Evidence map›Paper›PMID 40501680›Full record

ArticlebioRxiv : the preprint server for biology2025

Gene dosage effects of 22q11.2 copy number variants on in-vivo measures of white matter axonal density and dispersion.

Rune Boen, Julio E Villalón-Reina, Leila Kushan, Kathleen P O'Hora, Hoki Fung, Nadine Parker, Ibrahim A Akkouh, Dag Alnæs, Ruth O'Hara, Matthew John Marzelli and 9 more

Abstract readPreprint
PubMed Full text at PMC Publisher
In one paragraph

Article in bioRxiv : the preprint server for biology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

19 authors.

Rune BoenSemel Institute for Neuroscience and Human Behavior, University of California Los Angeles, Los Angeles, CA, USA.
Julio E Villalón-ReinaImaging Genetics Center, Mark and Mary Stevens Neuroimaging and Informatics Institute, University of Southern California, Los Angeles, CA, USA.
Leila KushanSemel Institute for Neuroscience and Human Behavior, University of California Los Angeles, Los Angeles, CA, USA.
Kathleen P O'HoraSemel Institute for Neuroscience and Human Behavior, University of California Los Angeles, Los Angeles, CA, USA.
Hoki FungSemel Institute for Neuroscience and Human Behavior, University of California Los Angeles, Los Angeles, CA, USA.
Nadine ParkerCentre for Precision Psychiatry, Division of Mental Health and Addiction, Oslo University Hospital & University of Oslo, Oslo, Norway.
Ibrahim A AkkouhDepartment of Medical Genetics, Oslo University Hospital, Oslo, Norway.
Dag AlnæsCentre for Precision Psychiatry, Division of Mental Health and Addiction, Oslo University Hospital & University of Oslo, Oslo, Norway.
Ruth O'HaraStanford University School of Medicine, Stanford, CA, USA.
Matthew John MarzelliStanford University School of Medicine, Stanford, CA, USA.
Lara Foland-RossStanford University School of Medicine, Stanford, CA, USA.
Christina French ChickStanford University School of Medicine, Stanford, CA, USA.
Isabelle CottoStanford University School of Medicine, Stanford, CA, USA.
Allan L ReissStanford University School of Medicine, Stanford, CA, USA.
Joachim HallmayerStanford University School of Medicine, Stanford, CA, USA.
Paul M ThompsonImaging Genetics Center, Mark and Mary Stevens Neuroimaging and Informatics Institute, University of Southern California, Los Angeles, CA, USA.
Ole A AndreassenCentre for Precision Psychiatry, Division of Mental Health and Addiction, Oslo University Hospital & University of Oslo, Oslo, Norway.
Ida E SønderbyCentre for Precision Psychiatry, Division of Mental Health and Addiction, Oslo University Hospital & University of Oslo, Oslo, Norway.
Carrie E BeardenSemel Institute for Neuroscience and Human Behavior, University of California Los Angeles, Los Angeles, CA, USA.

Funding

MAPPING THE HUMAN CONNECTOME DURING TYPICAL AGINGU01AG052564 · NIA · WASHINGTON UNIVERSITY · PI SALAT, DAVID H, TERPSTRA, MELISSA J · 2016 to 2020
$18.9M
Mapping the Human Connectome During Typical DevelopmentU01MH109589 · NIMH · WASHINGTON UNIVERSITY · PI BARCH, DEANNA, BOOKHEIMER, SUSAN Y · 2016 to 2019
$17.1M
Integrative Molecular and Phenotype Analysis of 22q11.2 Deletion SyndromeR01MH100900 · NIMH · STANFORD UNIVERSITY · PI HALLMAYER, JOACHIM F · 2013 to 2017
$4.8M
Neurodevelopment and Psychosis in the 22q11.2 Copy Number VariantsR37MH085953 · NIMH · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI CARRIE E BEARDEN · 2023 to 2026
$2.9M
Understanding Rare Genetic Variation and Disease Risk: A Global Neurogenetics InitiativeR01MH129858 · NIMH · SAINTE-JUSTINE UNIVERSITY HOSPITAL CTR · PI CARRIE E BEARDEN, Sebastien Jacquemont · 2023 to 2026
$2.4M
3/9 Dissecting the effects of genomic variants on neurobehavioral dimensions in CNVs enriched for neuropsychiatric disordersU01MH119736 · NIMH · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI BEARDEN, CARRIE E · 2019 to 2024
$1.2M
Neurobiological basis of dysconnectivity in a genetic risk model of psychosisR21MH116473 · NIMH · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI BEARDEN, CARRIE E, GOZZI, ALESSANDRO · 2018 to 2019
$366k
NIA NIH HHS U01 AG052564NIMH NIH HHS R01 MH100900NIMH NIH HHS R01 MH129858NIMH NIH HHS R21 MH116473NIMH NIH HHS R37 MH085953NIMH NIH HHS U01 MH109589NIMH NIH HHS U01 MH119736
6 · The paper itself

Abstract

22q11.2 deletion (22qDel) and duplication (22qDup) carriers have an increased risk of neurodevelopmental disorders and exhibit altered brain structure, including white matter microstructure. However, the underlying cellular architecture and age-related changes contributing to these white matter alterations remain poorly understood. Neurite orientation dispersion and density imaging (NODDI) was used on mixed cross-sectional and longitudinal data to examine group differences and age-related trajectories in measures of axonal density (i.e., intracellular volume fraction; ICVF), axonal orientation (orientation dispersion index; ODI) and free water diffusion (isotropic volume fraction; ISO) in 50 22qDel (n scans = 69, mean age = 21.7, age range = 7.4-51.1, 65.2% female) and 24 22qDup (n scans = 34, mean age = 23.3, age range = 8.3-49.4, 55.0% female) carriers, and 890 controls (n scans = 901, mean age = 21.9, age range = 7.8-51.1, 54.5%). The results showed widespread gene dosage effects, with higher ICVF in 22qDel and lower ICVF in 22qDup compared to controls, and region-specific effects of the 22qDel and 22qDup on ODI and ISO measures. However, 22qDel and 22qDup carriers did not exhibit an altered age-related trajectory relative to controls. Observed differences in ICVF suggest higher white matter axonal density in 22qDel and lower axonal density in 22qDup compared to controls. Conversely, differences in ODI are highly localized, indicating region-specific effects on axonal dispersion in white matter. We do not find evidence for altered developmental trajectories of axonal density or dispersion among 22q11.2 CNV carriers, suggesting stable disruptions to neurodevelopmental events before childhood.

Indexed as

22q11.2 copy number variantaxonal densityaxonal dispersionNODDIwhite matter

Identifiers

PMID40501680
PMCPMC12154836

What Socratic holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.