A combined genomic arrhythmia propensity score delineates cumulative risk

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.

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Publication Details

Journal
Cell Reports Medicine
Published
2025-11-01
DOI
https://doi.org/10.1016/j.xcrm.2025.102455
Primary Topic
Cardiac electrophysiology and arrhythmias
Type
article
Field-Weighted Citation Impact
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article

A combined genomic arrhythmia propensity score delineates cumulative risk

Prince J. Kannankeril, Megan J. Puckelwartz, Gregory Webster, Nora Ibrahim et al.
Cell Reports Medicine
Cardiac electrophysiology and arrhythmias
article

A combined genomic arrhythmia propensity score delineates cumulative risk

Prince J. Kannankeril, Megan J. Puckelwartz, Gregory Webster, Nora Ibrahim, Patrick Page, Zachary Weber, Lorenzo L. Pesce, Laura J. Rasmussen‐Torvik, Emmanuel Ifeanyichukwu Ugwor, Samuel Kearns, Tanner O. Monroe, Marcelo A. Nóbrega, Lisa Dellefave‐Castillo, Elizabeth M. McNally, Alfred L George
article en

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.

Cell Reports MedicineVol. 6(11)
Northwestern University (US), University of Chicago (US), Lurie Children's Hospital (US), Robert H. Lurie Comprehensive Cancer Center of Northwestern University, Vanderbilt University Medical Center (US)
Openalex Percentile: Top 48%
Cardiac electrophysiology and arrhythmias
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