Evidence map›Paper›PMID 32919613›Full record

ArticleBiological psychiatry2021

Polygenic Risk of Psychiatric Disorders Exhibits Cross-trait Associations in Electronic Health Record Data From European Ancestry Individuals.

Rachel L Kember, Alison K Merikangas, Shefali S Verma, Anurag Verma, Renae Judy, Regeneron Genetics Center, Scott M Damrauer, Marylyn D Ritchie, Daniel J Rader, Maja Bućan

Open access · hybridAbstract read
In one paragraph

Article in Biological psychiatry, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.

0numbers the graph read from it
0cells of the map it votes in
32citing papers in PubMed
4.5field-weighted citation impact, top 5% 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

32 citing papers in PubMed, 51 citations in OpenAlex.

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  15. Multi-polygenic scores in psychiatry: From disorder specific to transdiagnostic perspectives.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2024
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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

10 authors at 3 institutions in 1 country.

Rachel L KemberDepartment of Psychiatry, University of Pennsylvania, Philadelphia, Pennsylvania; Mental Illness Research Education and Clinical Center, Corporal Michael J. Crescenz VA Medical Center, Philadelphia, Pennsylvania. Electronic address: rkember@pennmedicine.upenn.edu.
Alison K MerikangasDepartment of Biomedical and Health Informatics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Shefali S VermaDepartment of Genetics, University of Pennsylvania, Philadelphia, Pennsylvania.
Anurag VermaDepartment of Genetics, University of Pennsylvania, Philadelphia, Pennsylvania.
Renae JudyDepartment of Surgery, University of Pennsylvania, Philadelphia, Pennsylvania.
Regeneron Genetics Center
Scott M DamrauerDepartment of Surgery, University of Pennsylvania, Philadelphia, Pennsylvania; Department of Surgery, Corporal Michael J. Crescenz VA Medical Center, Philadelphia, Pennsylvania.
Marylyn D RitchieDepartment of Genetics, University of Pennsylvania, Philadelphia, Pennsylvania; Institute for Biomedical Informatics, University of Pennsylvania, Philadelphia, Pennsylvania.
Daniel J RaderDepartment of Genetics, University of Pennsylvania, Philadelphia, Pennsylvania; Department of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
Maja BućanDepartment of Psychiatry, University of Pennsylvania, Philadelphia, Pennsylvania; Department of Genetics, University of Pennsylvania, Philadelphia, Pennsylvania.
University of Pennsylvania · USPhiladelphia VA Medical Center · USChildren's Hospital of Philadelphia · US

Funding

Phenotypic Diversity in COVID-19UL1TR001878 · NCATS · UNIVERSITY OF PENNSYLVANIA · PI FITZGERALD, GARRET A · 2016 to 2025
$102.4M
Precision Cardio-Metabolic Phenotyping for Genetic Discovery and Risk PredictionIK2CX001780 · VA · PHILADELPHIA VA MEDICAL CENTER · PI DAMRAUER, SCOTT MICHAEL · 2018 to 2023
–
CSRD VA IK2 CX001780NCATS NIH HHS UL1 TR001878
6 · The paper itself

Abstract

backgroundPrediction of disease risk is a key component of precision medicine. Common traits such as psychiatric disorders have a complex polygenic architecture, making the identification of a single risk predictor difficult. Polygenic risk scores (PRSs) denoting the sum of an individual's genetic liability for a disorder are a promising biomarker for psychiatric disorders, but they require evaluation in a clinical setting.

methodsWe developed PRSs for 6 psychiatric disorders (schizophrenia, bipolar disorder, major depressive disorder, cross disorder, attention-deficit/hyperactivity disorder, and anorexia nervosa) and 17 nonpsychiatric traits in more than 10,000 individuals from the Penn Medicine Biobank with accompanying electronic health records. We performed phenome-wide association analyses to test their association across disease categories.

resultsFour of the 6 psychiatric PRSs were associated with their primary phenotypes (odds ratios from 1.2 to 1.6). Cross-trait associations were identified both within the psychiatric domain and across trait domains. PRSs for coronary artery disease and years of education were significantly associated with psychiatric disorders, largely driven by an association with tobacco use disorder.

conclusionsWe demonstrated that the genetic architecture of electronic health record-derived psychiatric diagnoses is similar to ascertained research cohorts from large consortia. Psychiatric PRSs are moderately associated with psychiatric diagnoses but are not yet clinically predictive in naïve patients. Cross-trait associations for these PRSs suggest a broader effect of genetic liability beyond traditional diagnostic boundaries. As identification of genetic markers increases, including PRSs alongside other clinical risk factors may enhance prediction of psychiatric disorders and associated conditions in clinical registries.

Indexed as

Bipolar DisorderMajor Depressive DisorderElectronic Health RecordsGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansMultifactorial InheritancePhenotypeBiomarkersCross-traitElectronic health recordsGeneticsPolygenic risk scoresPsychiatric disorders

Identifiers

PMID32919613
PMCPMC7770066
OpenAlexW3040213045

What OpenQuestion holds

Textmetadata
LicenceTDM
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.