Evidence map›Paper›PMID 41223854›Full record

ArticleCell reports. Medicine2025

A combined genomic arrhythmia propensity score delineates cumulative risk.

Tanner O Monroe, Megan J Puckelwartz, Lorenzo L Pesce, Samuel D Kearns, Patrick Page, Nora Ibrahim, Zachary T Weber, Emmanuel I Ugwor, Marcelo A Nóbrega, Prince Kannankeril and 5 more

Abstract read
In one paragraph

Article in Cell reports. Medicine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

15 authors.

Tanner O MonroeCenter for Genetic Medicine, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA. Electronic address: tanner.monroe@northwestern.edu.
Megan J PuckelwartzCenter for Genetic Medicine, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA; Department of Pharmacology, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA.
Lorenzo L PesceCenter for Genetic Medicine, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA; Department of Pharmacology, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA.
Samuel D KearnsCenter for Genetic Medicine, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA.
Patrick PageCenter for Genetic Medicine, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA.
Nora IbrahimCenter for Genetic Medicine, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA.
Zachary T WeberDepartment of Human Genetics, University of Chicago, Chicago, IL 60637, USA.
Emmanuel I UgworCenter for Genetic Medicine, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA.
Marcelo A NóbregaDepartment of Human Genetics, University of Chicago, Chicago, IL 60637, USA.
Prince KannankerilDepartment of Pediatrics, Vanderbilt University Medical Center, Nashville, TN 37232, USA.
Laura J Rasmussen-TorvikDepartment of Preventive Medicine, Northwestern University, Chicago, IL 60611, USA.
Lisa M Dellefave-CastilloCenter for Genetic Medicine, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA.
Alfred L GeorgeDepartment of Pharmacology, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA.
Gregory WebsterDepartment of Pediatrics, Division of Cardiology, Ann & Robert H. Lurie Children's Hospital of Chicago and Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA.
Elizabeth M McNallyCenter for Genetic Medicine, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA. Electronic address: elizabeth.mcnally@northwestern.edu.

Funding

MULTIDISCIPLINARY CARDIAC SCIENCEST32HL007381 · NHLBI · UNIVERSITY OF CHICAGO · PI JEANNE M DECARA, Yoav Gilad · 1985 to 2026
$12.5M
Investigating structural and genetic substrates of early-onset atrial fibrillationR01HL164773 · NHLBI · LURIE CHILDREN'S HOSPITAL OF CHICAGO · PI Robert Gregory Webster · 2023 to 2026
$2.0M
CHIcago Center for Accelerating nextGen Omics, deep phenotyping, and data science in Heart Failure (CHICAGO-HF)U01HL160279 · NHLBI · NORTHWESTERN UNIVERSITY AT CHICAGO · PI Sadiya Sana Khan, Laura J Rasmussen-Torvik · 2021 to 2026
$1.8M
Mechanisms linking the frail sarcomere to noncompaction cardiomyopathyK99HL168239 · NHLBI · NORTHWESTERN UNIVERSITY AT CHICAGO · PI MONROE, TANNER O · 2023 to 2024
$218k
NHLBI NIH HHS K99 HL168239NHLBI NIH HHS R01 HL164773NHLBI NIH HHS T32 HL007381NHLBI NIH HHS U01 HL160279
6 · The paper itself

Abstract

Cardiac ventricular arrhythmias can cause sudden death. Despite known genomic contributions, multigenic risk predictors are limited. The genetics of arrhythmias and cardiomyopathies overlap, with additional overlap with epilepsy. To improve genetic risk prediction, we assemble a cohort with non-ischemic ventricular arrhythmias and controls lacking cardiac diagnoses. Here, we integrate 18 polygenic scores; variants from clinical gene panels for coding regions of cardiomyopathy, arrhythmia, and epilepsy genes; and noncoding regulatory regions mapping to those genes. Polygenic scores alone hold prognostic value. Rare coding variants identify cumulative risk extending beyond known pathogenic/likely pathogenic variants. We also find enrichment of ultrarare regulatory variation. A risk predictor that combines all variant classes outperforms any single class or subset and replicates in a validation cohort. This combined genomic arrhythmia propensity score (GAPS) identifies high-risk individuals even among those who lack known primary pathogenic variants. This integrated approach serves as a model for other complex traits.

Indexed as

Arrhythmias, CardiacGenetic Predisposition to DiseaseGenomicsFemaleHumansMaleMiddle AgedMultifactorial InheritancePropensity ScoreRisk Factorsarrythmiacardiomyopathycommon variantsgenetic burdengenetic riskheartnoncoding variantspolygenic scorerare variantssudden cardiac death

Identifiers

PMID41223854
PMCPMC12711699

What OpenQuestion holds

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LicenceCC BY-NC-ND
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.