| Publication Information (EuropePMC) | |
| Title | Analysis of cardiac magnetic resonance imaging in 36,000 individuals yields genetic insights into dilated cardiomyopathy. |
| PubMed ID | 32382064(Europe PMC) |
| doi | 10.1038/s41467-020-15823-7 |
| Publication Date | May 7, 2020 |
| Journal | Nat Commun |
| Author(s) | Pirruccello JP, Bick A, Wang M, Chaffin M, Friedman S, Yao J, Guo X, Venkatesh BA, Taylor KD, Post WS, Rich S, Lima JAC, Rotter JI, Philippakis A, Lubitz SA, Ellinor PT, Khera AV, Kathiresan S, Aragam KG. |
| 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) |
|---|---|---|---|---|---|---|
| PGS000666 (PGS_LVESVi) |
PGP000126 | Pirruccello JP et al. Nat Commun (2020) |
Body surface area-indexed left ventricular end-systolic volume | left ventricular systolic function measurement | 28 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000666/ScoringFiles/PGS000666.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 |
|---|---|---|---|---|---|---|---|---|---|
| PPM001376 | PGS000666 (PGS_LVESVi) |
PSS000603| Ancestry Not Reported| 449,027 individuals |
PGP000126 | Pirruccello JP et al. Nat Commun (2020) |
Reported Trait: Nonischemic dilated cardiomyopathy | OR: 1.51 | — | — | age at enrollment, genotyping array, PCs(1-5) of ancestry. | — |
| PPM001377 | PGS000666 (PGS_LVESVi) |
PSS000604| Multi-ancestry (including European)| 362,922 individuals |
PGP000126 | Pirruccello JP et al. Nat Commun (2020) |
Reported Trait: Incident nonischemic dilated cardiomyopathy | HR: 1.58 [1.43, 1.76] | — | — | cubic basis spline of age at enrollment, sex, genotyping array, PCs(1-5) of ancestry. | — |
|
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 |
|---|---|---|---|---|---|---|---|---|
| PSS000603 | Hospitalization for or death due to ICD-10 code for dilated cardiomyopathy (I42.0); excluding individuals with history of coronary artery disease (as defined below), or history of hypertrophic cardiomyopathy during verbal interview with trained nurse, or hospitalization for or death due to ICD-10 code for hypertrophic cardiomyopathy (I42.1, I42.2) | — | [
|
— | NR | — | UKB | — |
| PSS000604 | Incident DCM: Hospitalization for or death due to ICD-10 code for dilated cardiomyopathy (I42.0); excluding individuals with history of coronary artery disease (as defined below), or history of hypertrophic cardiomyopathy during verbal interview with trained nurse, or hospitalization for or death due to ICD-10 code for hypertrophic cardiomyopathy (I42.1, I42.2).In participants who had not undergone cardiac MRI, were free from CHF, DCM, and CAD at baseline, and who were not identified by the UK Biobank as having third-degree or closer relatedness to another participant. | — | [ ,
45.0 % Male samples |
Mean = 57.0 years Sd = 8.1 years |
European, South Asian, African unspecified, East Asian, NR | African unspecified = 2937, East Asain = 1303, European = 348778, NR = 3670, South Asian =6234 | UKB | — |