The 16p11.2 locus modulates brain structures common to autism, schizophrenia and obesity

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Version: author
Serval ID
serval:BIB_02ADC1E92D32
Type
Article: article from journal or magazin.
Collection
Publications
Title
The 16p11.2 locus modulates brain structures common to autism, schizophrenia and obesity
Journal
Molecular Psychiatry
Author(s)
Maillard A.M., Ruef A., Pizzagalli F., Migliavacca E., Hippolyte L., Adaszewski S., Dukart J., Ferrari C., Conus P., Männik K., Zazhytska M., Siffredi V., Maeder P., Kutalik Z., Kherif F., Hadjikhani N., Beckmann J.S., Beckmann J.S., Reymond A., Draganski B., Jacquemont S.
Working group(s)
16p11.2 European Consortium
ISSN
1476-5578 (Electronic)
ISSN-L
1359-4184
Publication state
Published
Issued date
11/2015
Peer-reviewed
Oui
Volume
20
Number
1
Pages
140-147
Language
english
Notes
IUMSP2015/02
Abstract
Anatomical structures and mechanisms linking genes to neuropsychiatric disorders are not deciphered. Reciprocal copy number variants at the 16p11.2 BP4-BP5 locus offer a unique opportunity to study the intermediate phenotypes in carriers at high risk for autism spectrum disorder (ASD) or schizophrenia (SZ). We investigated the variation in brain anatomy in 16p11.2 deletion and duplication carriers. Beyond gene dosage effects on global brain metrics, we show that the number of genomic copies negatively correlated to the gray matter volume and white matter tissue properties in cortico-subcortical regions implicated in reward, language and social cognition. Despite the near absence of ASD or SZ diagnoses in our 16p11.2 cohort, the pattern of brain anatomy changes in carriers spatially overlaps with the well-established structural abnormalities in ASD and SZ. Using measures of peripheral mRNA levels, we confirm our genomic copy number findings. This combined molecular, neuroimaging and clinical approach, applied to larger datasets, will help interpret the relative contributions of genes to neuropsychiatric conditions by measuring their effect on local brain anatomy.Molecular Psychiatry advance online publication, 25 November 2014; doi:10.1038/mp.2014.145.
Pubmed
Web of science
Open Access
Yes
Create date
26/11/2014 11:21
Last modification date
20/08/2019 13:24
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