PGS Publication: PGP000260

Publication Information (EuropePMC)
Title Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility.
PubMed ID 35210625(Europe PMC)
doi 10.1038/s41588-021-01007-6
Publication Date Feb. 24, 2022
Journal Nat Genet
Author(s) Barc J, Tadros R, Glinge C, Chiang DY, Jouni M, Simonet F, Jurgens SJ, Baudic M, Nicastro M, Potet F, Offerhaus JA, Walsh R, Choi SH, Verkerk AO, Mizusawa Y, Anys S, Minois D, Arnaud M, Duchateau J, Wijeyeratne YD, Muir A, Papadakis M, Castelletti S, Torchio M, Ortuño CG, Lacunza J, Giachino DF, Cerrato N, Martins RP, Campuzano O, Van Dooren S, Thollet A, Kyndt F, Mazzanti A, Clémenty N, Bisson A, Corveleyn A, Stallmeyer B, Dittmann S, Saenen J, Noël A, Honarbakhsh S, Rudic B, Marzak H, Rowe MK, Federspiel C, Le Page S, Placide L, Milhem A, Barajas-Martinez H, Beckmann BM, Krapels IP, Steinfurt J, Winkel BG, Jabbari R, Shoemaker MB, Boukens BJ, Škorić-Milosavljević D, Bikker H, Manevy FC, Lichtner P, Ribasés M, Meitinger T, Müller-Nurasyid M, KORA-Study Group, Veldink JH, van den Berg LH, Van Damme P, Cusi D, Lanzani C, Rigade S, Charpentier E, Baron E, Bonnaud S, Lecointe S, Donnart A, Le Marec H, Chatel S, Karakachoff M, Bézieau S, London B, Tfelt-Hansen J, Roden D, Odening KE, Cerrone M, Chinitz LA, Volders PG, van de Berg MP, Laurent G, Faivre L, Antzelevitch C, Kääb S, Arnaout AA, Dupuis JM, Pasquie JL, Billon O, Roberts JD, Jesel L, Borggrefe M, Lambiase PD, Mansourati J, Loeys B, Leenhardt A, Guicheney P, Maury P, Schulze-Bahr E, Robyns T, Breckpot J, Babuty D, Priori SG, Napolitano C, Nantes Referral Center for inherited cardiac arrhythmia, de Asmundis C, Brugada P, Brugada R, Arbelo E, Brugada J, Mabo P, Behar N, Giustetto C, Molina MS, Gimeno JR, Hasdemir C, Schwartz PJ, Crotti L, McKeown PP, Sharma S, Behr ER, Haissaguerre M, Sacher F, Rooryck C, Tan HL, Remme CA, Postema PG, Delmar M, Ellinor PT, Lubitz SA, Gourraud JB, Tanck MW, George AL, MacRae CA, Burridge PW, Dina C, Probst V, Wilde AA, Schott JJ, Redon R, Bezzina CR.
Released in PGS Catalog: March 16, 2022

Associated Polygenic Score(s)

Filter PGS by Participant Ancestry
Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
List of ancestries includes:
Display options:
Ancestry legend
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

PGS Developed 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)
PGS001779
(BRSprs)
 PGP000260 |
Barc J et al. Nat Genet (2022)
 Brugada syndrome Brugada syndrome 21
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001779/ScoringFiles/PGS001779.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
PPM009271 PGS001779
(BRSprs)
 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 PGS001779
(BRSprs)
 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 PGS001779
(BRSprs)
 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 PGS001779
(BRSprs)
 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 PGS001779
(BRSprs)
 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 PGS001779
(BRSprs)
 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 PGS001779
(BRSprs)
 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 PGS001779
(BRSprs)
 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 PGS001779
(BRSprs)
 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 PGS001779
(BRSprs)
 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 —