English
 
Help Privacy Policy Disclaimer
  Advanced SearchBrowse

Item

ITEM ACTIONSEXPORT

Released

Journal Article

Quantifying the effects of 16p11.2 copy number variants on brain structure: A multisite genetic-first study

MPS-Authors
/persons/resource/persons19617

Draganski,  Bogdan
External Organizations;
Department Neurology, MPI for Human Cognitive and Brain Sciences, Max Planck Society;

External Resource
No external resources are shared
Fulltext (restricted access)
There are currently no full texts shared for your IP range.
Fulltext (public)
Supplementary Material (public)
There is no public supplementary material available
Citation

Martin-Brevet, S., Rodríguez-Herreros, B., Nielsen, J. A., Moreau, C., Modenato, C., Maillard, A. M., et al. (2018). Quantifying the effects of 16p11.2 copy number variants on brain structure: A multisite genetic-first study. Biological Psychiatry, 84(4), 253-264. doi:10.1016/j.biopsych.2018.02.1176.


Cite as: https://hdl.handle.net/21.11116/0000-0001-6AE8-3
Abstract
Background: 16p11.2 breakpoint 4 to 5 copy number variants (CNVs) increase the risk for developing autism spectrum disorder, schizophrenia, and language and cognitive impairment. In this multisite study, we aimed to quantify the effect of 16p11.2 CNVs on brain structure. Methods: Using voxel- and surface-based brain morphometric methods, we analyzed structural magnetic resonance imaging collected at seven sites from 78 individuals with a deletion, 71 individuals with a duplication, and 212 individuals without a CNV. Results: Beyond the 16p11.2-related mirror effect on global brain morphometry, we observe regional mirror differences in the insula (deletion > control > duplication). Other regions are preferentially affected by either the deletion or the duplication: the calcarine cortex and transverse temporal gyrus (deletion > control; Cohen's d > 1), the superior and middle temporal gyri (deletion < control; Cohen's d < −1), and the caudate and hippocampus (control > duplication; −0.5 > Cohen's d > −1). Measures of cognition, language, and social responsiveness and the presence of psychiatric diagnoses do not influence these results. Conclusions: The global and regional effects on brain morphometry due to 16p11.2 CNVs generalize across site, computational method, age, and sex. Effect sizes on neuroimaging and cognitive traits are comparable. Findings partially overlap with results of meta-analyses performed across psychiatric disorders. However, the lack of correlation between morphometric and clinical measures suggests that CNV-associated brain changes contribute to clinical manifestations but require additional factors for the development of the disorder. These findings highlight the power of genetic risk factors as a complement to studying groups defined by behavioral criteria.