Beyond the Global Brain Differences: Intraindividual Variability Differences in 1q21.1 Distal and 15q11.2 BP1-BP2 Deletion Carriers.
15q11.2 BP1-BP2
1q21.1 distal
Brain structure
Copy number variants
Intraindividual variability
Magnetic resonance imaging
Journal
Biological psychiatry
ISSN: 1873-2402
Titre abrégé: Biol Psychiatry
Pays: United States
ID NLM: 0213264
Informations de publication
Date de publication:
15 Jan 2024
15 Jan 2024
Historique:
received:
11
04
2023
revised:
25
07
2023
accepted:
21
08
2023
medline:
17
12
2023
pubmed:
4
9
2023
entrez:
3
9
2023
Statut:
ppublish
Résumé
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. 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. 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. 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.
Sections du résumé
BACKGROUND
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
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
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
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.
Identifiants
pubmed: 37661008
pii: S0006-3223(23)01530-5
doi: 10.1016/j.biopsych.2023.08.018
pmc: PMC7615370
mid: EMS190337
pii:
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
147-160Subventions
Organisme : NIMH NIH HHS
ID : U01 MH119738
Pays : United States
Organisme : NIMH NIH HHS
ID : RC2 MH089995
Pays : United States
Organisme : Medical Research Council
ID : MR/L010305/1
Pays : United Kingdom
Organisme : NIDA NIH HHS
ID : R37 DA018673
Pays : United States
Organisme : NIBIB NIH HHS
ID : U54 EB020403
Pays : United States
Organisme : NICHD NIH HHS
ID : R01 HD050735
Pays : United States
Organisme : Medical Research Council
ID : MR/T033045/1
Pays : United Kingdom
Organisme : NCRR NIH HHS
ID : U24 RR021992
Pays : United States
Organisme : Medical Research Council
ID : MR/S020306/1
Pays : United Kingdom
Organisme : NIMH NIH HHS
ID : R37 MH085953
Pays : United States
Organisme : MRF
ID : MRF_MRF-058-0009-RG-DESR-C0759
Pays : United Kingdom
Organisme : NIMH NIH HHS
ID : RC1 MH089257
Pays : United States
Organisme : NIMH NIH HHS
ID : RC2 MH089951
Pays : United States
Organisme : NCRR NIH HHS
ID : U24 RR021382
Pays : United States
Organisme : NIMH NIH HHS
ID : R01 MH081802
Pays : United States
Organisme : Department of Health
ID : PR-ST-0416-10004
Pays : United Kingdom
Organisme : NIMH NIH HHS
ID : U01 MH119736
Pays : United States
Organisme : NICHD NIH HHS
ID : P50 HD105351
Pays : United States
Organisme : MRF
ID : MRF_MRF-058-0004-RG-DESRI
Pays : United Kingdom
Organisme : NIBIB NIH HHS
ID : R01 EB005846
Pays : United States
Organisme : EPA
ID : EP-C-15-001
Pays : United States
Organisme : NIMH NIH HHS
ID : R01 MH129858
Pays : United States
Organisme : NIMH NIH HHS
ID : R21 MH116473
Pays : United States
Organisme : NIMH NIH HHS
ID : R01 MH085953
Pays : United States
Organisme : Medical Research Council
ID : MR/R00465X/1
Pays : United Kingdom
Organisme : NCRR NIH HHS
ID : P41 RR014075
Pays : United States
Organisme : NIMH NIH HHS
ID : R01 MH058799
Pays : United States
Organisme : Medical Research Council
ID : MR/N027558/1
Pays : United Kingdom
Organisme : NIMH NIH HHS
ID : U01 MH119690
Pays : United States
Organisme : NIA NIH HHS
ID : R56 AG058854
Pays : United States
Organisme : NIMH NIH HHS
ID : U24 MH068457
Pays : United States
Organisme : Medical Research Council
ID : MR/P005748/1
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/W002418/1
Pays : United Kingdom
Organisme : NIMH NIH HHS
ID : U01 MH101724
Pays : United States
Organisme : Medical Research Council
ID : MR/N000390/1
Pays : United Kingdom
Organisme : NIDA NIH HHS
ID : R01 DA018673
Pays : United States
Organisme : NIDDK NIH HHS
ID : R01 DK092127
Pays : United States
Organisme : Medical Research Council
ID : MR/N022572/1
Pays : United Kingdom
Organisme : NCRR NIH HHS
ID : UL1 RR025758
Pays : United States
Organisme : Wellcome Trust
Pays : United Kingdom
Organisme : European Research Council
ID : 695313
Pays : International
Organisme : NICHD NIH HHS
ID : R01 HD061414
Pays : United States
Organisme : NIMH NIH HHS
ID : R01 MH090553
Pays : United States
Organisme : NIDA NIH HHS
ID : RC2 DA029475
Pays : United States
Informations de copyright
Copyright © 2023. Published by Elsevier Inc.