PGS Publication: PGP000146

Publication Information (EuropePMC)
Title Common genetic variants and modifiable risk factors underpin hypertrophic cardiomyopathy susceptibility and expressivity.
PubMed ID 33495597(Europe PMC)
doi 10.1038/s41588-020-00764-0
Publication Date Jan. 25, 2021
Journal Nat Genet
Author(s) Harper AR, Goel A, Grace C, Thomson KL, Petersen SE, Xu X, Waring A, Ormondroyd E, Kramer CM, Ho CY, Neubauer S, HCMR Investigators, Tadros R, Ware JS, Bezzina CR, Farrall M, Watkins H.
Released in PGS Catalog: Feb. 23, 2021

Associated Polygenic Score(s)

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Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
List of ancestries includes:
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Multi-ancestry (excluding European)
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Additional Asian Ancestries
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Greater Middle Eastern
Hispanic or Latin American
Additional Diverse Ancestries
Not Reported

PGS Developed By This Publication

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

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) 		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
PPM001765 PGS000739
(HCM_GRS)
 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 PGS000739
(HCM_GRS)
 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 PGS000739
(HCM_GRS)
 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) —

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
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 —
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 —