Polygenic Score (PGS) ID: PGS000737

Predicted Trait
Reported Trait Brugada syndrome
Mapped Trait(s) Brugada syndrome (MONDO_0015263)
Released in PGS Catalog: Feb. 23, 2021
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Score Details

Score Construction
PGS Name PRS_BrS
Development Method
Name Genome-wide significant variants
Parameters NR
Variants
Original Genome Build GRCh37
Number of Variants 3
Effect Weight Type beta
PGS Source
PGS Catalog Publication (PGP) ID PGP000144
Citation (link to publication) Tadros R et al. Eur Heart J (2019)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 100%
1,427 individuals (100%)
PGS Evaluation
European: 100%
1 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
GWAS Catalog: GCST002098
Europe PMC: 23872634
 1,427 individuals European DESIR

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
PPM001757 PSS000905|
European Ancestry|
1,185 individuals
 PGP000144 |
Tadros R et al. Eur Heart J (2019)
 Reported Trait: Ajmaline-induced Type I Brugada syndrome electrocardiogram OR: 1.174 [1.138, 1.21] — — — —
PPM001758 PSS000905|
European Ancestry|
1,185 individuals
 PGP000144 |
Tadros R et al. Eur Heart J (2019)
 Reported Trait: Ajmaline-induced Type I Brugada syndrome electrocardiogram — C-index: 0.68 [0.65, 0.71] correlation coefficient (r): -0.14 — —

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
PSS000905 Intravenous ajmaline was administered at consecutive boluses of 10 mg/min. A 10-s ECG was recorded ∼1 min after each bolus using a GE Healthcare electrocardiograph. The test was stopped when the target dose of 1 mg/kg rounded up to the next 10 mg was reached, if ventricular arrhythmia occurred, or at the manifestation of a Type I BrS pattern, defined as an ST elevation >2 mm with a coved morphology in any lead among V1–V2 in the 2nd to 4th intercostal spaces.15 — 1,185 individuals — European — Amsterdam —