Association of Copy Number Variation of the 15q11.2 BP1-BP2 Region with Cortical and Subcortical Morphology and Cognition

D Van Der Meer; IE Sønderby; T Kaufmann; GB Walters; A Abdellaoui; D Ames; K Amunts; M Andersson; NJ Armstrong; M Bernard; NB Blackburn; J Blangero; DI Boomsma; H Brodaty; RM Brouwer; R Bülow; W Cahn; VD Calhoun; S Caspers; GL Cavalleri; CRK Ching; S Cichon; S Ciufolini; A Corvin; B Crespo-Facorro; JE Curran; S Dalvie; P Dazzan; EJC De Geus; GI De Zubicaray; SMC De Zwarte; N Delanty; A Den Braber; S Desrivieres; M Di Forti; JL Doherty; G Donohoe; S Ehrlich; E Eising; T Espeseth; SE Fisher; T Fladby; O Frei; V Frouin; M Fukunaga; T Gareau; DC Glahn; HJ Grabe; NA Groenewold; Ó Gústafsson; J Haavik; AK Haberg; R Hashimoto; JY Hehir-Kwa; DP Hibar; MHJ Hillegers; P Hoffmann; L Holleran; JJ Hottenga; HE Hulshoff Pol; M Ikeda; S Jacquemont; N Jahanshad; C Jockwitz; S Johansson; EG Jönsson; M Kikuchi; EEM Knowles; JB Kwok; S Le Hellard; DEJ Linden; J Liu; A Lundervold; AJ Lundervold; NG Martin; KA Mather; SR Mathias; KL McMahon; AF McRae; SE Medland; T Moberget; C Moreau; DW Morris; TW Mühleisen; RM Murray; JE Nordvik; L Nyberg; LM Olde Loohuis; RA Ophoff; MJ Owen; T Paus; Z Pausova; JM Peralta; B Pike; C Prieto; EB Quinlan; CS Reinbold; T Reis Marques; JJH Rucker; PS Sachdev

Journal article

Association of Copy Number Variation of the 15q11.2 BP1-BP2 Region with Cortical and Subcortical Morphology and Cognition

D Van Der Meer, IE Sønderby, T Kaufmann, GB Walters, A Abdellaoui, D Ames, K Amunts, M Andersson, NJ Armstrong, M Bernard, NB Blackburn, J Blangero, DI Boomsma, H Brodaty, RM Brouwer, R Bülow, W Cahn, VD Calhoun, S Caspers, GL Cavalleri Show all

JAMA Psychiatry | AMER MEDICAL ASSOC | Published : 2020

DOI: 10.1001/jamapsychiatry.2019.3779

Open access

Abstract

Importance: Recurrent microdeletions and duplications in the genomic region 15q11.2 between breakpoints 1 (BP1) and 2 (BP2) are associated with neurodevelopmental disorders. These structural variants are present in 0.5% to 1.0% of the population, making 15q11.2 BP1-BP2 the site of the most prevalent known pathogenic copy number variation (CNV). It is unknown to what extent this CNV influences brain structure and affects cognitive abilities. Objective: To determine the association of the 15q11.2 BP1-BP2 deletion and duplication CNVs with cortical and subcortical brain morphology and cognitive task performance. Design, Setting, and Participants: In this genetic association study, T1-weighted b..

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University of Melbourne Researchers

David Ames Author

Grants

Awarded by Hersenstichting

Funding Acknowledgements

This study is supported in part by grants U54 EB20403, R01MH116147, and R56AG058854 from the National Institutes of Health, grant 609020 from the European Union Seventh Framework Programme, and grants 223273 and 276082 from the Research Council Norway. Part of this work was performed using the Service for Sensitive Data (TSD), which is developed and operated by the TSD Service Group and owned by the University of Oslo. Additional funding details can be found in eAppendix 2 in Supplement 1.