Evidence map›Paper›PMID 38555309›Full record

SynthesisTranslational psychiatry2024

Genetic and phenotypic similarity across major psychiatric disorders: a systematic review and quantitative assessment.

Vincent-Raphael Bourque, Cécile Poulain, Catherine Proulx, Clara A Moreau, Ridha Joober, Baudouin Forgeot d'Arc, Guillaume Huguet, Sébastien Jacquemont

Open access · goldAbstract readSystematic Review
In one paragraph

Synthesis in Translational psychiatry, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
29citing papers in PubMed, 2 pooled it
17.6field-weighted citation impact, top 1% 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

29 citing papers in PubMed, 2 syntheses or guidelines pooled it, 32 citations in OpenAlex.

  1. Pooled it
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  16. GWAS for behavioral traits in golden retrievers identifies genes implicated in human temperament, mental health, and cognition.Proceedings of the National Academy of Sciences of the United States of America · 2025
    Article
  17. Multimorbidity and animal models.Animal models and experimental medicine · 2025
    Review
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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

8 authors at 3 institutions in 2 countries.

Vincent-Raphael BourqueCHU Sainte-Justine Azrieli Research Center, Université de Montréal, Montreal, QC, Canada.
Cécile PoulainCHU Sainte-Justine Azrieli Research Center, Université de Montréal, Montreal, QC, Canada.ORCID 0000-0002-5371-1581
Catherine ProulxCHU Sainte-Justine Azrieli Research Center, Université de Montréal, Montreal, QC, Canada.
Clara A MoreauImaging Genetics Center, Stevens Institute for Neuroimaging and Informatics, Keck School of Medicine, University of Southern California, Marina del Rey, CA, USA.ORCID 0000-0001-6217-731X
Ridha JooberDouglas Mental Health University Institute, Department of Psychiatry, McGill University, Montréal, QC, Canada.
Baudouin Forgeot d'ArcCHU Sainte-Justine Azrieli Research Center, Université de Montréal, Montreal, QC, Canada.
Guillaume HuguetCHU Sainte-Justine Azrieli Research Center, Université de Montréal, Montreal, QC, Canada.
Sébastien JacquemontCHU Sainte-Justine Azrieli Research Center, Université de Montréal, Montreal, QC, Canada. sebastien.jacquemont@umontreal.ca.ORCID 0000-0001-6838-8767
Centre Hospitalier Universitaire Sainte-Justine · CADouglas Mental Health University Institute · CAUniversity of Southern California · US

Funding

Large-Scale Evaluation of the Effect of Rare Genetic Variants on Psychiatric Symptoms and Cognitive AbilityU01MH119690 · NIMH · BOSTON CHILDREN'S HOSPITAL · PI ALMASY, LAURA A., GLAHN, DAVID C · 2019 to 2023
$5.9M
Neurodevelopment and Psychosis in the 22q11.2 Copy Number VariantsR37MH085953 · NIMH · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI CARRIE E BEARDEN · 2023 to 2026
$2.9M
Understanding Rare Genetic Variation and Disease Risk: A Global Neurogenetics InitiativeR01MH129858 · NIMH · SAINTE-JUSTINE UNIVERSITY HOSPITAL CTR · PI CARRIE E BEARDEN, Sebastien Jacquemont · 2023 to 2026
$2.4M
6/9: Dissecting the effects of genomic variants on neurobehavioral dimensions in CNVs enriched for neuropsychiatric disorders.U01MH119739 · NIMH · SAINTE-JUSTINE UNIVERSITY HOSPITAL CTR · PI JACQUEMONT, SEBASTIEN · 2020 to 2024
$527k
NIMH NIH HHS R01 MH129858NIMH NIH HHS R37 MH085953NIMH NIH HHS U01 MH119690NIMH NIH HHS U01 MH119739
6 · The paper itself

Abstract

There is widespread overlap across major psychiatric disorders, and this is the case at different levels of observations, from genetic variants to brain structures and function and to symptoms. However, it remains unknown to what extent these commonalities at different levels of observation map onto each other. Here, we systematically review and compare the degree of similarity between psychiatric disorders at all available levels of observation. We searched PubMed and EMBASE between January 1, 2009 and September 8, 2022. We included original studies comparing at least four of the following five diagnostic groups: Schizophrenia, Bipolar Disorder, Major Depressive Disorder, Autism Spectrum Disorder, and Attention Deficit Hyperactivity Disorder, with measures of similarities between all disorder pairs. Data extraction and synthesis were performed by two independent researchers, following the PRISMA guidelines. As main outcome measure, we assessed the Pearson correlation measuring the degree of similarity across disorders pairs between studies and biological levels of observation. We identified 2975 studies, of which 28 were eligible for analysis, featuring similarity measures based on single-nucleotide polymorphisms, gene-based analyses, gene expression, structural and functional connectivity neuroimaging measures. The majority of correlations (88.6%) across disorders between studies, within and between levels of observation, were positive. To identify a consensus ranking of similarities between disorders, we performed a principal component analysis. Its first dimension explained 51.4% (95% CI: 43.2, 65.4) of the variance in disorder similarities across studies and levels of observation. Based on levels of genetic correlation, we estimated the probability of another psychiatric diagnosis in first-degree relatives and showed that they were systematically lower than those observed in population studies. Our findings highlight that genetic and brain factors may underlie a large proportion, but not all of the diagnostic overlaps observed in the clinic.

Indexed as

Autism Spectrum DisorderBipolar DisorderMajor Depressive DisorderPhenotypeSchizophreniaAttention Deficit Disorder with HyperactivityBrainHumansMental DisordersPolymorphism, Single Nucleotide

Identifiers

PMID38555309
PMCPMC10981737
OpenAlexW4393336971

What OpenQuestion holds

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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.