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

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    Author
    Maillard, AM; Ruef, A; Pizzagalli, F; Migliavacca, E; Hippolyte, L; Adaszewski, S; Dukart, J; Ferrari, C; Conus, P; Männik, K; ...
    Date
    2015-02
    Source Title
    Molecular Psychiatry
    Publisher
    Springer Science and Business Media LLC
    University of Melbourne Author/s
    Conus, Philippe
    Affiliation
    Centre for Youth Mental Health
    Metadata
    Show full item record
    Document Type
    Journal Article
    Citations
    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. ,... 16p11.2 European Consortium (2015). The 16p11.2 locus modulates brain structures common to autism, schizophrenia and obesity.. Mol Psychiatry, 20 (1), pp.140-147. https://doi.org/10.1038/mp.2014.145.
    Access Status
    Open Access
    URI
    http://hdl.handle.net/11343/256239
    DOI
    10.1038/mp.2014.145
    Open Access at PMC
    http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4320286
    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.

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