PGS Preprint: PGP000608

Publication Information (EuropePMC)
Title Genome-wide association analysis reveals insights into the molecular etiology underlying dilated cardiomyopathy
doi 10.1101/2023.09.28.23295408
Publication Date Sept. 29, 2023
Journal medRxiv Preprint
Author(s) Zheng SL, Henry A, Cannie D, Lee M, Miller D, McGurk KA, Bond I, Xu X, Issa H, Francis C, De Marvao A, Theotokis PI, Buchan RJ, Speed D, Abner E, Adams L, Aragam KG, Ärnlöv J, Axelsson Raja A, Backman JD, Baksi J, Barton PJ, Biddinger KJ, Boersma E, Brandimarto J, Brunak S, Brundgaard H, Carey DJ, Charron P, Cook JP, Cook SA, Denaxas S, Deleuze J, Doney AS, Elliott P, Erikstrup C, Esko T, Farber-Eger EH, Finan C, Garnier S, Ghouse J, Giedraitis V, Guðbjartsson DF, Haggerty CM, Halliday BP, Helgadottir A, Hemingway H, Hillege H, Kardys I, Lind L, Lindgren CM, Lowery BD, Manisty C, Margulies KB, Moon JC, Mordi IR, Morley MP, Morris AD, Morris AP, Morton L, Noursadeghi M, Ostrowski SR, Owens AT, Palmer CN, Pantazis A, Pedersen OB, Prasad SK, Shekhar A, Smelser DT, Srinivasan S, Stefansson K, Sveinbjörnsson G, Syrris P, Tammesoo M, Tayal U, Teder-Laving M, Thorgeirsson G, Thorsteinsdottir U, Tragante V, Trégouët D, Treibel TA, Ullum H, Valdes AM, van Setten J, van Vugt M, Veluchamy A, Verschuuren W, Villard E, Yang Y, Asselbergs FW, Cappola TP, Dube M, Dunn ME, Ellinor PT, Hingorani AD, Lang CC, Samani NJ, Shah SH, Smith JG, Vasan RS, O'Regan DP, Holm H, Noseda M, Wells Q, Ware JS, Lumbers RT, COVIDsortium, DBDS Genomic Consortium, Genomics England Research Consortium, HERMES Consortium.
Released in PGS Catalog: April 18, 2024

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:
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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)
PGS004861
(hermes.gwama)
PGP000608 |
Zheng SL et al. medRxiv (2023)
|Pre
Dilated cardiomyopathy dilated cardiomyopathy 713,932
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004861/ScoringFiles/PGS004861.txt.gz
PGS004862
(hermes.mtag)
PGP000608 |
Zheng SL et al. medRxiv (2023)
|Pre
Dilated cardiomyopathy (MTAG) dilated cardiomyopathy 709,534
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004862/ScoringFiles/PGS004862.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
PPM021092 PGS004861
(hermes.gwama)
PSS011521|
European Ancestry|
347,585 individuals
PGP000608 |
Zheng SL et al. medRxiv (2023)
|Pre
Reported Trait: Dilated cardiomyopathy OR: 1.56 AUROC: 0.7 : 0.048 age, age^2, sex, PC1-10
PPM021093 PGS004862
(hermes.mtag)
PSS011521|
European Ancestry|
347,585 individuals
PGP000608 |
Zheng SL et al. medRxiv (2023)
|Pre
Reported Trait: Dilated cardiomyopathy OR: 1.76 AUROC: 0.71 : 0.05 age, age^2, sex, PC1-10

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
PSS011521
[
  • 755 cases
  • , 346,830 controls
]
,
45.8 % Male samples
Mean = 69.8 years European UKB