Beyond the Global Brain Differences: Intraindividual Variability Differences in 1q21.1 Distal and 15q11.2 BP1-BP2 Deletion Carriers

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; Roel A. Ophoff; Neeltje E.M. van Haren

doi:10.1016/j.biopsych.2023.08.018

Beyond the Global Brain Differences: Intraindividual Variability Differences in 1q21.1 Distal and 15q11.2 BP1-BP2 Deletion Carriers

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 CichonAiden 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, Roel A. Ophoff, Neeltje E.M. van Haren,

^*Corresponding author for this work

Psychiatry

Research output: Contribution to journal › Article › Academic › peer-review

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.

Original language	English
Pages (from-to)	147-160
Number of pages	14
Journal	Biological Psychiatry
Volume	95
Issue number	2
DOIs	https://doi.org/10.1016/j.biopsych.2023.08.018
Publication status	Published - 15 Jan 2024

Keywords

15q11.2 BP1-BP2
1q21.1 distal
Brain structure
Copy number variants
Intraindividual variability
Magnetic resonance imaging

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Boen, R., Kaufmann, T., van der Meer, D., Frei, O., Agartz, I., Ames, D., Andersson, M., Armstrong, N. J., Artiges, E., Atkins, J. R., Bauer, J., Benedetti, F., Boomsma, D. I., Brodaty, H., Brosch, K., Buckner, R. L., Cairns, M. J., Calhoun, V., Caspers, S. (2024). Beyond the Global Brain Differences: Intraindividual Variability Differences in 1q21.1 Distal and 15q11.2 BP1-BP2 Deletion Carriers. Biological Psychiatry, 95(2), 147-160. https://doi.org/10.1016/j.biopsych.2023.08.018

@article{da8d90d862234c4cb088ea4b46953c48,

title = "Beyond the Global Brain Differences: Intraindividual Variability Differences in 1q21.1 Distal and 15q11.2 BP1-BP2 Deletion Carriers",

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 = "15q11.2 BP1-BP2, 1q21.1 distal, Brain structure, Copy number variants, Intraindividual variability, Magnetic resonance imaging",

author = "Rune Boen and Tobias Kaufmann and {van der Meer}, Dennis and Oleksandr Frei and Ingrid Agartz and David Ames and Micael Andersson and Armstrong, {Nicola J.} and Eric Artiges and Atkins, {Joshua R.} and Jochen Bauer and Francesco Benedetti and Boomsma, {Dorret I.} and Henry Brodaty and Katharina Brosch and Buckner, {Randy L.} and Cairns, {Murray J.} and Vince Calhoun and Svenja Caspers and Sven Cichon and Corvin, {Aiden P.} and Benedicto Crespo-Facorro and Udo Dannlowski and David, {Friederike S.} and {de Geus}, {Eco J.C.} and {de Zubicaray}, {Greig I.} and Sylvane Desrivi{\`e}res and Doherty, {Joanne L.} and Gary Donohoe and Stefan Ehrlich and Else Eising and Thomas Espeseth and Fisher, {Simon E.} and Forstner, {Andreas J.} and Lidia Fortaner-Uy{\`a} and Vincent Frouin and Masaki Fukunaga and Tian Ge and Glahn, {David C.} and Janik Goltermann and Grabe, {Hans J.} and Green, {Melissa J.} and Groenewold, {Nynke A.} and Dominik Grotegerd and Gr{\o}ntvedt, {G{\o}ril Rolfseng} and Tim Hahn and Ryota Hashimoto and Hehir-Kwa, {Jayne Y.} and Ophoff, {Roel A.} and {van Haren}, {Neeltje E.M.}",

note = "Publisher Copyright: {\textcopyright} 2023",

year = "2024",

month = jan,

day = "15",

doi = "10.1016/j.biopsych.2023.08.018",

language = "English",

volume = "95",

pages = "147--160",

journal = "Biological Psychiatry",

issn = "0006-3223",

publisher = "Elsevier USA",

number = "2",

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Boen, R, Kaufmann, T, van der Meer, D, Frei, O, Agartz, I, Ames, D, Andersson, M, Armstrong, NJ, Artiges, E, Atkins, JR, Bauer, J, Benedetti, F, Boomsma, DI, Brodaty, H, Brosch, K, Buckner, RL, Cairns, MJ, Calhoun, V, Caspers, S, Cichon, S, Corvin, AP, Crespo-Facorro, B, Dannlowski, U, David, FS, de Geus, EJC, de Zubicaray, GI, Desrivières, S, Doherty, JL, Donohoe, G, Ehrlich, S, Eising, E, Espeseth, T, Fisher, SE, Forstner, AJ, Fortaner-Uyà, L, Frouin, V, Fukunaga, M, Ge, T, Glahn, DC, Goltermann, J, Grabe, HJ, Green, MJ, Groenewold, NA, Grotegerd, D, Grøntvedt, GR, Hahn, T, Hashimoto, R, Hehir-Kwa, JY, Ophoff, RA, van Haren, NEM 2024, 'Beyond the Global Brain Differences: Intraindividual Variability Differences in 1q21.1 Distal and 15q11.2 BP1-BP2 Deletion Carriers', Biological Psychiatry, vol. 95, no. 2, pp. 147-160. https://doi.org/10.1016/j.biopsych.2023.08.018

TY - JOUR

T1 - Beyond the Global Brain Differences

T2 - Intraindividual Variability Differences in 1q21.1 Distal and 15q11.2 BP1-BP2 Deletion Carriers

AU - Boen, Rune

AU - Kaufmann, Tobias

AU - van der Meer, Dennis

AU - Frei, Oleksandr

AU - Agartz, Ingrid

AU - Ames, David

AU - Andersson, Micael

AU - Armstrong, Nicola J.

AU - Artiges, Eric

AU - Atkins, Joshua R.

AU - Bauer, Jochen

AU - Benedetti, Francesco

AU - Boomsma, Dorret I.

AU - Brodaty, Henry

AU - Brosch, Katharina

AU - Buckner, Randy L.

AU - Cairns, Murray J.

AU - Calhoun, Vince

AU - Caspers, Svenja

AU - Cichon, Sven

AU - Corvin, Aiden P.

AU - Crespo-Facorro, Benedicto

AU - Dannlowski, Udo

AU - David, Friederike S.

AU - de Geus, Eco J.C.

AU - de Zubicaray, Greig I.

AU - Desrivières, Sylvane

AU - Doherty, Joanne L.

AU - Donohoe, Gary

AU - Ehrlich, Stefan

AU - Eising, Else

AU - Espeseth, Thomas

AU - Fisher, Simon E.

AU - Forstner, Andreas J.

AU - Fortaner-Uyà, Lidia

AU - Frouin, Vincent

AU - Fukunaga, Masaki

AU - Ge, Tian

AU - Glahn, David C.

AU - Goltermann, Janik

AU - Grabe, Hans J.

AU - Green, Melissa J.

AU - Groenewold, Nynke A.

AU - Grotegerd, Dominik

AU - Grøntvedt, Gøril Rolfseng

AU - Hahn, Tim

AU - Hashimoto, Ryota

AU - Hehir-Kwa, Jayne Y.

AU - Ophoff, Roel A.

AU - van Haren, Neeltje E.M.

PY - 2024/1/15

Y1 - 2024/1/15

N2 - 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.

AB - 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.

KW - 15q11.2 BP1-BP2

KW - 1q21.1 distal

KW - Brain structure

KW - Copy number variants

KW - Intraindividual variability

KW - Magnetic resonance imaging

UR - http://www.scopus.com/inward/record.url?scp=85178151168&partnerID=8YFLogxK

U2 - 10.1016/j.biopsych.2023.08.018

DO - 10.1016/j.biopsych.2023.08.018

M3 - Article

C2 - 37661008

AN - SCOPUS:85178151168

SN - 0006-3223

VL - 95

SP - 147

EP - 160

JO - Biological Psychiatry

JF - Biological Psychiatry

IS - 2

ER -

Beyond the Global Brain Differences: Intraindividual Variability Differences in 1q21.1 Distal and 15q11.2 BP1-BP2 Deletion Carriers

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