Trait: atrial fibrillation


Experimental Factor Ontology ID: EFO_0000275

EFO Trait Description: A disorder characterized by an electrocardiographic finding of a supraventricular arrhythmia characterized by the replacement of consistent P waves by rapid oscillations or fibrillatory waves that vary in size, shape and timing and are accompanied by an irregular ventricular response. (CDISC) [NCIT: P378]

Associated PGS

PGS Performance Metrics

Disclaimer: The performance metrics are displayed as reported by the source studies. It is important to note that metrics are not necessarily comparable with each other. For example, metrics depend on the sample characteristics (described by the PGS Catalog Sample Set [PSS] ID), phenotyping, and statistical modelling. Please refer to the source publication for additional guidance on performance.
PGS Performance Metric (PPM) ID Evaluated Score PGS Catalog Sample Set (PSS) ID Performance Source Trait PGS Effect Sizes
(per SD change)
PGS Classification Metrics Other Metrics Covariates Included in PGS Model PGS Performance: Other Relevant Information
PPM000025 PGS000016 (GPS_AF) PSS000013 Khera AV et al. (2018) Reported Trait: Atrial fibrillation cases AUROC: 0.77 [0.76 - 0.77] Nagelkerke’s R2 (estimate of variance explained by the PGS after covariate adjustment): 0.029 age; sex; Ancestry PC 1-4; genotyping chip
PPM000079 PGS000035 (PRS_AF) PSS000053 Weng LC et al. (2017) Reported Trait: Incident atrial fibrillation HR: 1.14 [1.11 - 1.16] Clinical risk (CHARGE-AF Score: height, weight, systolic and diastolic blood pressure, current smoking status, use of antihypertensive medication, diabetes mellitus, history of myocardial infarction and heart failure), age, sex, genotyping array, 1 PC of ancestry Unadjusted for Competing Risk of Death

Evaluated Samples

PGS Catalog Sample Set (PSS) ID Detailed Phenotype Description (e.g. ICD/SNOMED codes used to identify cases) Sample Numbers Sample Ancestry Additional Ancestry Description Cohort(s) Additional Sample/Cohort Information
PSS000013 Atrial fibrillation ascertainment was based on self-report of atrial fibrillation, atrial flutter, or cardioversion in an interview with a trained nurse, an ICD-9 code of 427.3 or ICD-10 code of I48.X in hospitalization records, or a history of a percutaneous ablation or cardioversion based on the OPCS-4 coded procedure (K57.1, K62.1, K62.2, K62.3, or K 62.4), as performed previously 288,978 individuals
[ 4,576 cases, 293,554 controls]
European UKB UKB Phase 2
PSS000053 Participants were classified as having AF if an arrhythmia was present on an ECG obtained at a study visit or encounter with external clinicians, Holter monitoring, or noted in hospital records during a median 9.4 years of follow-up. 4,606 individuals
[ 580 cases, 4,026 controls]
45.89665653495441 % Male samples
Other FHS is principally composed of individuals of European ancestry FHS Samples were obtained from the following FHS cohorts: Original, Offspring, and Third Generation. Participants were eligible for inclusion if they were AF free at an average age of 55.