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
  • A-fib
  • AF
  • AF - Atrial fibrillation
  • AFib
  • Atrial Fibrillations
  • Atrial fibrillation (disorder)
  • Auricular Fibrillation
  • Auricular Fibrillations
  • Fibrillation, Atrial
  • Fibrillation, Auricular
  • Fibrillations, Atrial
  • Fibrillations, Auricular
  • atrial fibrillation
  • atrial fibrillation (disease)
Mapped term(s) 15 mapped terms
  • COHD:313217
  • DOID:0060224
  • HP:0005110
  • ICD10:I48
  • ICD9:427.31
  • MONDO:0004981
  • MeSH:D001281
  • NCIT:C50466
  • NCIt:C50466
  • OMIM:611819
  • OMIM:613120
  • OMIM:615770
  • SCTID:49436004
  • SNOMEDCT:49436004
  • UMLS:C0004238

Associated Polygenic Score(s)

Filter PGS by Participant Ancestry
Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
List of ancestries includes:
Display options:
Ancestry legend
Multi-ancestry (including European)
Multi-ancestry (excluding European)
African
East Asian
South Asian
Additional Asian Ancestries
European
Greater Middle Eastern
Hispanic or Latin American
Additional Diverse Ancestries
Not Reported
Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution 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 - Check Terms/Licenses
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
PGS000338
(GRS97_AF)
PGP000105 |
Kloosterman M et al. Eur J Heart Fail (2020)
Atrial fibrillation atrial fibrillation 97
-
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000338/ScoringFiles/PGS000338.txt.gz
PGS000727
(AF_PGS)
PGP000137 |
Ritchie SC et al. bioRxiv (2019)
|Pre
Atrial fibrillation atrial fibrillation 2,210,336
-
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000727/ScoringFiles/PGS000727.txt.gz

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)
Evaluated Score PGS Sample Set ID
(PSS)
Performance Source Trait PGS Effect Sizes
(per SD change)
Classification Metrics Other Metrics Covariates Included in the Model PGS Performance:
Other Relevant Information
PPM000079 PGS000035
(PRS_AF)
PSS000053|
Multi-ancestry (including European)|
4,606 individuals
PGP000022 |
Weng LC et al. Circulation (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
PPM001668 PGS000727
(AF_PGS)
PSS000867|
European Ancestry|
3,087 individuals
PGP000137 |
Ritchie SC et al. bioRxiv (2019)
|Pre
Reported Trait: Incident atrial fibrillation HR: 1.72 [1.2, 2.47] age, sex, 10 genetic PCs
PPM000385 PGS000016
(GPS_AF)
PSS000217|
European Ancestry|
10,303 individuals
PGP000057 |
Homburger JR et al. Genome Med (2019)
|Ext.
Reported Trait: Atrial Fibrillation (personal history) OR: 1.277 [1.12, 1.46] AUROC: 0.78 age, sex
PPM000025 PGS000016
(GPS_AF)
PSS000013|
European Ancestry|
288,978 individuals
PGP000006 |
Khera AV et al. Nat Genet (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
PPM000898 PGS000331
(PRS_AF)
PSS000439|
European Ancestry|
10,561 individuals
PGP000100 |
Mars N et al. Nat Med (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
PPM000893 PGS000331
(PRS_AF)
PSS000439|
European Ancestry|
10,561 individuals
PGP000100 |
Mars N et al. Nat Med (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
PPM000389 PGS000016
(GPS_AF)
PSS000217|
European Ancestry|
10,303 individuals
PGP000057 |
Homburger JR et al. Genome Med (2019)
|Ext.
Reported Trait: Atrial Fibrillation (personal history) AUROC: 0.57
PPM000916 PGS000338
(GRS97_AF)
PSS000462|
European Ancestry|
3,759 individuals
PGP000105 |
Kloosterman M et al. Eur J Heart Fail (2020)
Reported Trait: Atrial fibrillation OR: 2.13 [1.86, 2.44] age, sex, PCs (1-10) of ancestry
PPM000913 PGS000338
(GRS97_AF)
PSS000462|
European Ancestry|
3,759 individuals
PGP000105 |
Kloosterman M et al. Eur J Heart Fail (2020)
Reported Trait: Atrial fibrillation OR: 2.12 [1.84, 2.45] age, height, weight, systolic blood pressure, diastolic blood pressure, current smoking, hypertension, diabetes, myocardial infarction, PCs (1-10) of ancestry
PPM000917 PGS000338
(GRS97_AF)
PSS000461|
European Ancestry|
2,262 individuals
PGP000105 |
Kloosterman M et al. Eur J Heart Fail (2020)
Reported Trait: Atrial fibrillation in individuals with heart failure and a reduced ejection fraction OR: 2.12 [1.77, 2.54] age, sex, PCs (1-10) of ancestry
PPM000915 PGS000338
(GRS97_AF)
PSS000460|
European Ancestry|
530 individuals
PGP000105 |
Kloosterman M et al. Eur J Heart Fail (2020)
Reported Trait: Atrial fibrillation in individuals with heart failure and a preserved ejection fraction OR: 2.02 [1.37, 2.99] age, height, weight, systolic blood pressure, diastolic blood pressure, current smoking, hypertension, diabetes, myocardial infarction, PCs (1-10) of ancestry
PPM000914 PGS000338
(GRS97_AF)
PSS000461|
European Ancestry|
2,262 individuals
PGP000105 |
Kloosterman M et al. Eur J Heart Fail (2020)
Reported Trait: Atrial fibrillation in individuals with heart failure and a reduced ejection fraction OR: 2.08 [1.72, 2.5] age, height, weight, systolic blood pressure, diastolic blood pressure, current smoking, hypertension, diabetes, myocardial infarction, PCs (1-10) of ancestry
PPM000920 PGS000338
(GRS97_AF)
PSS000462|
European Ancestry|
3,759 individuals
PGP000105 |
Kloosterman M et al. Eur J Heart Fail (2020)
Reported Trait: Atrial fibrillation AUROC: 0.721 [0.704, 737.0] PCs (1-10) of ancestry, CHARGE-AF risk factors (age, height, weight, systolic blood pressure, diastolic blood pressure, current smoking, myocardial infarction, diabetes)
PPM000919 PGS000338
(GRS97_AF)
PSS000462|
European Ancestry|
3,759 individuals
PGP000105 |
Kloosterman M et al. Eur J Heart Fail (2020)
Reported Trait: Atrial fibrillation AUROC: 0.606 [0.588, 0.624] PCs (1-10) of ancestry
PPM000918 PGS000338
(GRS97_AF)
PSS000460|
European Ancestry|
530 individuals
PGP000105 |
Kloosterman M et al. Eur J Heart Fail (2020)
Reported Trait: Atrial fibrillation in individuals with heart failure and a preserved ejection fraction OR: 1.82 [1.28, 2.59] age, sex, PCs (1-10) of ancestry
PPM000888 PGS000331
(PRS_AF)
PSS000442|
European Ancestry|
135,300 individuals
PGP000100 |
Mars N et al. Nat Med (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

Evaluated Samples

PGS Sample Set ID
(PSS)
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
  • , 284,402 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
European, NR 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
PSS000460 Atrial fibrillation was defined as a clinical history of AF or atrial flutter (AFL) and/or AF(L) on baseline electrocardiogram. Patients were regarded as having sinus rhythm if they had no history of AF and sinus rhythm on baseline ECG. HFpEF defined as LVEF >/= 50%
[
  • 307 cases
  • , 223 controls
]
European BIOSTAT-CHF BIOSTAT-CHF study included patients from 11 European countries. Patients from Scotland were included in the vaidation cohort between October 2010 and April 2014
PSS000461 Atrial fibrillation was defined as a clinical history of AF or atrial flutter (AFL) and/or AF(L) on baseline electrocardiogram. Patients were regarded as having sinus rhythm if they had no history of AF and sinus rhythm on baseline ECG.HFrEF defined as LVEF <40%
[
  • 1,125 cases
  • , 1,137 controls
]
European BIOSTAT-CHF BIOSTAT-CHF study included patients from 11 European countries. Patients from Scotland were included in the vaidation cohort between October 2010 and April 2014
PSS000462 Atrial fibrillation was defined as a clinical history of AF or atrial flutter (AFL) and/or AF(L) on baseline electrocardiogram. Patients were regarded as having sinus rhythm if they had no history of AF and sinus rhythm on baseline ECG.
[
  • 1,976 cases
  • , 1,783 controls
]
,
70.0 % Male samples
Mean = 72.8 years
Sd = 11.5 years
European BIOSTAT-CHF BIOSTAT-CHF study included patients from 11 European countries. Patients from Scotland were included in the vaidation cohort between October 2010 and April 2014
PSS000867 CALIBER rule-based phenotyping algorithms (https://www.caliberresearch.org/portal). ICD-10: I48 Median = 6.9 years
[
  • 33 cases
  • , 3,054 controls
]
,
51.0 % Male samples
Median = 44.0 years
Iqr = [30.5, 54.7] years
European INTERVAL