Polygenic Score (PGS) ID: PGS000338

Predicted Trait
Reported Trait Atrial fibrillation
Mapped Trait(s) atrial fibrillation (EFO_0000275)
Released in PGS Catalog: Nov. 5, 2020
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Score Details

Score Construction
PGS Name GRS97_AF
Variants
Original Genome Build hg19
Number of Variants 97
Development Method
Name Genome-wide significant SNPs
Parameters p < 1e-8, INFO score > 0.4, Hardy-Weinberg equilibrium p > 1e-6
PGS Source
PGS Catalog Publication (PGP) ID PGP000105
Citation (link to publication) Kloosterman M et al. Eur J Heart Fail (2020)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 91.4%
East Asian: 6.3%
African: 1.5%
Hispanic or Latin American: 0.9%
588,190 individuals (100%)
PGS Evaluation
European: 100%
3 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry
GWAS Catalog: GCST006061
Europe PMC: 29892015
8,967 individuals African American or Afro-Caribbean
GWAS Catalog: GCST006061
Europe PMC: 29892015
537,409 individuals European
GWAS Catalog: GCST006061
Europe PMC: 29892015
5,022 individuals Hispanic or Latin American
GWAS Catalog: GCST006061
Europe PMC: 29892015
36,792 individuals East Asian
(Japanese)

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)
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
PPM000916 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 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 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 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 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 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 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 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

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
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