Faculty, Staff and Student Publications

Authors

Rune Boen
Tobias Kaufmann
Dennis van der Meer
Oleksandr Frei
Ingrid Agartz
David Ames
Micael Andersson
Nicola J Armstrong
Eric Artiges
Joshua R Atkins
Jochen Bauer
Francesco Benedetti
Dorret I Boomsma
Henry Brodaty
Katharina Brosch
Randy L Buckner
Murray J Cairns
Vince Calhoun
Svenja Caspers
Sven Cichon
Aiden P Corvin
Benedicto Crespo-Facorro
Udo Dannlowski
Friederike S David
Eco J C de Geus
Greig I de Zubicaray
Sylvane Desrivières
Joanne L Doherty
Gary Donohoe
Stefan Ehrlich
Else Eising
Thomas Espeseth
Simon E Fisher
Andreas J Forstner
Lidia Fortaner-Uyà
Vincent Frouin
Masaki Fukunaga
Tian Ge
David C Glahn
Janik Goltermann
Hans J Grabe
Melissa J Green
Nynke A Groenewold
Dominik Grotegerd
Gøril Rolfseng Grøntvedt
Tim Hahn
Ryota Hashimoto
Jayne Y Hehir-Kwa
Frans A Henskens
Avram J Holmes
Asta K Håberg
Jan Haavik
Sebastien Jacquemont
Andreas Jansen
Christiane Jockwitz
Erik G Jönsson
Masataka Kikuchi
Tilo Kircher
Kuldeep Kumar
Stephanie Le Hellard
Costin Leu
David E Linden
Jingyu Liu
Robert Loughnan
Karen A Mather
Katie L McMahon
Allan F McRae
Sarah E Medland
Susanne Meinert
Clara A Moreau
Derek W Morris
Bryan J Mowry
Thomas W Mühleisen
Igor Nenadić
Markus M Nöthen
Lars Nyberg
Roel A Ophoff
Michael J Owen
Christos Pantelis
Marco Paolini
Tomas Paus
Zdenka Pausova
Karin Persson
Yann Quidé
Tiago Reis Marques
Perminder S Sachdev
Sigrid B Sando
Ulrich Schall
Rodney J Scott
Geir Selbæk
Elena Shumskaya
Ana I Silva
Sanjay M Sisodiya
Frederike Stein
Dan J Stein
Benjamin Straube
Fabian Streit
Lachlan T Strike
Alexander Teumer
Lea Teutenberg
Anbupalam Thalamuthu
Paul A Tooney
Diana Tordesillas-Gutierrez
Julian N Trollor
Dennis van 't Ent
Marianne B M van den Bree
Neeltje E M van Haren
Javier Vázquez-Bourgon
Henry Völzke
Wei Wen
Katharina Wittfeld
Christopher R K Ching
Lars T Westlye
Paul M Thompson
Carrie E Bearden
Kaja K Selmer
Dag Alnæs
Ole A Andreassen
Ida E Sønderby
ENIGMA-CNV Working Group

Publication Date

1-15-2024

Journal

Biological Psychiatry

Abstract

Background: Carriers of the 1q21.1 distal and 15q11.2 BP1-BP2 copy number variants exhibit regional and global brain differences compared with noncarriers. However, interpreting regional differences is challenging if a global difference drives the regional brain differences. Intraindividual variability measures can be used to test for regional differences beyond global differences in brain structure.

Methods: Magnetic resonance imaging data were used to obtain regional brain values for 1q21.1 distal deletion (n = 30) and duplication (n = 27) and 15q11.2 BP1-BP2 deletion (n = 170) and duplication (n = 243) carriers and matched noncarriers (n = 2350). Regional intra-deviation scores, i.e., the standardized difference between an individual's regional difference and global difference, were used to test for regional differences that diverge from the global difference.

Results: For the 1q21.1 distal deletion carriers, cortical surface area for regions in the medial visual cortex, posterior cingulate, and temporal pole differed less and regions in the prefrontal and superior temporal cortex differed more than the global difference in cortical surface area. For the 15q11.2 BP1-BP2 deletion carriers, cortical thickness in regions in the medial visual cortex, auditory cortex, and temporal pole differed less and the prefrontal and somatosensory cortex differed more than the global difference in cortical thickness.

Conclusions: We find evidence for regional effects beyond differences in global brain measures in 1q21.1 distal and 15q11.2 BP1-BP2 copy number variants. The results provide new insight into brain profiling of the 1q21.1 distal and 15q11.2 BP1-BP2 copy number variants, with the potential to increase understanding of the mechanisms involved in altered neurodevelopment.

Keywords

Abnormalities, Multiple, Brain, Chromosomes, Human, Pair 1, Humans, Chromosome Deletion, Chromosomes, Human, Pair 15, Magnetic Resonance Imaging, Megalencephaly, DNA Copy Number Variations, copy number variants, 1q21.1 distal, 15q11.2 BP1-BP2, intra-individual variability, magnetic resonance imaging, brain structure

DOI

10.1016/j.biopsych.2023.08.018

PMID

37661008

PMCID

PMC7615370

PubMedCentral® Posted Date

1-1-2024

PubMedCentral® Full Text Version

Post-print

Published Open-Access

yes

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