| Title: |
The 16p11.2 locus modulates brain structures common to autism, schizophrenia and obesity. |
| Authors: |
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; 1.6.p.1.1. 2 European Consortium including Addor MC; Andrieux J; Arveiler B; Baujat G; Béna F; Bouquillon S; Boute O; Campion D; David A; Delrue MA; Doco Fenzy M; Fagerberg C; Faivre L; Forzano F; Guichet A; Guillin O; Héron D; Isidor B; Jacquette A; Journel H; Keren B; Lacombe D; Le Caignec C; Lespinasse J; Mathieu Dramard M; Mignot C; Petit F; Plessis G; Prieur F; Sanlaville D; Van Haelst M; Van Maldergem L.; BRUSCO, Alfredo; GIACHINO, Daniela Francesca; MANDRILE, Giorgia |
| Contributors: |
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; 16p11.2 European Consortium including Addor MC; Andrieux J; Arveiler B; Baujat G; Béna F; Bouquillon S; Boute O; Brusco A; Campion D; David A; Delrue MA; 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; Lacombe D; Le Caignec C; Lespinasse J; Mandrile G; Mathieu-Dramard M; Mignot C; Petit F; Plessis G; Prieur F; Sanlaville D; Van Haelst M; Van Maldergem L |
| Publication Year: |
2015 |
| Collection: |
Università degli studi di Torino: AperTo (Archivio Istituzionale ad Accesso Aperto) |
| Subject Terms: |
Adolescent; Adult; Anthropometry; Arabidopsis Protein; Autistic Disorder; Body Mass Index; Brain; Brain Mapping; Child; Chromosomes; Human; Pair 16; DNA Copy Number Variation; Female; Gene Dosage; Genetic Association Studie; Intramolecular Transferase; Male; Middle Aged; Obesity; Phenotype; Psychiatric Status Rating Scale; Schizophrenia; Young Adult |
| Description: |
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. |
| Document Type: |
article in journal/newspaper |
| Language: |
English |
| Relation: |
info:eu-repo/semantics/altIdentifier/pmid/25421402; info:eu-repo/semantics/altIdentifier/wos/WOS:000349403400015; volume:20; issue:1; firstpage:140; lastpage:147; numberofpages:8; journal:MOLECULAR PSYCHIATRY; http://hdl.handle.net/2318/152956; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84961348340; http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4320286/; http://www.nature.com/mp/journal/v20/n1/pdf/mp2014145a.pdf |
| DOI: |
10.1038/mp.2014.145 |
| Availability: |
http://hdl.handle.net/2318/152956; https://doi.org/10.1038/mp.2014.145; http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4320286/; http://www.nature.com/mp/journal/v20/n1/pdf/mp2014145a.pdf |
| Rights: |
info:eu-repo/semantics/openAccess |
| Accession Number: |
edsbas.586029CA |
| Database: |
BASE |