The 16p11.2 locus modulates brain structures common to autism, schizophrenia and obesity.
Détails
Télécharger: BIB_02ADC1E92D32.P001.pdf (1607.15 [Ko])
Etat: Public
Version: Final published version
Licence: CC BY 4.0
Etat: Public
Version: Final published version
Licence: CC BY 4.0
ID Serval
serval:BIB_02ADC1E92D32
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
The 16p11.2 locus modulates brain structures common to autism, schizophrenia and obesity.
Périodique
Molecular psychiatry
Collaborateur⸱rice⸱s
16p11.2 European Consortium
Contributeur⸱rice⸱s
Addor M.C., Andrieux J., Arveiler B., Baujat G., Bena F., Bonneau D., Bouquillon S., Boute O., Brusco A., Campion D., David A., Delrue M.A., Doco-Fenzy M., Fagerberg C., Faivre L., Forzano F., Giachino D., Guichet A., Guillin O., Héron D., Isidor B., Jacquette A., Journel H., Keren B., Le Caignec C., Lemaître M.P., Lespinasse J., Mathieu-Dramart M., Mignot C., Petit F., Plessis G., Prieur F., Rooryck C., Sanlaville D., Van Haelst M., Van Maldergem L.
ISSN
1476-5578 (Electronic)
ISSN-L
1359-4184
Statut éditorial
Publié
Date de publication
02/2015
Peer-reviewed
Oui
Volume
20
Numéro
1
Pages
140-147
Langue
anglais
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, U.S. Gov't, Non-P.H.S.
Publication Status: ppublish
Publication Status: ppublish
Résumé
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.
Mots-clé
Adolescent, Adult, Anthropometry, Arabidopsis Proteins/metabolism, Autistic Disorder/genetics, Autistic Disorder/pathology, Body Mass Index, Brain/pathology, Brain Mapping, Child, Chromosomes, Human, Pair 16/genetics, DNA Copy Number Variations/genetics, Female, Gene Dosage, Genetic Association Studies, Humans, Intramolecular Transferases/metabolism, Male, Middle Aged, Obesity/genetics, Obesity/pathology, Phenotype, Psychiatric Status Rating Scales, Schizophrenia/genetics, Schizophrenia/pathology, Young Adult
Pubmed
Web of science
Open Access
Oui
Création de la notice
26/11/2014 10:21
Dernière modification de la notice
11/01/2024 7:14