Trait: atrial fibrillation

Experimental Factor Ontology (EFO) Information
Identifier EFO_0000275
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]
Trait category
Cardiovascular disease
Synonyms 14 synonyms
  • AFib
  • AF
  • Auricular Fibrillation
  • Fibrillations, Auricular
  • Atrial fibrillation (disorder)
  • AF - Atrial fibrillation
  • Auricular Fibrillations
  • Fibrillation, Atrial
  • atrial fibrillation
  • atrial fibrillation (disease)
  • Atrial Fibrillations
  • A-fib
  • Fibrillation, Auricular
  • Fibrillations, Atrial
Mapped term(s) 15 mapped terms
  • ICD9:427.31
  • NCIt:C50466
  • OMIM:611819
  • SCTID:49436004
  • HP:0005110
  • ICD10:I48
  • OMIM:615770
  • UMLS:C0004238
  • MSH:D001281
  • OMIM:613120
  • DOID:0060224
  • MONDO:0004981
  • SNOMEDCT:49436004
  • COHD:313217
  • NCIT:C50466

Associated Polygenic Score(s)

Polygenic Score (PGS) ID PGS Name PGS Publication (PGP) ID Reported Trait Mapped Trait(s) (Ontology) Number of Variants PGS Scoring File (FTP Link)
PGS000016 GPS_AF PGP000006
Khera AV et al. Nat Genet (2018)
Atrial fibrillation atrial fibrillation 6,730,541 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000016/ScoringFiles/PGS000016.txt.gz
PGS000035 PRS_AF PGP000022
Weng LC et al. Circulation (2017)
Atrial fibrillation atrial fibrillation 1,168 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000035/ScoringFiles/PGS000035.txt.gz
PGS000331 PRS_AF PGP000100
Mars N et al. Nat Med (2020)
Atrial fibrillation atrial fibrillation 6,183,494 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000331/ScoringFiles/PGS000331.txt.gz

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 ID
(PPM ID)
Evaluated Score PGS Sample Set ID
(PSS ID)
Performance Source Trait PGS Effect Sizes
(per SD change)
PGS Classification Metrics Other Metrics Covariates Included in the Model PGS Performance: Other Relevant Information
PPM000389 PGS000016 (GPS_AF) PSS000217 PGP000057
Homburger JR et al. (2019)
Ext.
Reported Trait: Atrial Fibrillation (personal history) AUROC: 0.57
PPM000025 PGS000016 (GPS_AF) PSS000013 PGP000006
Khera AV et al. (2018)
Reported Trait: Atrial fibrillation 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
PPM000385 PGS000016 (GPS_AF) PSS000217 PGP000057
Homburger JR et al. (2019)
Ext.
Reported Trait: Atrial Fibrillation (personal history) OR: 1.277[1.12, 1.46] AUROC: 0.78 age, sex
PPM000079 PGS000035 (PRS_AF) PSS000053 PGP000022
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
PPM000888 PGS000331 (PRS_AF) PSS000442 PGP000100
Mars N et al. (2020)
Reported Trait: Atrial fibrillation (incident and prevalent cases) HR: 1.62[1.59, 1.65] genotyping array/batch, 10 ancestry PCs, stratified by sex
PPM000893 PGS000331 (PRS_AF) PSS000439 PGP000100
Mars N et al. (2020)
Reported Trait: Incident atrial fibrillation HR: 1.62[1.54, 1.7] C-index: 0.751 age, sex, FINRISK cohort, genotyping array/batch, 10 ancestry PCs 5-year risk
PPM000898 PGS000331 (PRS_AF) PSS000439 PGP000100
Mars N et al. (2020)
Reported Trait: Incident atrial fibrillation C-index: 0.734 CHARGE-AF calculator (age, height, weight, SBP, DBP, smoking status, blood-pressure-lowering medication, diabetes, heart failure and history of myocardial infarction), FINRISK cohort, genotyping array/batch, 10 ancestry PCs 5-year risk

Evaluated Samples

PGS Sample Set ID
(PSS ID)
Phenotype Definitions and Methods Participant Follow-up Time Sample Numbers Age of Study Participants 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
[
  • 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.
[
  • 580 cases
  • , 4,026 controls
]
,
45.9 % 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.
PSS000439 National registries were used to assess disease incidence. Follow-up ended at first-ever diagnosis of the disease of interest, death or at the end of follow-up on December 31, 2018, whichever came first. Disease endpoints are defined in Table S9.
[
  • 229 cases
  • , 10,332 controls
]
,
47.3 % Male samples
Mean (Age At Baseline) = 48.0 years European
(Finnish)
FINRISK FINRISK surveys from 1992, 1997, 2002 and 2007
PSS000442 National registries were used to assess disease incidence. Follow-up ended at first-ever diagnosis of the disease of interest, death or at the end of follow-up on December 31, 2018, whichever came first. Disease endpoints are defined in Table S9.
[
  • 12,809 cases
  • , 122,491 controls
]
,
43.7 % Male samples
Mean (Age At Baseline) = 59.2 years
Sd = 16.6 years
European
(Finnish)
FinnGen
PSS000217 Phenotypic information was self-reported by the individual through an online, interactive health history tool
[
  • 239 cases
  • , 10,064 controls
]
,
17.1 % Male samples
European CG Samples are individuals whose healthcare provider had ordered a Color Genomics multi-gene panel test