Evidence map›Paper›PMID 35680911›Full record

ArticleNature communications2022

Association between resting-state functional brain connectivity and gene expression is altered in autism spectrum disorder.

Stefano Berto, Alex H Treacher, Emre Caglayan, Danni Luo, Jillian R Haney, Michael J Gandal, Daniel H Geschwind, Albert A Montillo, Genevieve Konopka

Open access · goldAbstract read
In one paragraph

Article in Nature communications, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
20citing papers in PubMed, 2 pooled it
4.6field-weighted citation impact, top 4% 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

20 citing papers in PubMed, 2 syntheses or guidelines pooled it, 42 citations in OpenAlex.

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  14. Exploring key genes and pathways associated with sex differences in autism spectrum disorder: integrated bioinformatic analysis.Mammalian genome : official journal of the International Mammalian Genome Society · 2024
    Article
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  19. Review
  20. Single-Cell Transcriptomics Supports a Role ofInternational journal of molecular sciences · 2021
    Review
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

9 authors at 3 institutions in 1 country.

Stefano Berto *Department of Neuroscience, UT Southwestern Medical Center, Dallas, TX, 75390, USA.ORCID 0000-0001-9028-9458
Alex H Treacher *Lyda Hill Department of Bioinformatics, UT Southwestern Medical Center, Dallas, TX, 75390, USA.ORCID 0000-0003-1314-7629
Emre Caglayan *Department of Neuroscience, UT Southwestern Medical Center, Dallas, TX, 75390, USA.ORCID 0000-0001-5340-8614
Danni LuoLyda Hill Department of Bioinformatics, UT Southwestern Medical Center, Dallas, TX, 75390, USA.
Jillian R HaneyProgram in Neurobehavioral Genetics, Department of Psychiatry, Semel Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, 90095, USA.
Michael J GandalProgram in Neurobehavioral Genetics, Department of Psychiatry, Semel Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, 90095, USA.ORCID 0000-0001-5800-5128
Daniel H GeschwindProgram in Neurobehavioral Genetics, Department of Psychiatry, Semel Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, 90095, USA.ORCID 0000-0003-2896-3450
Albert A MontilloLyda Hill Department of Bioinformatics, UT Southwestern Medical Center, Dallas, TX, 75390, USA. Albert.Montillo@utsouthwestern.edu.ORCID 0000-0002-4353-290X
Genevieve KonopkaDepartment of Neuroscience, UT Southwestern Medical Center, Dallas, TX, 75390, USA. Genevieve.Konopka@utsouthwestern.edu.ORCID 0000-0002-3363-7302
Southwestern Medical CenterUniversity of California, Los Angeles · USSouthwestern Medical Center · US

Funding

UC Davis Conte Center: Neuroimmune Mechanisms of Psychiatric DisordersP50MH106438 · NIMH · UNIVERSITY OF CALIFORNIA AT DAVIS · PI CARTER, CAMERON S. · 2015 to 2025
$26.1M
UCLA IDDRC: Translational CoreP50HD103557 · NICHD · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI SUSAN Y BOOKHEIMER · 2020 to 2026
$9.6M
1/2 Cross modal integration of molecular and physiological networks in ASDU01MH115746 · NIMH · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI GESCHWIND, DANIEL H, MEHTA, MAYANK R · 2017 to 2021
$5.3M
From ion channels to graph theory in sensorimotor learningUF1NS115821 · NINDS · UNIVERSITY OF CHICAGO · PI KONOPKA, GENEVIEVE, MACLEAN, JASON NEIL · 2020 to 2020
$3.9M
Isoform-level probabilistic transcriptome-wide association to undercover neurogenetic mechanisms underlying complex psychiatric traitsR01MH121521 · NIMH · UNIVERSITY OF PENNSYLVANIA · PI GANDAL, MICHAEL · 2020 to 2024
$3.4M
Foxp-regulated signaling pathways in brain development - DiversityR01MH126481 · NIMH · UT SOUTHWESTERN MEDICAL CENTER · PI KONOPKA, GENEVIEVE · 2021 to 2025
$3.4M
Population-level and mechanistic dissection of 17q21 structural variant association with psychiatric traitsR01MH123922 · NIMH · UNIVERSITY OF PENNSYLVANIA · PI GANDAL, MICHAEL · 2020 to 2024
$3.1M
Epigenetic and Transcriptional Dysregulation in Autism Spectrum DisorderR01MH094714 · NIMH · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI GESCHWIND, DANIEL H · 2011 to 2015
$2.8M
2/3 Integrative Genomic Analysis of Human Brain Development and AutismR01MH110927 · NIMH · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI GESCHWIND, DANIEL H · 2016 to 2019
$2.7M
1/3 Building integrative CNS networks for genomic analysis of autismR01MH109912 · NIMH · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI GESCHWIND, DANIEL H · 2016 to 2020
$2.6M
Comparative Epigenomics of Primate BrainsR01HG011641 · NHGRI · UNIVERSITY OF CALIFORNIA SANTA BARBARA · PI KONOPKA, GENEVIEVE, SHERWOOD, CHESTER · 2021 to 2024
$2.4M
The role of Foxp1-regulated signaling pathways in brain development and behaviorR01MH102603 · NIMH · UT SOUTHWESTERN MEDICAL CENTER · PI KONOPKA, GENEVIEVE · 2015 to 2019
$2.2M
NHGRI NIH HHS R01 HG011641NICHD NIH HHS P50 HD103557NIMH NIH HHS P50 MH106438NIMH NIH HHS R01 MH094714NIMH NIH HHS R01 MH102603NIMH NIH HHS R01 MH109912NIMH NIH HHS R01 MH110927NIMH NIH HHS R01 MH121521NIMH NIH HHS R01 MH123922NIMH NIH HHS R01 MH126481NIMH NIH HHS U01 MH115746NINDS NIH HHS R21 NS106447NINDS NIH HHS UF1 NS115821
6 · The paper itself

Abstract

Gene expression covaries with brain activity as measured by resting state functional magnetic resonance imaging (MRI). However, it is unclear how genomic differences driven by disease state can affect this relationship. Here, we integrate from the ABIDE I and II imaging cohorts with datasets of gene expression in brains of neurotypical individuals and individuals with autism spectrum disorder (ASD) with regionally matched brain activity measurements from fMRI datasets. We identify genes linked with brain activity whose association is disrupted in ASD. We identified a subset of genes that showed a differential developmental trajectory in individuals with ASD compared with controls. These genes are enriched in voltage-gated ion channels and inhibitory neurons, pointing to excitation-inhibition imbalance in ASD. We further assessed differences at the regional level showing that the primary visual cortex is the most affected region in ASD. Our results link disrupted brain expression patterns of individuals with ASD to brain activity and show developmental, cell type, and regional enrichment of activity linked genes.

Indexed as

Autism Spectrum DisorderBrainBrain MappingGene ExpressionHumansMagnetic Resonance ImagingNeural Pathways

Identifiers

PMID35680911
PMCPMC9184501
OpenAlexW4281790503

What OpenQuestion holds

Textmetadata
LicenceCC BY
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 OpenQuestion graph.