Evidence map›Paper›PMID 33638978›Full record

ArticleCerebral cortex (New York, N.Y. : 1991)2021

Prioritizing Genetic Contributors to Cortical Alterations in 22q11.2 Deletion Syndrome Using Imaging Transcriptomics.

Jennifer K Forsyth, Eva Mennigen, Amy Lin, Daqiang Sun, Ariana Vajdi, Leila Kushan-Wells, Christopher R K Ching, Julio E Villalon-Reina, Paul M Thompson, 22q11.2 ENIGMA Consortium and 1 more

Open access · hybridAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Cerebral cortex (New York, N.Y. : 1991), 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
0.8field-weighted citation impact, top 30% of its field
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

6 citing papers in PubMed, 13 citations in OpenAlex.

  1. Charting Brain Structure in 22q11.2 Deletion Syndrome with Clinical Neuroimaging.medRxiv : the preprint server for health sciences · 2026
    Article
  2. Article
  3. Effects of gene dosage and development on subcortical nuclei volumes in individuals with 22q11.2 copy number variations.Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2024
    Article
  4. Article
  5. Article
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

11 authors at 4 institutions in 2 countries.

Jennifer K ForsythDepartment of Psychiatry and Biobehavioral Sciences, University of California at Los Angeles, Los Angeles, CA 90095, USA.
Eva MennigenDepartment of Psychiatry and Biobehavioral Sciences, University of California at Los Angeles, Los Angeles, CA 90095, USA.
Amy LinDepartment of Psychiatry and Biobehavioral Sciences, University of California at Los Angeles, Los Angeles, CA 90095, USA.
Daqiang SunDepartment of Psychiatry and Biobehavioral Sciences, University of California at Los Angeles, Los Angeles, CA 90095, USA.
Ariana VajdiDepartment of Psychiatry and Biobehavioral Sciences, University of California at Los Angeles, Los Angeles, CA 90095, USA.
Leila Kushan-WellsDepartment of Psychiatry and Biobehavioral Sciences, University of California at Los Angeles, Los Angeles, CA 90095, USA.
Christopher R K ChingImaging Genetics Center, Mark and Mary Stevens Neuroimaging and Informatics Institute, Keck School of Medicine, University of Southern California, Los Angeles, CA 90033, USA.
Julio E Villalon-ReinaImaging Genetics Center, Mark and Mary Stevens Neuroimaging and Informatics Institute, Keck School of Medicine, University of Southern California, Los Angeles, CA 90033, USA.
Paul M ThompsonImaging Genetics Center, Mark and Mary Stevens Neuroimaging and Informatics Institute, Keck School of Medicine, University of Southern California, Los Angeles, CA 90033, USA.
22q11.2 ENIGMA Consortium
Carrie E BeardenDepartment of Psychiatry and Biobehavioral Sciences, University of California at Los Angeles, Los Angeles, CA 90095, USA.
University of California, Los Angeles · USUniversity of Southern California · USUniversity Hospital Carl Gustav Carus · DEVA Greater Los Angeles Healthcare System · US

Funding

UCLA Clinical Translational Science InstituteUL1TR001881 · NCATS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI ARLEEN F. BROWN, ARASH NAEIM · 2016 to 2026
$118.1M
TR&D3: Intrinsic Surface MappingP41EB015922 · NIBIB · UNIVERSITY OF SOUTHERN CALIFORNIA · PI VAN HORN, JOHN DARRELL · 2012 to 2022
$14.1M
Project 2: Genetic Mechanisms of Non-syndromic Congenital Cardiac DefectsP01HD070454 · NICHD · ALBERT EINSTEIN COLLEGE OF MEDICINE, INC · PI MORROW, BERNICE E · 2011 to 2020
$14.0M
Training U54EB020403 · NIBIB · UNIVERSITY OF SOUTHERN CALIFORNIA · PI THOMPSON, PAUL M · 2014 to 2018
$10.1M
Biomarkers for Psychosis in Velocardiofacial SyndromeR01MH064824 · NIMH · UPSTATE MEDICAL UNIVERSITY · PI KATES, WENDY · 2002 to 2015
$7.3M
1/2-Brain-Behavior and Genetic Studies of the 22q11DSU01MH087626 · NIMH · UNIVERSITY OF PENNSYLVANIA · PI GUR, RAQUEL E · 2010 to 2014
$6.5M
Neurodevelopment and Psychosis in the 22q11.2 Deletion SyndromeR01MH085953 · NIMH · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI BEARDEN, CARRIE E · 2010 to 2020
$6.2M
Integrative Molecular and Phenotype Analysis of 22q11.2 Deletion SyndromeR01MH100900 · NIMH · STANFORD UNIVERSITY · PI HALLMAYER, JOACHIM F · 2013 to 2017
$4.8M
2/2 Brain, Behavior and Genetic Studies of the 22q11 Deletion StudiesU01MH087636 · NIMH · CHILDREN'S HOSP OF PHILADELPHIA · PI EMANUEL, BEVERLY S · 2010 to 2014
$4.6M
Trauma and Genomics Modulate Brain Structure across Common Psychiatric DisordersR01MH111671 · NIMH · DUKE UNIVERSITY · PI MARK W LOGUE, RAJENDRA A MOREY · 2017 to 2026
$4.4M
Olfactory and facial markers of developmental risk for psychosis in 22q11 deletion syndromeR01MH119185 · NIMH · UNIVERSITY OF PENNSYLVANIA · PI ROALF, DAVID R · 2019 to 2024
$3.5M
Cognitive-Affective Psychosis Proneness Risk and protective factors in 22q11.2DSR01MH107108 · NIMH · UNIVERSITY OF CALIFORNIA AT DAVIS · PI ANGKUSTSIRI, KATHLEEN · 2015 to 2020
$3.4M
Medical Research Council MR/L010305/1NCATS NIH HHS UL1 TR001881NIA NIH HHS R56 AG058854NIA NIH HHS T32 AG058507NIBIB NIH HHS P41 EB015922NIBIB NIH HHS U54 EB020403NICHD NIH HHS P01 HD070454NICHD NIH HHS R01 HD027694NIGMS NIH HHS R01 GM125757NIMH NIH HHS K08 MH118577NIMH NIH HHS R01 MH057636NIMH NIH HHS R01 MH064824NIMH NIH HHS R01 MH085953NIMH NIH HHS R01 MH100900NIMH NIH HHS R01 MH107108NIMH NIH HHS R01 MH111671NIMH NIH HHS R01 MH116147NIMH NIH HHS R01 MH119185NIMH NIH HHS R37 MH085953NIMH NIH HHS T32 MH073526NIMH NIH HHS U01 MH087626NIMH NIH HHS U01 MH087636NIMH NIH HHS U01 MH101719NIMH NIH HHS U01 MH101723NIMH NIH HHS U01 MH101724NIMH NIH HHS U01 MH119738Wellcome TrustWellcome Trust 100202/Z/12/Z
6 · The paper itself

Abstract

22q11.2 deletion syndrome (22q11DS) results from a hemizygous deletion that typically spans 46 protein-coding genes and is associated with widespread alterations in brain morphology. The specific genetic mechanisms underlying these alterations remain unclear. In the 22q11.2 ENIGMA Working Group, we characterized cortical alterations in individuals with 22q11DS (n = 232) versus healthy individuals (n = 290) and conducted spatial convergence analyses using gene expression data from the Allen Human Brain Atlas to prioritize individual genes that may contribute to altered surface area (SA) and cortical thickness (CT) in 22q11DS. Total SA was reduced in 22q11DS (Z-score deviance = -1.04), with prominent reductions in midline posterior and lateral association regions. Mean CT was thicker in 22q11DS (Z-score deviance = +0.64), with focal thinning in a subset of regions. Regional expression of DGCR8 was robustly associated with regional severity of SA deviance in 22q11DS; AIFM3 was also associated with SA deviance. Conversely, P2RX6 was associated with CT deviance. Exploratory analysis of gene targets of microRNAs previously identified as down-regulated due to DGCR8 deficiency suggested that DGCR8 haploinsufficiency may contribute to altered corticogenesis in 22q11DS by disrupting cell cycle modulation. These findings demonstrate the utility of combining neuroanatomic and transcriptomic datasets to derive molecular insights into complex, multigene copy number variants.

Indexed as

Brain Cortical Thickness22q11 Deletion SyndromeCase-Control StudiesCerebral CortexDNA Copy Number VariationsGene Expression ProfilingGene Expression Regulation, DevelopmentalHaploinsufficiencyHumansMagnetic Resonance ImagingMicroRNAsMitochondrial ProteinsReceptors, Purinergic P2RNA-Binding ProteinsAIFM3 protein, humanDGCR8 protein, humanMicroRNAsMitochondrial Proteinspurinoceptor P2X6Receptors, Purinergic P2RNA-Binding Proteinscopy number variantcortical thicknessDGCR8gene expressionsurface area

Identifiers

PMID33638978
PMCPMC8196250
OpenAlexW3135713085

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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 OpenQuestion graph.