Giovanni Giaroli1, Nicholas Bass2, Andre Strydom2, Khadijia Rantell2, Andrew McQuillin3. 1. Division of Psychiatry, University College London, United Kingdom; North East London Foundation NHS Trust, London, United Kingdom; Cognition, Schizophrenia & Imaging Laboratory, Department of Psychosis Studies, The Institute of Psychiatry, King's College London, United Kingdom. 2. Division of Psychiatry, University College London, United Kingdom. 3. Division of Psychiatry, University College London, United Kingdom. Electronic address: a.mcquillin@ucl.ac.uk.
Abstract
BACKGROUND: In the last 5 years an increasing number of studies have found that individuals who have micro-duplications at 16p11.2 may have an increased risk of mental disorders including psychotic syndromes. OBJECTIVE: Our main aim was to review all the evidence in the literature for the association between copy number variants (CNVs) at 16p11.2 and psychosis. METHODS: We have conducted a systematic review and a meta-analysis utilising the PRISMA statement criteria. We included all original studies (published in English) which presented data on CNVs at 16p11.2 in patients affected by schizophrenia, schizoaffective disorder or bipolar disorder. RESULTS: We retrieved 15 articles which fulfilled our inclusion criteria. Eleven articles were subsequently selected for a meta-analysis that showed a 10 fold increased risk of psychosis in patients with proximal 16p11.2 duplications. We conducted a second meta-analysis of those studies with low risk of overlap in order to obtain the largest possible sample with the lowest risk of repeated results: 5 studies were selected and we found an odds ratio (OR) of 14.4 (CI=5.2-39.8; p<0.001) for psychosis with proximal 16p11.2 duplications. The results were not significant for micro-deletions in the same region. Finally extracting only those studies that included patients with schizophrenia we found an OR=16.0 (CI=5.4-47.3: p<0.001) CONCLUSIONS: There is a fourteen fold-increased risk of psychosis and a sixteen fold increased risk of schizophrenia in individuals with micro-duplication at proximal 16p11.2.
BACKGROUND: In the last 5 years an increasing number of studies have found that individuals who have micro-duplications at 16p11.2 may have an increased risk of mental disorders including psychotic syndromes. OBJECTIVE: Our main aim was to review all the evidence in the literature for the association between copy number variants (CNVs) at 16p11.2 and psychosis. METHODS: We have conducted a systematic review and a meta-analysis utilising the PRISMA statement criteria. We included all original studies (published in English) which presented data on CNVs at 16p11.2 in patients affected by schizophrenia, schizoaffective disorder or bipolar disorder. RESULTS: We retrieved 15 articles which fulfilled our inclusion criteria. Eleven articles were subsequently selected for a meta-analysis that showed a 10 fold increased risk of psychosis in patients with proximal 16p11.2 duplications. We conducted a second meta-analysis of those studies with low risk of overlap in order to obtain the largest possible sample with the lowest risk of repeated results: 5 studies were selected and we found an odds ratio (OR) of 14.4 (CI=5.2-39.8; p<0.001) for psychosis with proximal 16p11.2 duplications. The results were not significant for micro-deletions in the same region. Finally extracting only those studies that included patients with schizophrenia we found an OR=16.0 (CI=5.4-47.3: p<0.001) CONCLUSIONS: There is a fourteen fold-increased risk of psychosis and a sixteen fold increased risk of schizophrenia in individuals with micro-duplication at proximal 16p11.2.
Authors: Hannah Pinson; Richard S Smith; Maria Sundberg; Kellen D Winden; Pooja Venugopal; Derek J C Tai; James F Gusella; Michael E Talkowski; Christopher A Walsh; Max Tegmark; Mustafa Sahin Journal: Nat Commun Date: 2021-05-18 Impact factor: 14.919
Authors: LeeAnne Green Snyder; Debra D'Angelo; Qixuan Chen; Raphael Bernier; Robin P Goin-Kochel; Arianne Stevens Wallace; Jennifer Gerdts; Stephen Kanne; Leandra Berry; Lisa Blaskey; Emily Kuschner; Timothy Roberts; Elliot Sherr; Christa L Martin; David H Ledbetter; John E Spiro; Wendy K Chung; Ellen Hanson Journal: J Autism Dev Disord Date: 2016-08
Authors: Johan H Thygesen; Amelia Presman; Jasmine Harju-Seppänen; Haritz Irizar; Rebecca Jones; Karoline Kuchenbaecker; Kuang Lin; Behrooz Z Alizadeh; Isabelle 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; Álvaro Díez-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 Journal: Mol Psychiatry Date: 2020-07-27 Impact factor: 15.992