PGS Catalog - Jurgens SJ, Nat Genet (2024) (Publication)

PGS Publication: PGP000672

Publication Information (EuropePMC)
Title	Genome-wide association study reveals mechanisms underlying dilated cardiomyopathy and myocardial resilience.
PubMed ID	39572784(Europe PMC)
doi	10.1038/s41588-024-01975-5
Publication Date	Nov. 21, 2024
Journal	*Nat Genet*
Author(s)	Jurgens SJ, Rämö JT, Kramarenko DR, Wijdeveld LFJM, Haas J, Chaffin MD, Garnier S, Gaziano L, Weng LC, Lipov A, Zheng SL, Henry A, Huffman JE, Challa S, Rühle F, Verdugo CD, Krijger Juárez C, Kany S, van Orsouw CA, Biddinger K, Poel E, Elliott AL, Wang X, Francis C, Ruan R, Koyama S, Beekman L, Zimmerman DS, Deleuze JF, Villard E, Trégouët DA, Isnard R, FinnGen, VA Million Veteran Program, HERMES Consortium, Boomsma DI, de Geus EJC, Tadros R, Pinto YM, Wilde AAM, Hottenga JJ, Sinisalo J, Niiranen T, Walsh R, Schmidt AF, Choi SH, Chang KM, Tsao PS, Matthews PM, Ware JS, Lumbers RT, van der Crabben S, Laukkanen J, Palotie A, Amin AS, Charron P, Meder B, Ellinor PT, Daly M, Aragam KG, Bezzina CR.

Released in PGS Catalog: Dec. 16, 2024

Associated Polygenic Score(s)

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)
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
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
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
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
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
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
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)	—	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) AUC: 0.68 [0.66, 0.69] 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
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

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
PSS011780	Clinical criteria + imaging	—	7,761 individuals [ 783 cases , 6,978 controls ]	—	European (Dutch)	—	AUMC_DCM	—
PSS011781	ICD10 I42.0; excluding antecedent acute coronary disease and/or revascularization	—	96,016 individuals [ 506 cases , 95,510 controls ]	—	European, Not reported	Mostly European-American	AllofUs	—
PSS011782	ICD10 I42.0; excluding antecedent acute coronary disease and/or revascularization	—	326,106 individuals [ 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.