Genetic copy number variants, cognition and psychosis: a meta-analysis and a family study
- Thygesen, Johan H.
- Presman, Amelia
- Harju-Seppänen, Jasmine
- Irizar, Haritz
- Jones, Rebecca
- Kuchenbaecker, Karoline
- Lin, Kuang
- Alizadeh, Behrooz Z.
- Austin-Zimmerman, Isabelle
- 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
- Díez-Revuelta, Álvaro
- 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
DOIAbstract
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)...
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