PGS Publication: PGP000126

Publication Information (EuropePMC)
Title Analysis of cardiac magnetic resonance imaging in 36,000 individuals yields genetic insights into dilated cardiomyopathy.
PubMed ID 32382064(Europe PMC)
doi 10.1038/s41467-020-15823-7
Publication Date May 7, 2020
Journal Nat Commun
Author(s) Pirruccello JP, Bick A, Wang M, Chaffin M, Friedman S, Yao J, Guo X, Venkatesh BA, Taylor KD, Post WS, Rich S, Lima JAC, Rotter JI, Philippakis A, Lubitz SA, Ellinor PT, Khera AV, Kathiresan S, Aragam KG.
Released in PGS Catalog: Jan. 7, 2021

Associated Polygenic Score(s)

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Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
List of ancestries includes:
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Multi-ancestry (including European)
Multi-ancestry (excluding European)
African
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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)
PGS000666
(PGS_LVESVi)
PGP000126 |
Pirruccello JP et al. Nat Commun (2020)
Body surface area-indexed left ventricular end-systolic volume left ventricular systolic function measurement 28
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000666/ScoringFiles/PGS000666.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
PPM001376 PGS000666
(PGS_LVESVi)
PSS000603|
Ancestry Not Reported|
449,027 individuals
PGP000126 |
Pirruccello JP et al. Nat Commun (2020)
Reported Trait: Nonischemic dilated cardiomyopathy OR: 1.51 age at enrollment, genotyping array, PCs(1-5) of ancestry.
PPM001377 PGS000666
(PGS_LVESVi)
PSS000604|
Multi-ancestry (including European)|
362,922 individuals
PGP000126 |
Pirruccello JP et al. Nat Commun (2020)
Reported Trait: Incident nonischemic dilated cardiomyopathy HR: 1.58 [1.43, 1.76] cubic basis spline of age at enrollment, sex, genotyping array, PCs(1-5) of ancestry.

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
PSS000603 Hospitalization for or death due to ICD-10 code for dilated cardiomyopathy (I42.0); excluding individuals with history of coronary artery disease (as defined below), or history of hypertrophic cardiomyopathy during verbal interview with trained nurse, or hospitalization for or death due to ICD-10 code for hypertrophic cardiomyopathy (I42.1, I42.2)
[
  • 923 cases
  • , 448,104 controls
]
NR UKB
PSS000604 Incident DCM: Hospitalization for or death due to ICD-10 code for dilated cardiomyopathy (I42.0); excluding individuals with history of coronary artery disease (as defined below), or history of hypertrophic cardiomyopathy during verbal interview with trained nurse, or hospitalization for or death due to ICD-10 code for hypertrophic cardiomyopathy (I42.1, I42.2).In participants who had not undergone cardiac MRI, were free from CHF, DCM, and CAD at baseline, and who were not identified by the UK Biobank as having third-degree or closer relatedness to another participant.
[
  • 380 cases
  • , 362,542 controls
]
,
45.0 % Male samples
Mean = 57.0 years
Sd = 8.1 years
European, South Asian, African unspecified, East Asian, NR African unspecified = 2937, East Asain = 1303, European = 348778, NR = 3670, South Asian =6234 UKB