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Your search keyword '"Adaszewski, S"' showing total 2 results
Start Over Author "Adaszewski, S" Topic dna copy number variations
2 results on '"Adaszewski, S"'

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

Author

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, and Jacquemont S

Subjects
Adolescent, Adult, Anthropometry, Arabidopsis Proteins metabolism, Autistic Disorder pathology, Body Mass Index, Brain Mapping, Child, Female, Gene Dosage, Genetic Association Studies, Humans, Intramolecular Transferases metabolism, Male, Middle Aged, Obesity pathology, Phenotype, Psychiatric Status Rating Scales, Schizophrenia pathology, Young Adult, Autistic Disorder genetics, Brain pathology, Chromosomes, Human, Pair 16 genetics, DNA Copy Number Variations genetics, Obesity genetics, Schizophrenia genetics
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
2015
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2. The 16p11.2 locus modulates brain structures common to autism, schizophrenia and obesity

Author

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., 16p11.2 European Consortium, and Other departments

Subjects
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
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.Molecular Psychiatry advance online publication, 25 November 2014; doi:10.1038/mp.2014.145.

Published
2015

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