PGS Publication: PGP000586

Publication Information (EuropePMC)
Title Predictive Accuracy of a Clinical and Genetic Risk Model for Atrial Fibrillation.
PubMed ID 34463125(Europe PMC)
doi 10.1161/circgen.121.003355
Publication Date Aug. 31, 2021
Journal Circ Genom Precis Med
Author(s) Khurshid S, Mars N, Haggerty CM, Huang Q, Weng LC, Hartzel DN, Regeneron Genetics Center, Lunetta KL, Ashburner JM, Anderson CD, Benjamin EJ, Salomaa V, Ellinor PT, Fornwalt BK, Ripatti S, Trinquart L, Lubitz SA.
Released in PGS Catalog: Feb. 20, 2024

Associated Polygenic Score(s)

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Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
List of ancestries includes:
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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

External PGS Evaluated By This Publication

Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution
GWAS
Dev
Eval
Scoring File (FTP Link)
PGS000035
(PRS_AF)
PGP000022 |
Weng LC et al. Circulation (2017)
Atrial fibrillation atrial fibrillation 1,168
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000035/ScoringFiles/PGS000035.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
PPM020775 PGS000035
(PRS_AF)
PSS011406|
Multi-ancestry (including European)|
473,681 individuals
PGP000586 |
Khurshid S et al. Circ Genom Precis Med (2021)
|Ext.
Reported Trait: Incident atrial fibrillation HR: 1.34 [1.31, 1.37] C-index: 0.584 [0.577, 0.59] : 0.004 [0.004, 0.005]
PPM020776 PGS000035
(PRS_AF)
PSS011404|
European Ancestry|
10,560 individuals
PGP000586 |
Khurshid S et al. Circ Genom Precis Med (2021)
|Ext.
Reported Trait: Incident atrial fibrillation HR: 1.48 [1.31, 1.66] C-index: 0.615 [0.579, 0.65] : 0.011 [0.004, 0.018]
PPM020777 PGS000035
(PRS_AF)
PSS011405|
Multi-ancestry (including European)|
55,517 individuals
PGP000586 |
Khurshid S et al. Circ Genom Precis Med (2021)
|Ext.
Reported Trait: Incident atrial fibrillation HR: 1.28 [1.21, 1.35] C-index: 0.569 [0.554, 0.584] : 0.003 [0.002, 0.005]
PPM020778 PGS000035
(PRS_AF)
PSS011403|
Multi-ancestry (including European)|
3,335 individuals
PGP000586 |
Khurshid S et al. Circ Genom Precis Med (2021)
|Ext.
Reported Trait: Incident atrial fibrillation HR: 1.49 [1.3, 1.71] C-index: 0.617 [0.574, 0.66] : 0.016 [0.004, 0.027]

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
PSS011403 Cases were individuals with atrial fibrillation (AF). Individuals were classified as having AF if the arrhythmia was present on an ECG obtained at a study visit or encounter with external clinicians, Holter monitoring, or noted in hospital records. Study investigators reviewed all available records to determine dates of AF. Two physicians adjudicated first-detected AF events.
[
  • 183 cases
  • , 3,152 controls
]
,
44.6 % Male samples
Mean = 59.4 years
Sd = 15.5 years
European, Not reported FHS
PSS011404 Cases were individuals with atrial fibrillation (AF). Cases were identified using ICD-10 code: I48 and ICD-9 code: 427.3.
[
  • 299 cases
  • , 10,331 controls
]
,
47.7 % Male samples
Mean = 57.0 years
Sd = 7.4 years
European FINRISK
PSS011405 Cases were individuals with atrial fibrillation (AF). AF was defined as a clinically reported finding of AF or atrial flutter from a 12- lead ECG or a diagnosis of AF or atrial flutter applied to two or more inpatient or outpatient encounters or on the patient problem list from the institutional electronic health record. Diagnosis codes used to define AF included ICD10: I48.0, I48.1, I48.2, I48.3 and I48.91); ICD9: 427.31; and 92 separate internal codes.
[
  • 1,336 cases
  • , 54,181 controls
]
,
34.2 % Male samples
Mean = 47.3 years
Sd = 15.2 years
European, Not reported MyCode
PSS011406 Cases were individuals with atrial fibrillation (AF). Cases were identified using using self-report, ICD 9/10 codes, or cause of death records and where available, codes for specific AF-related procedures (e.g., percutaneous transluminal ablation of pulmonary vein) were also utilized in the AF definition. The complete list of clinical factor definitions is shown in supplemental Table I.
[
  • 7,192 cases
  • , 466,489 controls
]
,
45.3 % Male samples
Mean = 56.9 years
Sd = 8.1 years
European, Not reported UKB Possible sample overlap between this dataset and the dataset used to develop/train PGS000035.