The 16p11.2 locus modulates brain structures common to autism, schizophrenia and obesity
| العنوان: | The 16p11.2 locus modulates brain structures common to autism, schizophrenia and obesity |
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| المؤلفون: | Maillard, Am, 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, Js, Reymond, A, Draganski, B, Jacquemont, S, 2 European Consortium including Addor MC, 1. 6. p. 1. 1., Andrieux, J, Arveiler, B, Baujat, G, Béna, F, Bouquillon, S, Boute, O, Brusco, Alfredo, Campion, D, David, A, Delrue, Ma, Doco Fenzy, M, Fagerberg, C, Faivre, L, Forzano, F, Giachino, Daniela Francesca, Guichet, A, Guillin, O, Héron, D, Isidor, B, Jacquette, A, Journel, H, Keren, B, Lacombe, D, Le Caignec, C, Lespinasse, J, Mandrile, Giorgia, Mathieu Dramard, M, Mignot, C, Petit, F, Plessis, G, Prieur, F, Sanlaville, D, Van Haelst, M, Van Maldergem, L. |
| المساهمون: | 16p11.2 European Consortium, Other departments |
| المصدر: | Molecular Psychiatry MOLECULAR PSYCHIATRY Molecular Psychiatry, vol. 20, no. 1, pp. 140-147 Molecular psychiatry, 20(1), 140-147. Nature Publishing Group Molecular psychiatry |
| سنة النشر: | 2015 |
| مصطلحات موضوعية: | Adult, Male, Adolescent, DNA Copy Number Variations, Gene Dosage, Chromosomes, Body Mass Index, Young Adult, Humans, Anthropometry, Arabidopsis Proteins, Autistic Disorder, Brain, Brain Mapping, Child, Chromosomes, Human, Pair 16, Female, Genetic Association Studies, Intramolecular Transferases, Middle Aged, Obesity, Phenotype, Psychiatric Status Rating Scales, Schizophrenia, Pair 16, Original Article, Human |
| الوصف: | 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. |
| وصف الملف: | application/pdf |
| اللغة: | English |
| تدمد: | 1359-4184 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::daf4d6c0c2411b2a6b84ffb5aab79eba https://hdl.handle.net/21.11116/0000-0001-B87A-711858/00-001M-0000-0029-AC39-6 |
| حقوق: | OPEN |
| رقم الأكسشن: | edsair.pmid.dedup....daf4d6c0c2411b2a6b84ffb5aab79eba |
| قاعدة البيانات: | OpenAIRE |
Find this article in full text from Springer Verlag. | تدمد: | 13594184 |
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