Evidence map›Paper›PMID 33098356›Full record

ArticleHuman brain mapping2022

Evaluating brain structure traits as endophenotypes using polygenicity and discoverability.

Nana Matoba, Michael I Love, Jason L Stein

Abstract read
In one paragraph

Article in Human brain mapping, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.

0numbers the graph read from it
0cells of the map it votes in
19citing 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

19 citing papers in PubMed.

  1. Article
  2. Article
  3. Syndrome-Specific Neuroanatomical Phenotypes in Girls With Turner and Noonan Syndromes.Biological psychiatry. Cognitive neuroscience and neuroimaging · 2024
    Article
  4. Article
  5. Review
  6. Review
  7. Article
  8. Article
  9. Article
  10. Article
  11. Article
  12. Article
  13. Article
  14. Article
  15. Article
  16. From base pair to brain.Nature neuroscience · 2021
    Article
  17. Review
  18. Multivariate Analysis and Modelling of multiple Brain endOphenotypes: Let's MAMBO!Computational and structural biotechnology journal · 2021
    Review
  19. 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

3 authors.

Nana MatobaDepartment of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.ORCID 0000-0001-5329-0134
Michael I LoveDepartment of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.
Jason L SteinDepartment of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.ORCID 0000-0003-4829-0513

Funding

Tissue Procurement & PathologyP50CA058223 · NCI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI CHARLES M PEROU · 1992 to 2026
$59.3M
The influence of common genetic variation on brain overgrowth pathwaysR01MH120125 · NIMH · UNIV OF NORTH CAROLINA CHAPEL HILL · PI STEIN, JASON LOUIS · 2019 to 2023
$2.5M
pathQTL: Integrative Multi-Omics Causal Inference of Molecular Mechanisms Leading to Neuropsychiatric IllnessR01MH118349 · NIMH · UNIV OF NORTH CAROLINA CHAPEL HILL · PI LOVE, MICHAEL ISAIAH, STEIN, JASON LOUIS · 2019 to 2023
$2.4M
Quantifying the developmental trajectory of autism-associated brain overgrowth using 3D cellular resolution imagingR01MH121433 · NIMH · UNIV OF NORTH CAROLINA CHAPEL HILL · PI STEIN, JASON LOUIS · 2019 to 2023
$2.2M
NCI NIH HHS P50 CA058223NIMH NIH HHS R01 MH118349NIMH NIH HHS R01MH118349NIMH NIH HHS R01 MH120125NIMH NIH HHS R01MH120125NIMH NIH HHS R01 MH121433NIMH NIH HHS R01MH121433
6 · The paper itself

Abstract

Human brain structure traits have been hypothesized to be broad endophenotypes for neuropsychiatric disorders, implying that brain structure traits are comparatively "closer to the underlying biology." Genome-wide association studies from large sample sizes allow for the comparison of common variant genetic architectures between traits to test the evidence supporting this claim. Endophenotypes, compared to neuropsychiatric disorders, are hypothesized to have less polygenicity, with greater effect size of each susceptible SNP, requiring smaller sample sizes to discover them. Here, we compare polygenicity and discoverability of brain structure traits, neuropsychiatric disorders, and other traits (91 in total) to directly test this hypothesis. We found reduced polygenicity (FDR = 0.01) and increased discoverability (FDR = 3.68 × 10

Indexed as

Cerebral CortexEndophenotypesGenetic Predisposition to DiseaseInheritance PatternsMental DisordersNervous System DiseasesNeuroimagingBrain Cortical ThicknessGenome-Wide Association StudyHumansMultifactorial InheritancePolymorphism, Single Nucleotidecortical structureendophenotypesgenetic architectureneuropsychiatric disorders

Identifiers

PMID33098356
PMCPMC8675430

What OpenQuestion holds

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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.