Polygenic Score (PGS) ID: PGS000739

Predicted Trait
Reported Trait Hypertrophic cardiomyopathy
Mapped Trait(s) hypertrophic cardiomyopathy (EFO_0000538)
Released in PGS Catalog: Feb. 23, 2021
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Score Details

Score Construction
PGS Name HCM_GRS
Development Method
Name Genome-wide significant variants
Parameters p<5e-8, <5% FDR variants (p<1.56e-6)
Variants
Original Genome Build GRCh37
Number of Variants 27
Effect Weight Type beta
PGS Source
PGS Catalog Publication (PGP) ID PGP000146
Citation (link to publication) Harper AR et al. Nat Genet (2021)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 89.7%
South Asian: 3.7%
African: 3.1%
Not Reported: 2.1%
East Asian: 0.8%
Additional Diverse Ancestries: 0.6%
50,266 individuals (100%)
Score Development/Training
Multi-ancestry (including European): 100%
  • European
  • South Asian
  • African
  • East Asian
  • Additional Diverse Ancestries
  • Not Reported
47,737 individuals (100%)
PGS Evaluation
Multi-ancestry (including European): 60%
  • African
  • Additional Diverse Ancestries
  • East Asian
  • European
  • South Asian
  • Not Reported
European: 40%
5 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
Europe PMC: 33495597
[
  • 233 cases
  • , 1,331 controls
]
 African unspecified BRRD, HCMR, UKB
Europe PMC: 33495597
[
  • 122 cases
  • , 170 controls
]
 Other admixed ancestry BRRD, HCMR, UKB
Europe PMC: 33495597
[
  • 70 cases
  • , 333 controls
]
 East Asian BRRD, HCMR, UKB
Europe PMC: 33495597
[
  • 2,196 cases
  • , 42,902 controls
]
 European BRRD, HCMR, UKB
Europe PMC: 33495597
[
  • 138 cases
  • , 1,727 controls
]
 South Asian BRRD, HCMR, UKB
Europe PMC: 33495597
[
  • 21 cases
  • , 1,023 controls
]
 Not reported BRRD, HCMR, UKB
Score Development/Training
Study Identifiers Sample Numbers Sample Ancestry Cohort(s) Phenotype Definitions & Methods Age of Study Participants Participant Follow-up Time Additional Ancestry Description Additional Sample/Cohort Information
—
[
  • 2,774 cases
  • , 44,963 controls
]
 European, South Asian, African unspecified, East Asian, Other admixed ancestry, NR BRRD, HCMR Cases were individuals with hypertrophic cardiomyopathy. — — African Unspecified = 1223, Other admixed ancestry = 268, East Asian = 382, European = 44467, South Asian = 1382, Not reported = 14 —

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) 		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
PPM001765 PSS000909|
Multi-ancestry (including European)|
41,597 individuals
 PGP000146 |
Harper AR et al. Nat Genet (2021)
 Reported Trait: Hypertrophic cardiomyopathy OR: 1.73 [1.63, 1.83] — — Age, gender, PCs(1-10) —
PPM001767 PSS000910|
Multi-ancestry (including European)|
20,501 individuals
 PGP000146 |
Harper AR et al. Nat Genet (2021)
 Reported Trait: Hypertrophic cardiomyopathy carrying a pathogenic sarcomere mutation OR: 1.54 [1.39, 1.69] — — Age, gender, PCs(1-10) —
PPM001766 PSS000908|
Multi-ancestry (including European)|
21,095 individuals
 PGP000146 |
Harper AR et al. Nat Genet (2021)
 Reported Trait: Hypertrophic cardiomyopathy in individuals who do not carry a pathogenic sarcomere mutation OR: 1.8 [1.67, 1.93] — — Age, gender, PCs(1-10) —
PPM018527 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 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 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 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 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 —

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
PSS000908 Cases were individuals with hypertrophic cardiomyopathy. —
[
  • 17 cases
  • , 545 controls
]
 — African unspecified — GEL, RBH-CRB —
PSS000908 Cases were individuals with hypertrophic cardiomyopathy. —
[
  • 1 cases
  • , 39 controls
]
 — Other admixed ancestry Ad Mixed American GEL, RBH-CRB —
PSS000908 Cases were individuals with hypertrophic cardiomyopathy. —
[
  • 0 cases
  • , 126 controls
]
 — East Asian — GEL, RBH-CRB —
PSS000908 Cases were individuals with hypertrophic cardiomyopathy. —
[
  • 1,083 cases
  • , 16,072 controls
]
 — European — GEL, RBH-CRB —
PSS000908 Cases were individuals with hypertrophic cardiomyopathy. —
[
  • 53 cases
  • , 1,510 controls
]
 — South Asian — GEL, RBH-CRB —
PSS000908 Cases were individuals with hypertrophic cardiomyopathy. —
[
  • 26 cases
  • , 1,623 controls
]
 — Not reported — GEL, RBH-CRB —
PSS000909 Cases were individuals with hypertrophic cardiomyopathy. —
[
  • 17 cases
  • , 1,098 controls
]
 — African unspecified — GEL, RBH-CRB —
PSS000909 Cases were individuals with hypertrophic cardiomyopathy. —
[
  • 1 cases
  • , 88 controls
]
 — Other admixed ancestry Ad Mixed American GEL, RBH-CRB —
PSS000909 Cases were individuals with hypertrophic cardiomyopathy. —
[
  • 2 cases
  • , 265 controls
]
 — East Asian — GEL, RBH-CRB —
PSS000909 Cases were individuals with hypertrophic cardiomyopathy. In the individuals recruited from the Netherlands, this was identified using current diagnostic criteria(eft ventricular wall thickness ≥15mm or ≥13mm in presence of family history) —
[
  • 1,653 cases
  • , 32,170 controls
]
 — European — GEL, RBH-CRB —
PSS000909 Cases were individuals with hypertrophic Cardiomyopathy. —
[
  • 62 cases
  • , 2,974 controls
]
 — South Asian — GEL, RBH-CRB —
PSS000909 Cases were individuals with hypertrophic cardiomyopathy. —
[
  • 34 cases
  • , 3,233 controls
]
 — Not reported — GEL, RBH-CRB —
PSS000910 Cases were individuals with hypertrophic cardiomyopathy. —
[
  • 0 cases
  • , 559 controls
]
 — African unspecified — GEL, RBH-CRB —
PSS000910 Cases were individuals with hypertrophic cardiomyopathy. —
[
  • 0 cases
  • , 38 controls
]
 — Other admixed ancestry Ad Mixed American GEL, RBH-CRB —
PSS000910 Cases were individuals with hypertrophic cardiomyopathy. —
[
  • 2 cases
  • , 132 controls
]
 — East Asian — GEL, RBH-CRB —
PSS000910 Cases were individuals with hypertrophic cardiomyopathy. —
[
  • 569 cases
  • , 16,120 controls
]
 — European — GEL, RBH-CRB —
PSS000910 Cases were individuals with hypertrophic cardiomyopathy. —
[
  • 9 cases
  • , 1,441 controls
]
 — South Asian — GEL, RBH-CRB —
PSS000910 Cases were individuals with hypertrophic cardiomyopathy. —
[
  • 8 cases
  • , 1,623 controls
]
 — Not reported — GEL, RBH-CRB —
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 —