Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia.
Adult
Autism Spectrum Disorder
/ genetics
Autistic Disorder
/ genetics
Basal Ganglia
/ pathology
Brain
/ pathology
Chromosome Deletion
Chromosome Disorders
/ genetics
Chromosome Duplication
Chromosomes, Human, Pair 16
/ genetics
DNA Copy Number Variations
/ genetics
Databases, Factual
Female
Globus Pallidus
/ pathology
Humans
Image Processing, Computer-Assisted
/ methods
Intellectual Disability
/ genetics
Magnetic Resonance Imaging
/ methods
Male
Middle Aged
Neurodevelopmental Disorders
/ genetics
Organ Size
/ genetics
Putamen
/ pathology
Schizophrenia
/ genetics
Journal
Molecular psychiatry
ISSN: 1476-5578
Titre abrégé: Mol Psychiatry
Pays: England
ID NLM: 9607835
Informations de publication
Date de publication:
03 2020
03 2020
Historique:
received:
12
02
2018
accepted:
25
05
2018
revised:
02
05
2018
pubmed:
5
10
2018
medline:
15
1
2021
entrez:
5
10
2018
Statut:
ppublish
Résumé
Carriers of large recurrent copy number variants (CNVs) have a higher risk of developing neurodevelopmental disorders. The 16p11.2 distal CNV predisposes carriers to e.g., autism spectrum disorder and schizophrenia. We compared subcortical brain volumes of 12 16p11.2 distal deletion and 12 duplication carriers to 6882 non-carriers from the large-scale brain Magnetic Resonance Imaging collaboration, ENIGMA-CNV. After stringent CNV calling procedures, and standardized FreeSurfer image analysis, we found negative dose-response associations with copy number on intracranial volume and on regional caudate, pallidum and putamen volumes (β = -0.71 to -1.37; P < 0.0005). In an independent sample, consistent results were obtained, with significant effects in the pallidum (β = -0.95, P = 0.0042). The two data sets combined showed significant negative dose-response for the accumbens, caudate, pallidum, putamen and ICV (P = 0.0032, 8.9 × 10
Identifiants
pubmed: 30283035
doi: 10.1038/s41380-018-0118-1
pii: 10.1038/s41380-018-0118-1
pmc: PMC7042770
doi:
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
584-602Subventions
Organisme : NIMH NIH HHS
ID : R01 MH081802
Pays : United States
Organisme : NIMH NIH HHS
ID : RC2 MH089995
Pays : United States
Organisme : NIBIB NIH HHS
ID : R01 EB005846
Pays : United States
Organisme : NIBIB NIH HHS
ID : R01 EB006841
Pays : United States
Organisme : NIMH NIH HHS
ID : R01 MH078111
Pays : United States
Organisme : NIBIB NIH HHS
ID : U54 EB020403
Pays : United States
Organisme : NIBIB NIH HHS
ID : R01 EB000840
Pays : United States
Organisme : NIMH NIH HHS
ID : R01 MH083824
Pays : United States
Organisme : NIMH NIH HHS
ID : RC1 MH089257
Pays : United States
Organisme : NIMH NIH HHS
ID : RC2 MH089951
Pays : United States
Organisme : NIMH NIH HHS
ID : K08 MH068540
Pays : United States
Organisme : NIGMS NIH HHS
ID : P20 GM103472
Pays : United States
Organisme : NIMH NIH HHS
ID : R01 MH085772
Pays : United States
Organisme : NCRR NIH HHS
ID : P41 RR014075
Pays : United States
Organisme : NICHD NIH HHS
ID : R01 HD050735
Pays : United States
Organisme : NCRR NIH HHS
ID : M01 RR001066
Pays : United States
Organisme : NCRR NIH HHS
ID : P20 RR021938
Pays : United States
Organisme : NCRR NIH HHS
ID : U24 RR021992
Pays : United States
Commentaires et corrections
Type : ErratumIn
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