| Publication Information (EuropePMC) | |
| Title | Rare and Common Genetic Variation Underlying the Risk of Hypertrophic Cardiomyopathy in a National Biobank. |
| PubMed ID | 35583889(Europe PMC) |
| doi | 10.1001/jamacardio.2022.1061 |
| Publication Date | July 1, 2022 |
| Journal | JAMA Cardiol |
| Author(s) | Biddinger KJ, Jurgens SJ, Maamari D, Gaziano L, Choi SH, Morrill VN, Halford JL, Khera AV, Lubitz SA, Ellinor PT, 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) |
|---|---|---|---|---|---|---|
| PGS000739 (HCM_GRS) |
PGP000146 | Harper AR et al. Nat Genet (2021) |
Hypertrophic cardiomyopathy | hypertrophic cardiomyopathy | 27 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000739/ScoringFiles/PGS000739.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 |
|---|---|---|---|---|---|---|---|---|---|
| PPM018527 | PGS000739 (HCM_GRS) |
PSS011008| European Ancestry| 184,511 individuals |
PGP000476 | Biddinger KJ et al. JAMA Cardiol (2022) |Ext. |
Reported Trait: Hypertrophic cardiomyopathy | OR: 1.556 [1.361, 1.778] | — | — | — | — |
| PPM018528 | PGS000739 (HCM_GRS) |
PSS011008| European Ancestry| 184,511 individuals |
PGP000476 | Biddinger KJ et al. JAMA Cardiol (2022) |Ext. |
Reported Trait: Hypertrophic cardiomyopathy in noncarriers of an HCM-ACMG rare variant | OR: 1.585 [1.375, 1.828] | — | — | — | — |
| PPM018529 | PGS000739 (HCM_GRS) |
PSS011007| European Ancestry| 30,716 individuals |
PGP000476 | Biddinger KJ et al. JAMA Cardiol (2022) |Ext. |
Reported Trait: Hypertrophic cardiomyopathy | OR: 1.35 [1.21, 1.51] | — | — | — | — |
| PPM018530 | PGS000739 (HCM_GRS) |
PSS011008| European Ancestry| 184,511 individuals |
PGP000476 | Biddinger KJ et al. JAMA Cardiol (2022) |Ext. |
Reported Trait: Hypertrophic cardiomyopathy | HR: 1.795 [1.521, 2.117] | AUROC: 0.725 [0.678, 0.771] | — | Age, sex, genotyping array, and PCs 1-5 | — |
| PPM018531 | PGS000739 (HCM_GRS) |
PSS011008| European Ancestry| 184,511 individuals |
PGP000476 | Biddinger KJ et al. JAMA Cardiol (2022) |Ext. |
Reported Trait: Hypertrophic cardiomyopathy | — | AUROC: 0.821 [0.772, 0.871] | — | Clinical risk factors (obesity, HTN, AF, CAD), HCM-ACMG rare variant carrier status, age, sex, genotyping array, and PCs 1-5 | — |
|
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 |
|---|---|---|---|---|---|---|---|---|
| PSS011007 | HCM was defined as having an ICD-10 code of I42.1 or I42.2, in addition to a mention of “hypertrophic cardiomyopathy,” “hypertrophic obstructive cardiomyopathy,” “HCM,” or “HOCM” | — | 30,716 individuals, 45.37 % Male samples |
Mean = 57.23 years | European | — | MGBB | — |
| PSS011008 | HCM cases were identified by the presence of International Statistical Classification of Diseases and Related Health Problems, Tenth Revision (ICD-10), billing code I42.1 (hypertrophic obstructive cardiomyopathy) or I42.2 (other hypertrophic cardiomyopathy) | — | 184,511 individuals, 45.35 % Male samples |
Mean = 56.51 years | European | — | UKB | — |