| 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. |
| 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 |
|
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 | — |
|
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 | — |