Evidence map›Paper›PMID 37402851›Full record

ReviewMolecular psychiatry2023

Dimensional and transdiagnostic phenotypes in psychiatric genome-wide association studies.

Monika A Waszczuk, Katherine G Jonas, Marina Bornovalova, Gerome Breen, Cynthia M Bulik, Anna R Docherty, Thalia C Eley, John M Hettema, Roman Kotov, Robert F Krueger and 4 more

Abstract readReview
In one paragraph

Review in Molecular psychiatry, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.

0numbers the graph read from it
0cells of the map it votes in
21citing 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

21 citing papers in PubMed.

  1. Big data and psychiatry: advances, constraints and future directions.World psychiatry : official journal of the World Psychiatric Association (WPA) · 2026
    Article
  2. Article
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  5. Article
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  7. Article
  8. Review
  9. Article
  10. Article
  11. Article
  12. Article
  13. An Honest Reckoning With the Amygdala and Mental Illness.The American journal of psychiatry · 2024
    Review
  14. Article
  15. Article
  16. Review
  17. Generalized genetic liability to substance use disorders.The Journal of clinical investigation · 2024
    Review
  18. Article
  19. Review
  20. Assessing the validity of a self-reported clinical diagnosis of schizophrenia.medRxiv : the preprint server for health sciences · 2023
    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

14 authors.

Monika A Waszczuk *Department of Psychology, Rosalind Franklin University of Medicine and Science, North Chicago, IL, USA. monika.waszczuk@rosalindfranklin.edu.ORCID 0000-0003-1775-1970
Katherine G Jonas *Department of Psychiatry, Stony Brook University School of Medicine, Stony Brook, NY, USA.ORCID 0000-0002-1910-223X
Marina BornovalovaDepartment of Psychology, University of South Florida, Tampa, FL, USA.ORCID 0000-0002-2140-2493
Gerome BreenSocial, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.ORCID 0000-0003-2053-1792
Cynthia M BulikDepartment of Psychiatry, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.ORCID 0000-0001-7772-3264
Anna R DochertyHuntsman Mental Health Institute, Department of Psychiatry, University of Utah School of Medicine, Salt Lake City, UT, USA.ORCID 0000-0001-7139-7007
Thalia C EleySocial, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.ORCID 0000-0001-6458-0700
John M HettemaVirginia Institute for Psychiatric and Behavioral Genetics, Virginia Commonwealth University School of Medicine, Richmond, VA, USA.
Roman KotovDepartment of Psychiatry, Stony Brook University School of Medicine, Stony Brook, NY, USA.
Robert F KruegerPsychology Department, University of Minnesota, Minneapolis, MN, USA.ORCID 0000-0001-9127-5509
Todd LenczDepartment of Psychiatry, Zucker School of Medicine at Hofstra/Northwell, Hempstead, NY, USA.ORCID 0000-0001-8586-338X
James J LiDepartment of Psychology, University of Wisconsin, Madison, WI, USA.ORCID 0000-0001-8031-7216
Evangelos VassosSocial, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.ORCID 0000-0001-6363-0438
Irwin D WaldmanDepartment of Psychology, Emory University, Atlanta, GA, USA.ORCID 0000-0002-6862-1837

Funding

CTSA UM1 Program at University of UtahUM1TR004409 · NCATS · UTAH STATE HIGHER EDUCATION SYSTEM--UNIVERSITY OF UTAH · PI RACHEL HESS, Jennifer Juhl Majersik · 2023 to 2026
$21.9M
POLYGENIC PREDICTION OF PTSD TRAJECTORIES AND INFLAMMATION IN 9/11 RESPONDERSU01OH011864 · OH · STATE UNIVERSITY NEW YORK STONY BROOK · PI KOTOV, ROMAN I · 2019 to 2020
$2.0M
Improving the Precision of Genetic Markers for Psychotic DisordersK08MH122673 · NIMH · STATE UNIVERSITY NEW YORK STONY BROOK · PI JONAS, KATHERINE G · 2020 to 2023
$782k
Optimized Phenotypes for Genetic Association StudiesR21MH123908 · NIMH · STATE UNIVERSITY NEW YORK STONY BROOK · PI JONAS, KATHERINE G · 2020 to 2020
$448k
NCATS NIH HHS UM1 TR004409NIMH NIH HHS K08 MH122673NIMH NIH HHS R21 MH123908NIOSH CDC HHS U01 OH011864
6 · The paper itself

Abstract

Genome-wide association studies (GWAS) provide biological insights into disease onset and progression and have potential to produce clinically useful biomarkers. A growing body of GWAS focuses on quantitative and transdiagnostic phenotypic targets, such as symptom severity or biological markers, to enhance gene discovery and the translational utility of genetic findings. The current review discusses such phenotypic approaches in GWAS across major psychiatric disorders. We identify themes and recommendations that emerge from the literature to date, including issues of sample size, reliability, convergent validity, sources of phenotypic information, phenotypes based on biological and behavioral markers such as neuroimaging and chronotype, and longitudinal phenotypes. We also discuss insights from multi-trait methods such as genomic structural equation modelling. These provide insight into how hierarchical 'splitting' and 'lumping' approaches can be applied to both diagnostic and dimensional phenotypes to model clinical heterogeneity and comorbidity. Overall, dimensional and transdiagnostic phenotypes have enhanced gene discovery in many psychiatric conditions and promises to yield fruitful GWAS targets in the years to come.

Indexed as

Genome-Wide Association StudyMental DisordersPhenotypeBiomarkersGenetic Predisposition to DiseaseHumansPolymorphism, Single NucleotideReproducibility of ResultsBiomarkers

Identifiers

PMID37402851
PMCPMC10764644

What OpenQuestion holds

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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.