PGS Publication: PGP000304

Publication Information (EuropePMC)
Title Monogenic and Polygenic Contributions to QTc Prolongation in the Population.
PubMed ID 35389749(Europe PMC)
doi 10.1161/circulationaha.121.057261
Publication Date April 7, 2022
Journal Circulation
Author(s) Nauffal V, Morrill VN, Jurgens SJ, Choi SH, Hall AW, Weng LC, Halford JL, Austin-Tse C, Haggerty CM, Harris SL, Wong EK, Alonso A, Arking DE, Benjamin EJ, Boerwinkle E, Min YI, Correa A, Fornwalt BK, Heckbert SR, Kooperberg C, Lin HJ, Loos RJF, Rice KM, Gupta N, Blackwell TW, Mitchell BD, Morrison AC, Psaty BM, Post WS, Redline S, Rehm HL, Rich SS, Rotter JI, Soliman EZ, Sotoodehnia N, Lunetta KL, Ellinor PT, Lubitz SA.
Released in PGS Catalog: April 13, 2022

Associated Polygenic Score(s)

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G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
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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 Scoring File (FTP Link)
PGP000304 |
Nauffal V et al. Circulation (2022)
QTc duration QT interval 1,110,494

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
Performance Source Trait PGS Effect Sizes
(per SD change)
Classification Metrics Other Metrics Covariates Included in the Model PGS Performance:
Other Relevant Information
PPM012946 PGS002276
Multi-ancestry (including European)|
26,976 individuals
PGP000304 |
Nauffal V et al. Circulation (2022)
Reported Trait: QTc : 0.087 age, sex, beta blocker use, calcium channel blocker use, heart failure, myocardial infarction, first 12 principal components of genetic ancestry (PC1-12) PRS performance was overall similar across the individual genetic ancestries in TOPMed. (European R²: 0.074; African R²:0.077, Admixed American R²:0.148; Amish R²:0.197; Asian R²:0.245; Undetermined Genetic Ancestry R²:0.106)

Evaluated Samples

PGS Sample Set 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
PSS009628 Bazzet formula QT-corrected interval calculated from automated QT interval obtained from 12-lead electrocardiograms in TOPMed 26,976 individuals,
65.4 % Male samples
Mean = 59.8 years
Sd = 12.5 years
European, African unspecified, Asian unspecified, Other admixed ancestry, Not reported Combined analysis of European (59.6%), African (18.1%), Asian (2.9%), Admixed American (2.2%), Amish (3.7%) and Undetermined (13.5%) genetic ancestries 9 cohorts
  • ARIC
  • ,BioMe
  • ,CFS
  • ,CHS
  • ,FHS
  • ,JHS
  • ,MESA
  • ,OOA
  • ,WHI