Polygenic Score (PGS) ID: PGS001779

Predicted Trait
Reported Trait Brugada syndrome
Mapped Trait(s) Brugada syndrome (MONDO_0015263)
Released in PGS Catalog: March 16, 2022
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Score Details

Score Construction
PGS Name BRSprs
Development Method
Name Independent lead SNPs (GWAS C+T)
Parameters p < 5E-8
Variants
Original Genome Build GRCh37
Number of Variants 21
Effect Weight Type NR
PGS Source
PGS Catalog Publication (PGP) ID PGP000260
Citation (link to publication) Barc J et al. Nat Genet (2022)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 100%
12,821 individuals (100%)
PGS Evaluation
European: 100%
10 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
GWAS Catalog: GCST90086158
[
  • 2,820 cases
  • , 10,001 controls
]
 European NR

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
PPM009271 PSS007680|
European Ancestry|
359,017 individuals
 PGP000260 |
Barc J et al. Nat Genet (2022)
 Reported Trait: Supraventricular tachycardia OR: 0.92 [0.89, 0.96] — p-value: 4e-05 — —
PPM009270 PSS007675|
European Ancestry|
359,017 individuals
 PGP000260 |
Barc J et al. Nat Genet (2022)
 Reported Trait: Conduction system disorder orbradyarrhythmia OR: 1.06 [1.03, 1.08] — p-value: 4.63e-06 — —
PPM009272 PSS007676|
European Ancestry|
11,942 individuals
 PGP000260 |
Barc J et al. Nat Genet (2022)
 Reported Trait: PQ interval β: 2.69866 — p-value: 1.90e-45 — —
PPM009273 PSS007677|
European Ancestry|
11,566 individuals
 PGP000260 |
Barc J et al. Nat Genet (2022)
 Reported Trait: P wave duration β: 0.7576 — p-value: 5.32e-09 — —
PPM009274 PSS007678|
European Ancestry|
11,877 individuals
 PGP000260 |
Barc J et al. Nat Genet (2022)
 Reported Trait: QRS complex duration β: 1.23043 — p-value: 4.21e-55 — —
PPM009268 PSS007671|
European Ancestry|
359,017 individuals
 PGP000260 |
Barc J et al. Nat Genet (2022)
 Reported Trait: Atrial fibrillation or flutter OR: 0.94 [0.92, 0.95] — p-value: 6.22e-13 — —
PPM009269 PSS007672|
European Ancestry|
359,017 individuals
 PGP000260 |
Barc J et al. Nat Genet (2022)
 Reported Trait: Atrioventricular conduction disorder OR: 1.16 [1.1, 1.21] — p-value: 1.47e-09 — —
PPM009275 PSS007679|
European Ancestry|
11,893 individuals
 PGP000260 |
Barc J et al. Nat Genet (2022)
 Reported Trait: QT interval β: -1.56242 — p-value: 4.75e-16 — —
PPM009266 PSS007673|
European Ancestry|
2,469 individuals
 PGP000260 |
Barc J et al. Nat Genet (2022)
 Reported Trait: SCN5A Mutation in Burgada syndrome cases β: -0.45 — p-value: 2.10e-17 — —
PPM009267 PSS007674|
European Ancestry|
2,820 individuals
 PGP000260 |
Barc J et al. Nat Genet (2022)
 Reported Trait: Brugada baseline or drug-induced type 1 ECG in Burgada syndrome cases β: 0.18 — p-value: 2e-05 — —

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
PSS007671 An atrial tachyarrhythmia characterised by rapid (usually faster than 300 bpm), irregular and uncoordinated atrial impulse generation, usually manifesting on ECG with indistinct P-waves and an irregularly irregular ventricular response. —
[
  • 13,763 cases
  • , 345,254 controls
]
 — European British UKB —
PSS007672 Disorder of the atrioventricular conduction system in which there is failure of all atrial impulses to propagate to the ventricle —
[
  • 1,716 cases
  • , 357,301 controls
]
 — European British UKB —
PSS007673 Pathogenicity of rare variants in SCN5A identified in included BrS cases was centrally assessed using the American College of Medical Genetics and Genomics and Association of Molecular Pathology (ACMG/AMP) guidelines, using an adapted version of CardioClassifier incorporating a quantitative approach based on case-control analyses, as performed previously in hypertrophic cardiomyopathy genes, as well as a curated compendium of functional data. —
[
  • 454 cases
  • , 2,015 controls
]
 — European Dutch, Belgian, German, British, Turkish, Italian, Spanish, Danish, French, Irish NR These samples overlap with the cases used in the score development
PSS007674 A type 1 Brugada Syndrome ECG was defined as a coved type ST elevation at baseline (spontaneous) or after a drug challenge test, in one or more leads in the right precordial leads V1 and/or V2 in the standard position (4th intercostal space) or in high positions (2nd or 3rd intercostal spaces). —
[
  • 993 cases
  • , 1,827 controls
]
 — European Dutch, Belgian, German, British, Turkish, Italian, Spanish, Danish, French, Irish NR These samples overlap with the cases used in the score development
PSS007675 Disorder of the atrioventricular conduction system in which there is failure of all atrial impulses to propagate to the ventricle or Any of a number of possible arrhythmias originating from at or above the level of bundle of His in which the heart beats slower than the age-dependent lower limits of normal. —
[
  • 6,711 cases
  • , 352,306 controls
]
 — European British UKB —
PSS007676 Electrocardiogram PQ interval — 11,942 individuals — European British UKB —
PSS007677 Electrocardiogram P-wave duration — 11,566 individuals — European British UKB —
PSS007678 Electrocardiogram QRS duration — 11,877 individuals — European British UKB —
PSS007679 Electrocardiogram QT interval — 11,893 individuals — European British UKB —
PSS007680 associated with episodes of atrial tachycardia —
[
  • 2,645 cases
  • , 356,372 controls
]
 — European British UKB —