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Thygesen, J. H., Presman, A., Harju-Seppänen, J., Irizar, H., Jones, R., Kuchenbaecker, K....Bramon, E. (2021). Genetic copy number variants, cognition and psychosis: a meta-analysis and a family study. Molecular Psychiatry. 26, 5307-5319

J. H. Thygesen et al.,  "Genetic copy number variants, cognition and psychosis: a meta-analysis and a family study", in Molecular Psychiatry, vol. 26, pp. 5307-5319, 2021

@article{thygesen2021_1734633033027,
	author = "Thygesen, J. H. and Presman, A. and Harju-Seppänen, J. and Irizar, H. and Jones, R. and Kuchenbaecker, K. and Lin, K. and Alizadeh, B. Z. and Austin-Zimmerman, I. and Bartels-Velthuis, A. and Bhat, A. and Bruggeman, R. and Cahn, W. and Calafato, S. and Crespo-Facorro, B. and De Haan, L. and De Zwarte, S. M. C. and Di Forti, M. and Díez-Revuelta, Á. and Hall, J. and Hall, M.-H. and Iyegbe, C. and Jablensky, A. and Kahn, R. and Kalaydjieva, L. and Kravariti, E. and Lawrie, S. and Luykx, J. J. and Mata, I. and McDonald, C. and McIntosh, A. M. and McQuillin, A. and Muir, R. and Ophoff, R. and Picchioni, M. and Prata, D. P. and Ranlund, S. and Rujescu, D. and Rutten, B. P. F. and Schulze, K. and Shaikh, M. and Schirmbeck, F. and Simons, C. J. P. and Toulopoulou, T. and Van Amelsvoort, T. and Van Haren, N. and Van Os, J. and Van Winkel, R. and Vassos, E. and Walshe, M. and Weisbrod, M. and Zartaloudi, E. and Bell, V. and Powell, J. and Lewis, C. M. and Murray, R. M. and Bramon, E.",
	title = "Genetic copy number variants, cognition and psychosis: a meta-analysis and a family study",
	journal = "Molecular Psychiatry",
	year = "2021",
	volume = "26",
	number = "",
	doi = "10.1038/s41380-020-0820-7",
	pages = "5307-5319",
	url = "http://www.nature.com/mp/"
}

TY  - JOUR
TI  - Genetic copy number variants, cognition and psychosis: a meta-analysis and a family study
T2  - Molecular Psychiatry
VL  - 26
AU  - Thygesen, J. H.
AU  - Presman, A.
AU  - Harju-Seppänen, J.
AU  - Irizar, H.
AU  - Jones, R.
AU  - Kuchenbaecker, K.
AU  - Lin, K.
AU  - Alizadeh, B. Z.
AU  - Austin-Zimmerman, I.
AU  - Bartels-Velthuis, A.
AU  - Bhat, A.
AU  - Bruggeman, R.
AU  - Cahn, W.
AU  - Calafato, S.
AU  - Crespo-Facorro, B.
AU  - De Haan, L.
AU  - De Zwarte, S. M. C.
AU  - Di Forti, M.
AU  - Díez-Revuelta, Á.
AU  - Hall, J.
AU  - Hall, M.-H.
AU  - Iyegbe, C.
AU  - Jablensky, A.
AU  - Kahn, R.
AU  - Kalaydjieva, L.
AU  - Kravariti, E.
AU  - Lawrie, S.
AU  - Luykx, J. J.
AU  - Mata, I.
AU  - McDonald, C.
AU  - McIntosh, A. M.
AU  - McQuillin, A.
AU  - Muir, R.
AU  - Ophoff, R.
AU  - Picchioni, M.
AU  - Prata, D. P.
AU  - Ranlund, S.
AU  - Rujescu, D.
AU  - Rutten, B. P. F.
AU  - Schulze, K.
AU  - Shaikh, M.
AU  - Schirmbeck, F.
AU  - Simons, C. J. P.
AU  - Toulopoulou, T.
AU  - Van Amelsvoort, T.
AU  - Van Haren, N.
AU  - Van Os, J.
AU  - Van Winkel, R.
AU  - Vassos, E.
AU  - Walshe, M.
AU  - Weisbrod, M.
AU  - Zartaloudi, E.
AU  - Bell, V.
AU  - Powell, J.
AU  - Lewis, C. M.
AU  - Murray, R. M.
AU  - Bramon, E.
PY  - 2021
SP  - 5307-5319
SN  - 1359-4184
DO  - 10.1038/s41380-020-0820-7
UR  - http://www.nature.com/mp/
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, <1% MAF) as well as known schizophrenia-associated CNVs in patients with psychotic disorders, their unaffected relatives and controls (N = 3428) from the Psychosis Endophenotypes International Consortium (PEIC). The carriers of specific schizophrenia-associated CNVs showed poorer performance than non-carriers in immediate (P = 0.0036) and delayed (P = 0.0115) verbal recall. We found suggestive evidence that carriers of schizophrenia-associated CNVs had poorer block design performance (P = 0.0307). We do not find any association between CNV burden and cognition. Our findings show that the known high-risk CNVs are not only associated with schizophrenia and other neurodevelopmental disorders, but are also a contributing factor to impairment in cognitive domains such as memory and perceptual reasoning, and act as intermediate biomarkers of disease risk.
ER  -