Journal Article

FZJ-2018-03605

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Dose response of the 16p11.2 digital copy number on intracranial volume and basal ganglia

Sonderby, I. E. ; Gustafsson, O. ; Doan, N. T. ; Hibar, D. P. ; Martin-Brevet, S. ; Westley, L. T. ; Jacquemont, S. ; Djurovic, S. ; Stefansson, H. ; Stefansson, K. ; Thompson, P. M. ; Andreassen, O. A. (Corresponding author) ; Cichon, S.FZJ*

2020
Macmillan London

This record in other databases:      

Please use a persistent id in citations: http://hdl.handle.net/2128/23759  doi:10.1038/s41380-018-0118-1

Abstract: 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 × 10−6, 1.7 × 10−9, 3.5 × 10−12 and 1.0 × 10−4, respectively). Full scale IQ was lower in both deletion and duplication carriers compared to non-carriers. This is the first brain MRI study of the impact of the 16p11.2 distal CNV, and we demonstrate a specific effect on subcortical brain structures, suggesting a neuropathological pattern underlying the neurodevelopmental syndromes.

---

Contributing Institute(s):

1. Strukturelle und funktionelle Organisation des Gehirns (INM-1)

Research Program(s):

1. 571 - Connectivity and Activity (POF3-571) (POF3-571)

Appears in the scientific report 2019

---

Database coverage:
; ; BIOSIS Previews ; Current Contents - Life Sciences ; Ebsco Academic Search ; IF >= 10 ; JCR ; NCBI Molecular Biology Database ; SCOPUS ; Science Citation Index ; Science Citation Index Expanded ; Thomson Reuters Master Journal List ; Web of Science Core Collection

---