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 journalArticleAcademicpeer-review

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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 languageEnglish
Number of pages13
JournalMolecular Psychiatry
Publication statusPublished - 27-Jul-2020


  • 16P11.2
  • RISK

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