Polygenic Score (PGS) ID: PGS000778

Predicted Trait
Reported Trait Hypertrophic cardiomyopathy
Mapped Trait(s) hypertrophic cardiomyopathy (EFO_0000538)
Released in PGS Catalog: May 28, 2021
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PGS obtained from the Catalog should be cited appropriately, and used in accordance with any licensing restrictions set by the authors. See EBI Terms of Use (https://www.ebi.ac.uk/about/terms-of-use/) for additional details.

Score Details

Score Construction
PGS Name PRSHCM
Development Method
Name Genome-wide significant variants
Parameters P<5e-8
Variants
Original Genome Build GRCh37
Number of Variants 20
Effect Weight Type beta
PGS Source
PGS Catalog Publication (PGP) ID PGP000182
Citation (link to publication) Tadros R et al. Nat Genet (2021)
Ancestry Distribution
Source of Variant
Associations (GWAS)
Multi-ancestry (including European): 100%
  • European
  • Not Reported
8,361 individuals (100%)
PGS Evaluation
Not Reported: 100%
6 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
Europe PMC: 33495596
[
  • 1,733 cases
  • , 6,628 controls
]
,
62.52 % Male samples
 European, NR 7 cohorts
  • ERSPC
  • ,LHSC
  • ,MHI
  • ,NL4
  • ,RBH-CRB
  • ,UKDHP
  • ,UMCG

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
PPM002016 PSS000999|
Ancestry Not Reported|
368 individuals
 PGP000182 |
Tadros R et al. Nat Genet (2021)
 Reported Trait: Clinical events in individuals with a pathogenic or likely pathogenic sarcomeric variant HR: 1.28 [1.06, 1.54]
β: 0.247 (0.095)		 — — Genetic relatedness matrix, sex Clinical events includes time to septal reduction therapy, cardiac transplantation, sustained ventricular arrhythmia, sudden cardiac death, appropriate ICD therapy or atrial fibrillation/flutter.
PPM002017 PSS001000|
Ancestry Not Reported|
368 individuals
 PGP000182 |
Tadros R et al. Nat Genet (2021)
 Reported Trait: Major clinical events in individuals with a pathogenic or likely pathogenic sarcomeric variant HR: 1.29 [1.04, 1.59]
β: 0.255 (0.108)		 — — Genetic relatedness matrix, sex Major clinical events includes time to septal reduction therapy, cardiac transplantation, sustained ventricular arrhythmia, sudden cardiac death or appropriate ICD therapy.
PPM002018 PSS001004|
Ancestry Not Reported|
368 individuals
 PGP000182 |
Tadros R et al. Nat Genet (2021)
 Reported Trait: Septal reduction therapy in individuals with a pathogenic or likely pathogenic sarcomeric variant HR: 1.36 [1.06, 1.74]
β: 0.304 (0.127)		 — — Genetic relatedness matrix, sex Septal reduction therapy includes time time to septal myectomy or alcohol septal ablation.
PPM002020 PSS001003|
Ancestry Not Reported|
194 individuals
 PGP000182 |
Tadros R et al. Nat Genet (2021)
 Reported Trait: Maximal left ventricular wall thickness indexed to body surface area (mm/m^2) in individuals with a pathogenic or likely pathogenic sarcomeric variant β: 0.731 (0.238) — — Genetic relatedness matrix Each standard deviation increase in the polgyenic risk score is associated with 0.7 mm m^-2 increase in maximal left ventricular wall thickness.
PPM002021 PSS001002|
Ancestry Not Reported|
214 individuals
 PGP000182 |
Tadros R et al. Nat Genet (2021)
 Reported Trait: Clinical events in in individuals with a pathogenic or likely pathogenic sarcomeric variant HR: 1.53 [1.05, 2.22]
β: 0.422 (0.193)		 — — Genetic relatedness matrix, sex Clinical events includes time to septal reduction therapy, cardiac transplantation, sustained ventricular arrhythmia, sudden cardiac death, appropriate ICD therapy or atrial fibrillation/flutter.
PPM002015 PSS001001|
Ancestry Not Reported|
322 individuals
 PGP000182 |
Tadros R et al. Nat Genet (2021)
 Reported Trait: Maximal left ventricular wall thickness indexed to body surface area (mm/m^2) in individuals with a pathogenic or likely pathogenic sarcomeric variant β: 0.726 (0.188) — — Genetic relatedness matrix Each standard deviation increase in the polgyenic risk score is associated with 0.7 mm m^-2 increase in maximal left ventricular wall thickness.

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
PSS000999 All individuals were carriers of a pathogenic or likely pathogenic variant (MYBPC3 truncating variant, MYBPC3 non-truncating variant, MYH7 variant, MYL2 variant, other genetic variant). Cases included individuals who had experienced a clinical event, defined as: time to septal reduction therapy, cardiac transplantation, sustained ventricular arrhythmia, sudden cardiac death, appropriate ICD therapy or atrial fibrillation/flutter. —
[
  • 122 cases
  • , 246 controls
]
 — Not reported — ERSPC —
PSS001000 All individuals were carriers of a pathogenic or likely pathogenic variant (MYBPC3 truncating variant, MYBPC3 non-truncating variant, MYH7 variant, MYL2 variant, other genetic variant). Cases included individuals who had experienced a major ventricular arrhythmia, defined as: time to sustained ventricular arrhythmia, appropriate ICD therapy or sudden cardiac death. —
[
  • 30 cases
  • , 338 controls
]
 — Not reported — ERSPC —
PSS001001 All individuals were carriers of a pathogenic or likely pathogenic variant (MYBPC3 truncating variant, MYBPC3 non-truncating variant, MYH7 variant, MYL2 variant, other genetic variant). The primary outcome of maximal left ventricular wall thickness is defined as maxLVWT indexed to body surface area (BSA) on last available CMR or TTE prior to septal reduction therapy and cardiac transplantation. LVWT from CMR used whenever available unless TTE performed more than 5 years after last CMR. — 322 individuals — Not reported — ERSPC —
PSS001002 All individuals were non-proband carriers of a pathogenic or likely pathogenic variant (MYBPC3 truncating variant, MYBPC3 non-truncating variant, MYH7 variant, MYL2 variant, other genetic variant). Cases included individuals who had experienced a clinical event, defined as: time to septal reduction therapy, cardiac transplantation, sustained ventricular arrhythmia, sudden cardiac death, appropriate ICD therapy or atrial fibrillation/flutter. —
[
  • 33 cases
  • , 181 controls
]
 — Not reported — ERSPC —
PSS001003 All individuals were non-proband carriers of a pathogenic or likely pathogenic variant (MYBPC3 truncating variant, MYBPC3 non-truncating variant, MYH7 variant, MYL2 variant, other genetic variant). The primary outcome of maximal left ventricular wall thickness (maxLVWT) is defined as maxLVWT indexed to body surface area (BSA) on last available CMR or TTE prior to septal reduction therapy and cardiac transplantation. LVWT from CMR used whenever available unless TTE performed more than 5 years after last CMR. — 194 individuals — Not reported — ERSPC —
PSS001004 All individuals were carriers of a pathogenic or likely pathogenic variant (MYBPC3 truncating variant, MYBPC3 non-truncating variant, MYH7 variant, MYL2 variant, other genetic variant). Cases included individuals who had experienced septal reduction therapy, defined as: time to septal myectomy or alcohol septal ablation. —
[
  • 66 cases
  • , 302 controls
]
 — Not reported — ERSPC —