Polygenic Score (PGS) ID: PGS002271

Predicted Trait
Reported Trait Mitral valve prolapse
Mapped Trait(s) Mitral valve prolapse (HP_0001634)
Released in PGS Catalog: April 1, 2022
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Score Details

Score Construction
PGS Name PRS_MVP
Development Method
Name PRS-CS
Parameters PARAM_PHI =1e-2; LD panel = 1000G EUR
Variants
Original Genome Build GRCh38
Number of Variants 1,097,364
Effect Weight Type beta
PGS Source
PGS Catalog Publication (PGP) ID PGP000301
Citation (link to publication) Roselli C et al. Eur Heart J (2022)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 100%
46,304 individuals (100%)
PGS Evaluation
European: 100%
1 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
Europe PMC: 35245370
[
  • 4,193 cases
  • , 42,111 controls
]
 European FHS, MGBB, MVP

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
PPM012925 PSS009620|
European Ancestry|
393,229 individuals
 PGP000301 |
Roselli C et al. Eur Heart J (2022)
 Reported Trait: Risk of mitral valve prolapse — AUROC: 0.6614 [0.641, 0.6819] — Age, sex —
PPM012924 PSS009620|
European Ancestry|
393,229 individuals
 PGP000301 |
Roselli C et al. Eur Heart J (2022)
 Reported Trait: Risk of mitral valve prolapse — AUROC: 0.6772 [0.6563, 0.6982] — Age, sex, hypertension, all-cause heart failure, myocardial infarction, and diabetes (Type 1 and Type 2)] —

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
PSS009620 MVP was defined according to contemporary echocardiographic society guidelines as leaflet displacement ≥2 mm beyond the mitral annulus in a long-axis view at end-systole involving one or both MV leaflets when raw imaging data were available for review or via electronic medical record search for MVP diagnosis using ICD and procedure codes or natural language processing —
[
  • 691 cases
  • , 392,538 controls
]
 — European — UKB —