Trait: dilated cardiomyopathy

Experimental Factor Ontology (EFO) Information
Identifier EFO_0000407
Description Cardiomyopathy which is characterized by dilation and contractile dysfunction of the left and right ... ventricles. It may be idiopathic, or it may result from a myocardial infarction, myocardial infection, or alcohol abuse. It is a cause of congestive heart failure. [NCIT: P378]Show more
Trait category
Cardiovascular disease
Synonyms 29 synonyms
  • CCM - Congestive cardiomyopathy
  • COCM - Congestive cardiomyopathy
  • Cardiomyopathies, Congestive
  • Cardiomyopathies, Dilated
  • Cardiomyopathies, Familial Idiopathic
  • Cardiomyopathy, Congestive
  • Cardiomyopathy, Dilated
  • Cardiomyopathy, Dilated, CMD1A
  • Cardiomyopathy, Dilated, LMNA
  • Cardiomyopathy, Dilated, with Conduction Deffect1
  • Cardiomyopathy, Familial Idiopathic
  • Congestive Cardiomyopathies
  • Congestive cardiomyopathy
  • Congestive cardiomyopathy (disorder)
  • Congestive dilated cardiomyopathy
  • DCM
  • DCM - Dilated cardiomyopathy
  • Dilated Cardiomyopathies
  • Familial Idiopathic Cardiomyopathies
  • Familial Idiopathic Cardiomyopathy
  • Idiopathic Cardiomyopathies, Familial
  • Idiopathic Cardiomyopathy, Familial
  • Primary dilated cardiomyopathy
  • congestive cardiomyopathy
  • dilated cardiomyopathy
  • familial dilated cardiomyopathy
  • idiopathic dilation cardiomyopathy
  • primary dilated cardiomyopathy
  • primary dilated cardiomyopathy (disorder)
Mapped terms 24 mapped terms
  • DOID:12930
  • GARD:221
  • HP:0001644
  • ICD10CM:I42.0
  • ICD9:425.4
  • MEDGEN:2880
  • MESH:D002311
  • MONDO:0005021
  • MP:0002795
  • MeSH:D002311
  • MedDRA:10056370
  • MedDRA:10056419
  • NANDO:2100057
  • NANDO:2200232
  • NCIT:C84673
  • NCIt:C84673
  • OMIM:115200
  • OMIM:615916
  • OMIM:618189
  • Orphanet:217604
  • SCTID:195021004
  • SNOMEDCT:399020009
  • UMLS:C0007193
  • icd11.foundation:1916294688

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
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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 cardiomyopathydilated cardiomyopathy713,932
G
-
E
 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 cardiomyopathy709,534
G
-
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004862/ScoringFiles/PGS004862.txt.gz
PGS004946
(DCM_GWAS_exclMGBB)
PGP000672 |
Jurgens SJ et al. Nat Genet (2024)
Dilated cardiomyopathydilated cardiomyopathy1,098,677
G
-
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004946/ScoringFiles/PGS004946.txt.gz
PGS004947
(DCM_MTAG_exclMGBB)
PGP000672 |
Jurgens SJ et al. Nat Genet (2024)
Dilated cardiomyopathy (MTAG)dilated cardiomyopathy1,072,247
G
-
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004947/ScoringFiles/PGS004947.txt.gz
PGS004948
(DCM_GWAS_exclUKB)
PGP000672 |
Jurgens SJ et al. Nat Genet (2024)
Dilated cardiomyopathydilated cardiomyopathy1,068,761
G
-
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004948/ScoringFiles/PGS004948.txt.gz
PGS004949
(DCM_MTAG_exclUKB)
PGP000672 |
Jurgens SJ et al. Nat Genet (2024)
Dilated cardiomyopathy (MTAG)dilated cardiomyopathy1,038,394
G
-
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004949/ScoringFiles/PGS004949.txt.gz
PGS004950
(DCM_GWAS_exclAUMC)
PGP000672 |
Jurgens SJ et al. Nat Genet (2024)
Dilated cardiomyopathydilated cardiomyopathy1,098,677
G
-
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004950/ScoringFiles/PGS004950.txt.gz
PGS004951
(DCM_MTAG_exclAUMC)
PGP000672 |
Jurgens SJ et al. Nat Genet (2024)
Dilated cardiomyopathy (MTAG)dilated cardiomyopathy1,075,760
G
-
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004951/ScoringFiles/PGS004951.txt.gz
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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.

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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
PPM021092PGS004861
(hermes.gwama)
PSS011521|
European Ancestry|
347,585 individuals
PGP000608 |
Zheng SL et al. medRxiv (2023)
|Pre		Reported Trait: Dilated cardiomyopathyOR: 1.56AUROC: 0.7R²: 0.048age, age^2, sex, PC1-10—
PPM021093PGS004862
(hermes.mtag)
PSS011521|
European Ancestry|
347,585 individuals
PGP000608 |
Zheng SL et al. medRxiv (2023)
|Pre		Reported Trait: Dilated cardiomyopathyOR: 1.76AUROC: 0.71R²: 0.05age, age^2, sex, PC1-10—
PPM021753PGS004946
(DCM_GWAS_exclMGBB)
PSS011781|
Multi-ancestry (including European)|
96,016 individuals
PGP000672 |
Jurgens SJ et al. Nat Genet (2024)
Reported Trait: Non-ischemic dilated cardiomyopathyOR: 1.65762
β: 0.5 (0.04)		—Univariate (PRS only) AUPRC: 0.0095
Nagelkerke pseudo-R^2 full model: 0.064
Nagelkerke pseudo-R^2 delta PRS/residual: 0.023
Liability-scale R^2 (assuming 0.4% prev) full model: 0.227
Liability-scale R^2 (assuming 0.4% prev) delta PRS/residual: 0.066
Univariate (PRS only) AUC: 0.65 [0.62, 0.67]		Age, age^2, sex, PC1-12beta represents log(OR) per SD of PRS
PPM021754PGS004947
(DCM_MTAG_exclMGBB)
PSS011781|
Multi-ancestry (including European)|
96,016 individuals
PGP000672 |
Jurgens SJ et al. Nat Genet (2024)
Reported Trait: Non-ischemic dilated cardiomyopathyOR: 1.73
β: 0.55 (0.04)		—Nagelkerke pseudo-R^2 full model: 0.068
Nagelkerke pseudo-R^2 delta PRS/residual: 0.028
Liability-scale R^2 (assuming 0.4% prev) full model: 0.235
Liability-scale R^2 (assuming 0.4% prev) delta PRS/residual: 0.076
Univariate (PRS only) AUC: 0.66 [0.63, 0.68]
Univariate (PRS only) AUPRC: 0.0109		Age, age^2, sex, PC1-12beta represents log(OR) per SD of PRS
PPM021755PGS004948
(DCM_GWAS_exclUKB)
PSS011782|
Multi-ancestry (including European)|
326,106 individuals
PGP000672 |
Jurgens SJ et al. Nat Genet (2024)
Reported Trait: Non-ischemic dilated cardiomyopathyOR: 1.64
β: 0.49 (0.04)		—Nagelkerke pseudo-R^2 full model: 0.049
Nagelkerke pseudo-R^2 delta PRS/residual: 0.018
Liability-scale R^2 (assuming 0.4% prev) full model: 0.186
Liability-scale R^2 (assuming 0.4% prev) delta PRS/residual: 0.06
Univariate (PRS only) AUC: 0.64 [0.62, 0.66]
Univariate (PRS only) AUPRC: 0.0042		Age, age^2, sex, array, PC1-12beta represents log(OR) per SD of PRS
PPM021756PGS004949
(DCM_MTAG_exclUKB)
PSS011782|
Multi-ancestry (including European)|
326,106 individuals
PGP000672 |
Jurgens SJ et al. Nat Genet (2024)
Reported Trait: Non-ischemic dilated cardiomyopathyOR: 1.91
β: 0.65 (0.04)		—Univariate (PRS only) AUC: 0.68 [0.66, 0.69]
Nagelkerke pseudo-R^2 full model: 0.06
Nagelkerke pseudo-R^2 delta PRS/residual: 0.029
Liability-scale R^2 (assuming 0.4% prev) full model: 0.216
Liability-scale R^2 (assuming 0.4% prev) delta PRS/residual: 0.095
Univariate (PRS only) AUPRC: 0.0052		Age, age^2, sex, array, PC1-12beta represents log(OR) per SD of PRS
PPM021757PGS004950
(DCM_GWAS_exclAUMC)
PSS011780|
European Ancestry|
7,761 individuals
PGP000672 |
Jurgens SJ et al. Nat Genet (2024)
Reported Trait: Clinical dilated cardiomyopathyOR: 1.71
β: 0.54 (0.04)		—Nagelkerke pseudo-R^2 full model: 0.101
Nagelkerke pseudo-R^2 delta PRS/residual: 0.052
Liability-scale R^2 (assuming 0.4% prev) full model: 0.13
Liability-scale R^2 (assuming 0.4% prev) delta PRS/residual: 0.073
Univariate (PRS only) AUC: 0.64 [0.62, 0.66]
Univariate (PRS only) AUPRC: 0.1765		Sex, PC1-12beta represents log(OR) per SD of PRS
PPM021758PGS004951
(DCM_MTAG_exclAUMC)
PSS011780|
European Ancestry|
7,761 individuals
PGP000672 |
Jurgens SJ et al. Nat Genet (2024)
Reported Trait: Clinical dilated cardiomyopathyOR: 1.93
β: 0.66 (0.04)		—Nagelkerke pseudo-R^2 full model: 0.124
Nagelkerke pseudo-R^2 delta PRS/residual: 0.076
Liability-scale R^2 (assuming 0.4% prev) full model: 0.162
Liability-scale R^2 (assuming 0.4% prev) delta PRS/residual: 0.101
Univariate (PRS only) AUC: 0.67 [0.65, 0.69]
Univariate (PRS only) AUPRC: 0.2023		Sex, PC1-12beta represents log(OR) per SD of PRS
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Evaluated Samples

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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 yearsEuropean—UKB—
PSS011780Clinical criteria + imaging—
[
  • 783 cases
  • , 6,978 controls
]
—European
(Dutch)		—AUMC_DCM—
PSS011781ICD10 I42.0; excluding antecedent acute coronary disease and/or revascularization—
[
  • 506 cases
  • , 95,510 controls
]
—European, Not reportedMostly European-AmericanAllofUs—
PSS011782ICD10 I42.0; excluding antecedent acute coronary disease and/or revascularization—
[
  • 793 cases
  • , 325,313 controls
]
—European, Not reported—UKBPlease note: UKB samples included in the first 45k MRI tranche were removed from this testing set, s... ince the MTAG data includes GWAS data of cardiac MRI traits from the UKB.Show more
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