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Quantifying the Eff...
Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study
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Martin-Brevet, S. (author)
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Rodriguez-Herreros, B. (author)
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Nielsen, J. A. (author)
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Moreau, C. (author)
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Modenato, C. (author)
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Maillard, A. M. (author)
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Pain, A. (author)
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Richetin, S. (author)
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Jonch, A. E. (author)
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Qureshi, A. Y. (author)
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Zurcher, N. R. (author)
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Conus, P. (author)
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Chung, W. K. (author)
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Sherr, E. H. (author)
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Spiro, J. E. (author)
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Kherif, F. (author)
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Beckmann, J. S. (author)
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- Hadjikhani, Nouchine, 1966 (author)
- Gothenburg University,Göteborgs universitet,Gillbergcentrum,Gillberg Neuropsychiatry Centre
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Reymond, A. (author)
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Buckner, R. L. (author)
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Draganski, B. (author)
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Jacquemont, S. (author)
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(creator_code:org_t)
- Elsevier BV, 2018
- 2018
- English.
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In: Biological Psychiatry. - : Elsevier BV. - 0006-3223. ; 84:4, s. 253-264
- Related links:
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http://www.biologica...
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https://gup.ub.gu.se...
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https://doi.org/10.1...
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Abstract
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- 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, 21), 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.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Psykiatri (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Psychiatry (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Neurovetenskaper (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Neurosciences (hsv//eng)
Keyword
- 16p11.2
- Autism spectrum disorder
- Copy number variant
- Genetics
- Imaging
- Neurodevelopmental
- autism spectrum disorder
- human cerebral-cortex
- deletion syndrome
- williams-syndrome
- mouse models
- schizophrenia
- abnormalities
- cognition
- behavior
- locus
- Neurosciences & Neurology
- Psychiatry
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
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Martin-Brevet, S ...
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Rodriguez-Herrer ...
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Nielsen, J. A.
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Moreau, C.
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Modenato, C.
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Maillard, A. M.
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show more...
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Pain, A.
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Richetin, S.
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Jonch, A. E.
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Qureshi, A. Y.
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Zurcher, N. R.
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Conus, P.
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Chung, W. K.
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Sherr, E. H.
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Spiro, J. E.
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Kherif, F.
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Beckmann, J. S.
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Hadjikhani, Nouc ...
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Reymond, A.
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Buckner, R. L.
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Draganski, B.
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Jacquemont, S.
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show less...
- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Psychiatry
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Neurosciences
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Biological Psych ...
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University of Gothenburg