PGS Publication: PGP000144

Publication Information (EuropePMC)
Title Predicting cardiac electrical response to sodium-channel blockade and Brugada syndrome using polygenic risk scores.
PubMed ID 31504448(Europe PMC)
doi 10.1093/eurheartj/ehz435
Publication Date Oct. 1, 2019
Journal Eur Heart J
Author(s) Tadros R, Tan HL, ESCAPE-NET Investigators, El Mathari S, Kors JA, Postema PG, Lahrouchi N, Beekman L, Radivojkov-Blagojevic M, Amin AS, Meitinger T, Tanck MW, Wilde AA, Bezzina CR.
Released in PGS Catalog: Feb. 23, 2021

Associated Polygenic Score(s)

PGS Developed By This Publication

Polygenic Score (PGS) ID PGS Name PGS Publication (PGP) ID Reported Trait Mapped Trait(s) (Ontology) Number of Variants PGS Scoring File (FTP Link)
PGS000735 PRS_PR PGP000144
Tadros R et al. Eur Heart J (2019)
PR interval PR interval 44 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000735/ScoringFiles/PGS000735.txt.gz
PGS000736 PRS_QRS PGP000144
Tadros R et al. Eur Heart J (2019)
QRS duration QRS duration 26 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000736/ScoringFiles/PGS000736.txt.gz
PGS000737 PRS_BrS PGP000144
Tadros R et al. Eur Heart J (2019)
Brugada syndrome Brugada syndrome 3 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000737/ScoringFiles/PGS000737.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 ID)
Evaluated Score PGS Sample Set ID
(PSS ID)
Performance Source Trait PGS Effect Sizes
(per SD change)
PGS Classification Metrics Other Metrics Covariates Included in the Model PGS Performance: Other Relevant Information
PPM001750 PGS000735
(PRS_PR)
PSS000906 PGP000144
Tadros R et al. Eur Heart J (2019)
Reported Trait: Baseline PR in non SCN5A mutation carriers Correlation coefficent (r): 0.23
PPM001751 PGS000736
(PRS_QRS)
PSS000906 PGP000144
Tadros R et al. Eur Heart J (2019)
Reported Trait: Baseline QRS in non SCN5A mutation carriers Correlation coefficent (r): 0.15
PPM001752 PGS000735
(PRS_PR)
PSS000906 PGP000144
Tadros R et al. Eur Heart J (2019)
Reported Trait: PR slope in non SCN5A mutation carriers β: 0.16 (0.08) Correlation coefficient (r): 0.09
PPM001753 PGS000736
(PRS_QRS)
PSS000906 PGP000144
Tadros R et al. Eur Heart J (2019)
Reported Trait: QRS slope in non SCN5A mutation carriers β: 0.93 (0.2) Correlation coefficient (r): 0.14
PPM001754 PGS000735
(PRS_PR)
PSS000904 PGP000144
Tadros R et al. Eur Heart J (2019)
Reported Trait: PR slope β: 0.22 (0.08)
PPM001755 PGS000736
(PRS_QRS)
PSS000904 PGP000144
Tadros R et al. Eur Heart J (2019)
Reported Trait: QRS slope β: 0.8 (0.22)
PPM001757 PGS000737
(PRS_BrS)
PSS000905 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 PGS000737
(PRS_BrS)
PSS000905 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
PPM001759 PGS000735
(PRS_PR)
PSS000905 PGP000144
Tadros R et al. Eur Heart J (2019)
Reported Trait: Ajmaline-induced Type I Brugada syndrome electrocardiogram OR: 1.017 [1.013, 1.022]
PPM001760 PGS000736
(PRS_QRS)
PSS000905 PGP000144
Tadros R et al. Eur Heart J (2019)
Reported Trait: Ajmaline-induced Type I Brugada syndrome electrocardiogram OR: 1.047 [1.031, 1.063]
PPM001756 PGS000736
(PRS_QRS)
PSS000903 PGP000144
Tadros R et al. Eur Heart J (2019)
Reported Trait: QRS slope β: 0.8 (0.22) Age, SCN5A mutation

Evaluated Samples

PGS Sample Set ID
(PSS ID)
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
PSS000903 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.14 295 individuals European Amsterdam
PSS000904 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.12 1,257 individuals European Amsterdam
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
PSS000906 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.13 1,193 individuals European Amsterdam