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]
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 23 mapped terms
  • DOID:12930
  • GARD:221
  • HP:0001644
  • ICD10CM:I42.0
  • ICD9:425.4
  • MEDGEN:2880
  • MESH:D002311
  • MONDO:0005021
  • MP:0002795
  • 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
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
PGS004946
(DCM_GWAS_exclMGBB)
 PGP000672 |
Jurgens SJ et al. Nat Genet (2024)
 Dilated cardiomyopathy dilated cardiomyopathy 1,098,677
-
 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 cardiomyopathy 1,072,247
-
 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 cardiomyopathy dilated cardiomyopathy 1,068,761
-
 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 cardiomyopathy 1,038,394
-
 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 cardiomyopathy dilated cardiomyopathy 1,098,677
-
 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 cardiomyopathy 1,075,760
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004951/ScoringFiles/PGS004951.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 R²: 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 R²: 0.05 age, age^2, sex, PC1-10 —
PPM021753 PGS004946
(DCM_GWAS_exclMGBB)
 PSS011781|
Multi-ancestry (including European)|
96,016 individuals
 PGP000672 |
Jurgens SJ et al. Nat Genet (2024)
 Reported Trait: Non-ischemic dilated cardiomyopathy OR: 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, PC1-12 beta represents log(OR) per SD of PRS
PPM021754 PGS004947
(DCM_MTAG_exclMGBB)
 PSS011781|
Multi-ancestry (including European)|
96,016 individuals
 PGP000672 |
Jurgens SJ et al. Nat Genet (2024)
 Reported Trait: Non-ischemic dilated cardiomyopathy OR: 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, PC1-12 beta represents log(OR) per SD of PRS
PPM021755 PGS004948
(DCM_GWAS_exclUKB)
 PSS011782|
Multi-ancestry (including European)|
326,106 individuals
 PGP000672 |
Jurgens SJ et al. Nat Genet (2024)
 Reported Trait: Non-ischemic dilated cardiomyopathy OR: 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, PC1-12 beta represents log(OR) per SD of PRS
PPM021756 PGS004949
(DCM_MTAG_exclUKB)
 PSS011782|
Multi-ancestry (including European)|
326,106 individuals
 PGP000672 |
Jurgens SJ et al. Nat Genet (2024)
 Reported Trait: Non-ischemic dilated cardiomyopathy OR: 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, PC1-12 beta represents log(OR) per SD of PRS
PPM021757 PGS004950
(DCM_GWAS_exclAUMC)
 PSS011780|
European Ancestry|
7,761 individuals
 PGP000672 |
Jurgens SJ et al. Nat Genet (2024)
 Reported Trait: Clinical dilated cardiomyopathy OR: 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, PC1-12 beta represents log(OR) per SD of PRS
PPM021758 PGS004951
(DCM_MTAG_exclAUMC)
 PSS011780|
European Ancestry|
7,761 individuals
 PGP000672 |
Jurgens SJ et al. Nat Genet (2024)
 Reported Trait: Clinical dilated cardiomyopathy OR: 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, PC1-12 beta represents log(OR) per SD of PRS

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 —
PSS011780 Clinical criteria + imaging —
[
  • 783 cases
  • , 6,978 controls
]
 — European
(Dutch)		 — AUMC_DCM —
PSS011781 ICD10 I42.0; excluding antecedent acute coronary disease and/or revascularization —
[
  • 506 cases
  • , 95,510 controls
]
 — European, Not reported Mostly European-American AllofUs —
PSS011782 ICD10 I42.0; excluding antecedent acute coronary disease and/or revascularization —
[
  • 793 cases
  • , 325,313 controls
]
 — European, Not reported — UKB Please note: UKB samples included in the first 45k MRI tranche were removed from this testing set, since the MTAG data includes GWAS data of cardiac MRI traits from the UKB.