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

DSpace/Manakin Repository

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

Citable link to this page

 

 
Title: The 16p11.2 locus modulates brain structures common to autism, schizophrenia and obesity
Author: 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; Reymond, A; Draganski, B; Jacquemont, S

Note: Order does not necessarily reflect citation order of authors.

Citation: Maillard, A. M., A. Ruef, F. Pizzagalli, E. Migliavacca, L. Hippolyte, S. Adaszewski, J. Dukart, et al. 2015. “The 16p11.2 locus modulates brain structures common to autism, schizophrenia and obesity.” Molecular Psychiatry 20 (1): 140-147. doi:10.1038/mp.2014.145. http://dx.doi.org/10.1038/mp.2014.145.
Full Text & Related Files:
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.
Published Version: doi:10.1038/mp.2014.145
Other Sources: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4320286/pdf/
Terms of Use: This article is made available under the terms and conditions applicable to Other Posted Material, as set forth at http://nrs.harvard.edu/urn-3:HUL.InstRepos:dash.current.terms-of-use#LAA
Citable link to this page: http://nrs.harvard.edu/urn-3:HUL.InstRepos:14065530
Downloads of this work:

Show full Dublin Core record

This item appears in the following Collection(s)

 
 

Search DASH


Advanced Search
 
 

Submitters