Evidence map›Paper›PMID 29884845›Full record

ArticleTranslational psychiatry2018

Williams Syndrome neuroanatomical score associates with GTF2IRD1 in large-scale magnetic resonance imaging cohorts: a proof of concept for multivariate endophenotypes.

Chun Chieh Fan, Andrew J Schork, Timothy T Brown, Barbara E Spencer, Natacha Akshoomoff, Chi-Hua Chen, Joshua M Kuperman, Donald J Hagler, Vidar M Steen, Stephanie Le Hellard and 7 more

Open access · goldAbstract readMulticenter Study
PubMed Full text at PMC Publisher
In one paragraph

Article in Translational psychiatry, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.6field-weighted citation impact, top 33% 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

4 citing papers in PubMed, 6 citations in OpenAlex.

  1. Article
  2. Article
  3. Review
  4. Genome-wide association studies identify polygenic effects for completed suicide in the Japanese population.Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2019
    Article
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

17 authors at 5 institutions in 3 countries.

Chun Chieh FanDepartment of Cognitive Science, University of California San Diego, 9500 Gilman Drive, La Jolla, CA, 92093, USA.ORCID http://orcid.org/0000-0001-9437-2128
Andrew J SchorkInstitute for Biological Psychiatry, Mental Health Center Sct. Hans, Capital Region of Denmark, Roskilde, Denmark.ORCID http://orcid.org/0000-0003-4164-9335
Timothy T BrownCenter for Multimodal Imaging and Genetics, School of Medicine, University of California San Diego, 9452 Medical Center Drive, La Jolla, CA, 92093, USA.
Barbara E SpencerDepartment of Neurosciences, School of Medicine, University of California San Diego, 9500 Gilman Drive, La Jolla, CA, 92037, USA.
Natacha AkshoomoffCenter for Human Development, University of California San Diego, 9500 Gilman Drive, La Jolla, CA, 92093, USA.
Chi-Hua ChenCenter for Multimodal Imaging and Genetics, School of Medicine, University of California San Diego, 9452 Medical Center Drive, La Jolla, CA, 92093, USA.
Joshua M KupermanCenter for Multimodal Imaging and Genetics, School of Medicine, University of California San Diego, 9452 Medical Center Drive, La Jolla, CA, 92093, USA.
Donald J HaglerCenter for Multimodal Imaging and Genetics, School of Medicine, University of California San Diego, 9452 Medical Center Drive, La Jolla, CA, 92093, USA.
Vidar M SteenNORMENT, KG Jebsen Centre for Psychosis Research, Department of Clinical Science, University of Bergen, Bergen, Norway.
Stephanie Le HellardNORMENT, KG Jebsen Centre for Psychosis Research, Department of Clinical Science, University of Bergen, Bergen, Norway.
Asta Kristine HåbergDepartment of Neuroscience, Norwegian University of Science and Technology (NTNU), Trondheim, Norway.
Thomas EspesethDepartment of Psychology, University of Oslo, Oslo, Norway.ORCID http://orcid.org/0000-0001-9076-6365
Ole A AndreassenNORMENT, KG Jebsen Centre for Psychosis Research, Division of Mental Health and Addiction, Oslo University Hospital & Institute of Clinical Medicine, University of Oslo, Oslo, Norway.ORCID http://orcid.org/0000-0002-4461-3568
Anders M DaleDepartment of Cognitive Science, University of California San Diego, 9500 Gilman Drive, La Jolla, CA, 92093, USA.
Terry L JerniganDepartment of Cognitive Science, University of California San Diego, 9500 Gilman Drive, La Jolla, CA, 92093, USA.
Eric HalgrenDepartment of Neurosciences, School of Medicine, University of California San Diego, 9500 Gilman Drive, La Jolla, CA, 92037, USA. ehalgren@ucsd.edu.
Pediatric Imaging, Neurocognition and Genetics Study, Alzheimer’s Disease Neuroimaging Initiative
University of California San Diego · USHaukeland University Hospital · NOOslo University Hospital · NOCapital Region of Denmark · DKNorwegian University of Science and Technology · NO

Funding

Neural Basis of Emergent Math Difficulties in Healthy Preterm ChildrenR01HD075865 · NICHD · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI AKSHOOMOFF, NATACHA · 2013 to 2017
$3.0M
Examination of Neurobehavioral Development Using the PING Data ResourceR01DA038958 · NIDA · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI AKSHOOMOFF, NATACHA, BROWN, TIMOTHY TODD · 2014 to 2016
$830k
NIDA NIH HHS R01 DA038958
6 · The paper itself

Abstract

Despite great interest in using magnetic resonance imaging (MRI) for studying the effects of genes on brain structure in humans, current approaches have focused almost entirely on predefined regions of interest and had limited success. Here, we used multivariate methods to define a single neuroanatomical score of how William's Syndrome (WS) brains deviate structurally from controls. The score is trained and validated on measures of T1 structural brain imaging in two WS cohorts (training, n = 38; validating, n = 60). We then associated this score with single nucleotide polymorphisms (SNPs) in the WS hemi-deleted region in five cohorts of neurologically and psychiatrically typical individuals (healthy European descendants, n = 1863). Among 110 SNPs within the 7q11.23 WS chromosomal region, we found one associated locus (p = 5e-5) located at GTF2IRD1, which has been implicated in animal models of WS. Furthermore, the genetic signals of neuroanatomical scores are highly enriched locally in the 7q11.23 compared with summary statistics based on regions of interest, such as hippocampal volumes (n = 12,596), and also globally (SNP-heritability = 0.82, se = 0.25, p = 5e-4). The role of genetic variability in GTF2IRD1 during neurodevelopment extends to healthy subjects. Our approach of learning MRI-derived phenotypes from clinical populations with well-established brain abnormalities characterized by known genetic lesions may be a powerful alternative to traditional region of interest-based studies for identifying genetic variants regulating typical brain development.

Indexed as

AdolescentAdultAgedAged, 80 and overCase-Control StudiesChildChild, PreschoolEndophenotypesEuropeFemaleHippocampusHumansMagnetic Resonance ImagingMaleMiddle AgedMultivariate AnalysisGTF2IRD1 protein, humanMuscle ProteinsNuclear ProteinsTrans-Activators

Identifiers

PMID29884845
PMCPMC5993783
OpenAlexW2806623294

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

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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.