| 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. | 
| 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) | 
|---|---|---|---|---|---|---|
| PGS000736 (PRS_QRS) | PGP000144 | Tadros R et al. Eur Heart J (2019) | QRS duration | QRS duration | 26 | - | https://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 | - | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000737/ScoringFiles/PGS000737.txt.gz | 
| PGS000735 (PRS_PR) | PGP000144 | Tadros R et al. Eur Heart J (2019) | PR interval | PR interval | 44 | - | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000735/ScoringFiles/PGS000735.txt.gz | 
| 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 | 
|---|---|---|---|---|---|---|---|---|---|
| PPM001757 | PGS000737 (PRS_BrS) | 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 | PGS000737 (PRS_BrS) | 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 | — | — | 
| PPM001759 | PGS000735 (PRS_PR) | 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: 1.017 [1.013, 1.022] | — | — | — | — | 
| PPM001760 | PGS000736 (PRS_QRS) | 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: 1.047 [1.031, 1.063] | — | — | — | — | 
| PPM001753 | PGS000736 (PRS_QRS) | PSS000906| European Ancestry| 1,193 individuals | 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| European Ancestry| 1,257 individuals | PGP000144 | Tadros R et al. Eur Heart J (2019) | Reported Trait: PR slope | β: 0.22 (0.08) | — | — | — | — | 
| PPM001750 | PGS000735 (PRS_PR) | PSS000906| European Ancestry| 1,193 individuals | 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| European Ancestry| 1,193 individuals | 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| European Ancestry| 1,193 individuals | 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 | — | — | 
| PPM001755 | PGS000736 (PRS_QRS) | PSS000904| European Ancestry| 1,257 individuals | PGP000144 | Tadros R et al. Eur Heart J (2019) | Reported Trait: QRS slope | β: 0.8 (0.22) | — | — | — | — | 
| PPM001756 | PGS000736 (PRS_QRS) | PSS000903| European Ancestry| 295 individuals | PGP000144 | Tadros R et al. Eur Heart J (2019) | Reported Trait: QRS slope | β: 0.8 (0.22) | — | — | Age, SCN5A mutation | — | 
| 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 | 
|---|---|---|---|---|---|---|---|---|
| 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 | — |