| Publication Information (EuropePMC) | |
| Title | Genome-wide association analysis provides insights into the molecular etiology of dilated cardiomyopathy. |
| PubMed ID | 39572783(Europe PMC) |
| doi | 10.1038/s41588-024-01952-y |
| Publication Date | Nov. 21, 2024 |
| Journal | Nat Genet |
| 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, Raja AA, Backman JD, Baksi J, Barton PJR, Biddinger KJ, Boersma E, Brandimarto J, Brunak S, Bundgaard H, Carey DJ, Charron P, Cook JP, Cook SA, Denaxas S, Deleuze JF, 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 HL, 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 CNA, Pantazis A, Pedersen OBV, Prasad SK, Shekhar A, Smelser DT, Srinivasan S, Stefansson K, Sveinbjörnsson G, Syrris P, Tammesoo ML, Tayal U, Teder-Laving M, Thorgeirsson G, Thorsteinsdottir U, Tragante V, Trégouët DA, Treibel TA, Ullum H, Valdes AM, van Setten J, van Vugt M, Veluchamy A, Verschuren WMM, Villard E, Yang Y, COVIDsortium, DBDS Genomic Consortium, Estonian Biobank Research Team, HERMES Consortium, Asselbergs FW, Cappola TP, Dube MP, 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. |
| 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) |
|---|---|---|---|---|---|---|
| PGS004862 (hermes.mtag) |
PGP000608 | Zheng SL et al. Nat Genet (2024) |
Dilated cardiomyopathy (MTAG) | dilated cardiomyopathy | 709,534 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004862/ScoringFiles/PGS004862.txt.gz |
| PGS004861 (hermes.gwama) |
PGP000608 | Zheng SL et al. Nat Genet (2024) |
Dilated cardiomyopathy | dilated cardiomyopathy | 713,932 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004861/ScoringFiles/PGS004861.txt.gz |
|
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. Nat Genet (2024) |
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. Nat Genet (2024) |
Reported Trait: Dilated cardiomyopathy | OR: 1.76 | AUROC: 0.71 | R²: 0.05 | age, age^2, sex, PC1-10 | — |
|
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 | — | — | [ ,
45.8 % Male samples |
Mean = 69.8 years | European | — | UKB | — |