Genetic copy number variants, cognition and psychosis: a meta-analysis and a family study

Johan H. Thygesen; Amelia Presman; Jasmine Harju-Seppanen; Haritz Irizar; Rebecca Jones; Karoline Kuchenbaecker; Kuang Lin; Behrooz Z. Alizadeh; Isabell Austin-Zimmerman; Agna Bartels-Velthuis; Anjali Bhat; Richard Bruggeman; Wiepke Cahn; Stella Calafato; Benedicto Crespo-Facorro; Liewe de Haan; Sonja M. C. de Zwarte; Marta Di Forti; Alvaro Diez-Revuelta; Jeremy Hall; Mei-Hua Hall; Conrad Iyegbe; Assen Jablensky; Rene Kahn; Luba Kalaydjieva; Eugenia Kravariti; Stephen Lawrie; Jurjen J. Luykx; Igancio Mata; Colm McDonald; Andrew M. McIntosh; Andrew McQuillin; Rebecca Muir; Roel Ophoff; Marco Picchioni; Diana P. Prata; Siri Ranlund; Dan Rujescu; Bart P. F. Rutten; Katja Schulze; Madiha Shaikh; Frederike Schirmbeck; Claudia J. P. Simons; Timothea Toulopoulou; Therese van Amelsvoort; Neeltje van Haren; Jim van Os; Ruud van Winkel; Evangelos Vassos; Muriel Walshe; Matthias Weisbrod; Eirini Zartaloudi; Vaughan Bell; John Powell; Cathryn M. Lewis; Robin M. Murray; Elvira Bramon

doi:10.1038/s41380-020-0820-7

Genetic copy number variants, cognition and psychosis: a meta-analysis and a family study

Johan H. Thygesen, Amelia Presman, Jasmine Harju-Seppanen, Haritz Irizar, Rebecca Jones, Karoline Kuchenbaecker, Kuang Lin, Behrooz Z. Alizadeh, Isabell Austin-Zimmerman, Agna Bartels-Velthuis, Anjali Bhat, Richard Bruggeman, Wiepke Cahn, Stella Calafato, Benedicto Crespo-Facorro, Liewe de Haan, Sonja M. C. de Zwarte, Marta Di Forti, Alvaro Diez-Revuelta, Jeremy HallMei-Hua Hall, Conrad Iyegbe, Assen Jablensky, Rene Kahn, Luba Kalaydjieva, Eugenia Kravariti, Stephen Lawrie, Jurjen J. Luykx, Igancio Mata, Colm McDonald, Andrew M. McIntosh, Andrew McQuillin, Rebecca Muir, Roel Ophoff, Marco Picchioni, Diana P. Prata, Siri Ranlund, Dan Rujescu, Bart P. F. Rutten, Katja Schulze, Madiha Shaikh, Frederike Schirmbeck, Claudia J. P. Simons, Timothea Toulopoulou, Therese van Amelsvoort, Neeltje van Haren, Jim van Os, Ruud van Winkel, Evangelos Vassos, Muriel Walshe, Matthias Weisbrod, Eirini Zartaloudi, Vaughan Bell, John Powell, Cathryn M. Lewis, Robin M. Murray, Elvira Bramon^*

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

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Abstract

The burden of large and rare copy number genetic variants (CNVs) as well as certain specific CNVs increase the risk of developing schizophrenia. Several cognitive measures are purported schizophrenia endophenotypes and may represent an intermediate point between genetics and the illness. This paper investigates the influence of CNVs on cognition. We conducted a systematic review and meta-analysis of the literature exploring the effect of CNV burden on general intelligence. We included ten primary studies with a total of 18,847 participants and found no evidence of association. In a new psychosis family study, we investigated the effects of CNVs on specific cognitive abilities. We examined the burden of large and rare CNVs (>200 kb,

Original language	English
Number of pages	13
Journal	Molecular Psychiatry
DOIs	https://doi.org/10.1038/s41380-020-0820-7
Publication status	Published - 27-Jul-2020

Keywords

VERBAL MEMORY
SCHIZOPHRENIA
ABILITY
ASSOCIATION
PHENOTYPE
DELETIONS
DEFICITS
16P11.2
RISK
DUPLICATIONS

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Thygesen, J. H., Presman, A., Harju-Seppanen, J., Irizar, H., Jones, R., Kuchenbaecker, K., Lin, K., Alizadeh, B. Z., Austin-Zimmerman, I., Bartels-Velthuis, A., Bhat, A., Bruggeman, R., Cahn, W., Calafato, S., Crespo-Facorro, B., de Haan, L., de Zwarte, S. M. C., Di Forti, M., Diez-Revuelta, A., ... Bramon, E. (2020). Genetic copy number variants, cognition and psychosis: a meta-analysis and a family study. Molecular Psychiatry. https://doi.org/10.1038/s41380-020-0820-7

Thygesen, Johan H. ; Presman, Amelia ; Harju-Seppanen, Jasmine ; Irizar, Haritz ; Jones, Rebecca ; Kuchenbaecker, Karoline ; Lin, Kuang ; Alizadeh, Behrooz Z. ; Austin-Zimmerman, Isabell ; Bartels-Velthuis, Agna ; Bhat, Anjali ; Bruggeman, Richard ; Cahn, Wiepke ; Calafato, Stella ; Crespo-Facorro, Benedicto ; de Haan, Liewe ; de Zwarte, Sonja M. C. ; Di Forti, Marta ; Diez-Revuelta, Alvaro ; Hall, Jeremy ; Hall, Mei-Hua ; Iyegbe, Conrad ; Jablensky, Assen ; Kahn, Rene ; Kalaydjieva, Luba ; Kravariti, Eugenia ; Lawrie, Stephen ; Luykx, Jurjen J. ; Mata, Igancio ; McDonald, Colm ; McIntosh, Andrew M. ; McQuillin, Andrew ; Muir, Rebecca ; Ophoff, Roel ; Picchioni, Marco ; Prata, Diana P. ; Ranlund, Siri ; Rujescu, Dan ; Rutten, Bart P. F. ; Schulze, Katja ; Shaikh, Madiha ; Schirmbeck, Frederike ; Simons, Claudia J. P. ; Toulopoulou, Timothea ; van Amelsvoort, Therese ; van Haren, Neeltje ; van Os, Jim ; van Winkel, Ruud ; Vassos, Evangelos ; Walshe, Muriel ; Weisbrod, Matthias ; Zartaloudi, Eirini ; Bell, Vaughan ; Powell, John ; Lewis, Cathryn M. ; Murray, Robin M. ; Bramon, Elvira. / Genetic copy number variants, cognition and psychosis : a meta-analysis and a family study. In: Molecular Psychiatry. 2020.

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title = "Genetic copy number variants, cognition and psychosis: a meta-analysis and a family study",

abstract = "The burden of large and rare copy number genetic variants (CNVs) as well as certain specific CNVs increase the risk of developing schizophrenia. Several cognitive measures are purported schizophrenia endophenotypes and may represent an intermediate point between genetics and the illness. This paper investigates the influence of CNVs on cognition. We conducted a systematic review and meta-analysis of the literature exploring the effect of CNV burden on general intelligence. We included ten primary studies with a total of 18,847 participants and found no evidence of association. In a new psychosis family study, we investigated the effects of CNVs on specific cognitive abilities. We examined the burden of large and rare CNVs (>200 kb,",

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doi = "10.1038/s41380-020-0820-7",

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Thygesen, JH, Presman, A, Harju-Seppanen, J, Irizar, H, Jones, R, Kuchenbaecker, K, Lin, K, Alizadeh, BZ, Austin-Zimmerman, I, Bartels-Velthuis, A, Bhat, A, Bruggeman, R, Cahn, W, Calafato, S, Crespo-Facorro, B, de Haan, L, de Zwarte, SMC, Di Forti, M, Diez-Revuelta, A, Hall, J, Hall, M-H, Iyegbe, C, Jablensky, A, Kahn, R, Kalaydjieva, L, Kravariti, E, Lawrie, S, Luykx, JJ, Mata, I, McDonald, C, McIntosh, AM, McQuillin, A, Muir, R, Ophoff, R, Picchioni, M, Prata, DP, Ranlund, S, Rujescu, D, Rutten, BPF, Schulze, K, Shaikh, M, Schirmbeck, F, Simons, CJP, Toulopoulou, T, van Amelsvoort, T, van Haren, N, van Os, J, van Winkel, R, Vassos, E, Walshe, M, Weisbrod, M, Zartaloudi, E, Bell, V, Powell, J, Lewis, CM, Murray, RM & Bramon, E 2020, 'Genetic copy number variants, cognition and psychosis: a meta-analysis and a family study', Molecular Psychiatry. https://doi.org/10.1038/s41380-020-0820-7

Genetic copy number variants, cognition and psychosis : a meta-analysis and a family study. / Thygesen, Johan H.; Presman, Amelia; Harju-Seppanen, Jasmine; Irizar, Haritz; Jones, Rebecca; Kuchenbaecker, Karoline; Lin, Kuang; Alizadeh, Behrooz Z.; Austin-Zimmerman, Isabell; Bartels-Velthuis, Agna; Bhat, Anjali; Bruggeman, Richard; Cahn, Wiepke; Calafato, Stella; Crespo-Facorro, Benedicto; de Haan, Liewe; de Zwarte, Sonja M. C.; Di Forti, Marta; Diez-Revuelta, Alvaro; Hall, Jeremy; Hall, Mei-Hua; Iyegbe, Conrad; Jablensky, Assen; Kahn, Rene; Kalaydjieva, Luba; Kravariti, Eugenia; Lawrie, Stephen; Luykx, Jurjen J.; Mata, Igancio; McDonald, Colm; McIntosh, Andrew M.; McQuillin, Andrew; Muir, Rebecca; Ophoff, Roel; Picchioni, Marco; Prata, Diana P.; Ranlund, Siri; Rujescu, Dan; Rutten, Bart P. F.; Schulze, Katja; Shaikh, Madiha; Schirmbeck, Frederike; Simons, Claudia J. P.; Toulopoulou, Timothea; van Amelsvoort, Therese; van Haren, Neeltje; van Os, Jim; van Winkel, Ruud; Vassos, Evangelos; Walshe, Muriel; Weisbrod, Matthias; Zartaloudi, Eirini; Bell, Vaughan; Powell, John; Lewis, Cathryn M.; Murray, Robin M.; Bramon, Elvira.

In: Molecular Psychiatry, 27.07.2020.

Research output: Contribution to journal › Article › Academic › peer-review

TY - JOUR

T1 - Genetic copy number variants, cognition and psychosis

T2 - a meta-analysis and a family study

AU - Thygesen, Johan H.

AU - Presman, Amelia

AU - Harju-Seppanen, Jasmine

AU - Irizar, Haritz

AU - Jones, Rebecca

AU - Kuchenbaecker, Karoline

AU - Lin, Kuang

AU - Alizadeh, Behrooz Z.

AU - Austin-Zimmerman, Isabell

AU - Bartels-Velthuis, Agna

AU - Bhat, Anjali

AU - Bruggeman, Richard

AU - Cahn, Wiepke

AU - Calafato, Stella

AU - Crespo-Facorro, Benedicto

AU - de Haan, Liewe

AU - de Zwarte, Sonja M. C.

AU - Di Forti, Marta

AU - Diez-Revuelta, Alvaro

AU - Hall, Jeremy

AU - Hall, Mei-Hua

AU - Iyegbe, Conrad

AU - Jablensky, Assen

AU - Kahn, Rene

AU - Kalaydjieva, Luba

AU - Kravariti, Eugenia

AU - Lawrie, Stephen

AU - Luykx, Jurjen J.

AU - Mata, Igancio

AU - McDonald, Colm

AU - McIntosh, Andrew M.

AU - McQuillin, Andrew

AU - Muir, Rebecca

AU - Ophoff, Roel

AU - Picchioni, Marco

AU - Prata, Diana P.

AU - Ranlund, Siri

AU - Rujescu, Dan

AU - Rutten, Bart P. F.

AU - Schulze, Katja

AU - Shaikh, Madiha

AU - Schirmbeck, Frederike

AU - Simons, Claudia J. P.

AU - Toulopoulou, Timothea

AU - van Amelsvoort, Therese

AU - van Haren, Neeltje

AU - van Os, Jim

AU - van Winkel, Ruud

AU - Vassos, Evangelos

AU - Walshe, Muriel

AU - Weisbrod, Matthias

AU - Zartaloudi, Eirini

AU - Bell, Vaughan

AU - Powell, John

AU - Lewis, Cathryn M.

AU - Murray, Robin M.

AU - Bramon, Elvira

PY - 2020/7/27

Y1 - 2020/7/27

N2 - The burden of large and rare copy number genetic variants (CNVs) as well as certain specific CNVs increase the risk of developing schizophrenia. Several cognitive measures are purported schizophrenia endophenotypes and may represent an intermediate point between genetics and the illness. This paper investigates the influence of CNVs on cognition. We conducted a systematic review and meta-analysis of the literature exploring the effect of CNV burden on general intelligence. We included ten primary studies with a total of 18,847 participants and found no evidence of association. In a new psychosis family study, we investigated the effects of CNVs on specific cognitive abilities. We examined the burden of large and rare CNVs (>200 kb,

AB - The burden of large and rare copy number genetic variants (CNVs) as well as certain specific CNVs increase the risk of developing schizophrenia. Several cognitive measures are purported schizophrenia endophenotypes and may represent an intermediate point between genetics and the illness. This paper investigates the influence of CNVs on cognition. We conducted a systematic review and meta-analysis of the literature exploring the effect of CNV burden on general intelligence. We included ten primary studies with a total of 18,847 participants and found no evidence of association. In a new psychosis family study, we investigated the effects of CNVs on specific cognitive abilities. We examined the burden of large and rare CNVs (>200 kb,

KW - VERBAL MEMORY

KW - SCHIZOPHRENIA

KW - ABILITY

KW - ASSOCIATION

KW - PHENOTYPE

KW - DELETIONS

KW - DEFICITS

KW - 16P11.2

KW - RISK

KW - DUPLICATIONS

U2 - 10.1038/s41380-020-0820-7

DO - 10.1038/s41380-020-0820-7

M3 - Article

JO - Molecular Psychiatry

JF - Molecular Psychiatry

SN - 1359-4184

ER -