, S., Pietilainen, O. P., 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., ... GROUP (2008). Large recurrent microdeletions associated with schizophrenia. Nature Study, 455(7210), 232-6. https://doi.org/10.1038/nature07229, https://doi.org/10.1038/nature07229

Vancouver

Stefansson H, Rujescu D, Cichon S, Pietilainen OP, Ingason A, Steinberg S o.a. Large recurrent microdeletions associated with schizophrenia. Nature Study. 2008;455(7210):232-6. https://doi.org/10.1038/nature07229, https://doi.org/10.1038/nature07229

Author

Stefansson, H. ; Rujescu, D. ; Cichon, S. ; Pietilainen, O.P. ; 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. ; Moller, 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. ; Wang, August Gabriel ; Ullum, H. ; Olesen, Jes ; Werge, Thomas ; Wang, August G ; Ullum, Henrik ; Olesen, Jes ; GROUP. / Large recurrent microdeletions associated with schizophrenia. I: Nature Study. 2008 ; Bind 455, Nr. 7210. s. 232-6.

Bibtex

@article{e8a2bb6005d711deb05e000ea68e967b,
title = "Large recurrent microdeletions associated with schizophrenia",
abstract = "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.",
author = "H. Stefansson and D. Rujescu and S. Cichon and O.P. Pietilainen and A. Ingason and S. Steinberg and R. Fossdal and E. Sigurdsson and T. Sigmundsson and J.E. Buizer-Voskamp and T. Hansen and K.D. Jakobsen and P. Muglia and C. Francks and P.M. Matthews and A. Gylfason and B.V. Halldorsson and D. Gudbjartsson and T.E. Thorgeirsson and A. Sigurdsson and A. Jonasdottir and A. Jonasdottir and A. Bjornsson and S. Mattiasdottir and T. Blondal and M. Haraldsson and B.B. Magnusdottir and I. Giegling and H.J. Moller and A. Hartmann and K.V. Shianna and D. Ge and A.C. Need and C. Crombie and G. Fraser and N. Walker and J. Lonnqvist and J. Suvisaari and A. Tuulio-Henriksson and T. Paunio and T. Toulopoulou and E. Bramon and Di, {Forti M.} and Wang, {August Gabriel} and H. Ullum and Jes Olesen and Thomas Werge and Wang, {August G} and Henrik Ullum and Jes Olesen and Wang, {August Gabriel}",
year = "2008",
doi = "10.1038/nature07229",
language = "English",
volume = "455",
pages = "232--6",
journal = "Nature Study",
issn = "0028-0860",
number = "7210",

}

RIS

TY - JOUR

T1 - Large recurrent microdeletions associated with schizophrenia

AU - Stefansson, H.

AU - Rujescu, D.

AU - Cichon, S.

AU - Pietilainen, O.P.

AU - Ingason, A.

AU - Steinberg, S.

AU - Fossdal, R.

AU - Sigurdsson, E.

AU - Sigmundsson, T.

AU - Buizer-Voskamp, J.E.

AU - Hansen, T.

AU - Jakobsen, K.D.

AU - Muglia, P.

AU - Francks, C.

AU - Matthews, P.M.

AU - Gylfason, A.

AU - Halldorsson, B.V.

AU - Gudbjartsson, D.

AU - Thorgeirsson, T.E.

AU - Sigurdsson, A.

AU - Jonasdottir, A.

AU - Jonasdottir, A.

AU - Bjornsson, A.

AU - Mattiasdottir, S.

AU - Blondal, T.

AU - Haraldsson, M.

AU - Magnusdottir, B.B.

AU - Giegling, I.

AU - Moller, H.J.

AU - Hartmann, A.

AU - Shianna, K.V.

AU - Ge, D.

AU - Need, A.C.

AU - Crombie, C.

AU - Fraser, G.

AU - Walker, N.

AU - Lonnqvist, J.

AU - Suvisaari, J.

AU - Tuulio-Henriksson, A.

AU - Paunio, T.

AU - Toulopoulou, T.

AU - Bramon, E.

AU - Di, Forti M.

AU - Wang, August Gabriel

AU - Ullum, H.

AU - Olesen, Jes

AU - Werge, Thomas

AU - Wang, August G

AU - Ullum, Henrik

AU - Olesen, Jes

AU - GROUP

PY - 2008

Y1 - 2008

N2 - 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.

AB - 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.

U2 - 10.1038/nature07229

DO - 10.1038/nature07229

M3 - Journal article

C2 - 18668039

VL - 455

SP - 232

EP - 236

JO - Nature Study

JF - Nature Study

SN - 0028-0860

IS - 7210

ER -

ID: 10928179