Trait: Mitral valve prolapse

Trait Information
Identifier HP_0001634
Description One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle.
Trait category
Cardiovascular disease
Mapped terms 5 mapped terms
  • Fyler:1533
  • MeSH:D008945
  • SNOMEDCT_US:409712001
  • SNOMEDCT_US:8074002
  • UMLS:C0026267

Associated Polygenic Score(s)

Filter PGS by Participant Ancestry
Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
List of ancestries includes:
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Ancestry legend
Multi-ancestry (including European)
Multi-ancestry (excluding European)
African
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Additional Asian Ancestries
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Greater Middle Eastern
Hispanic or Latin American
Additional Diverse Ancestries
Not Reported
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)
PGS002271
(PRS_MVP)
 PGP000301 |
Roselli C et al. Eur Heart J (2022)
 Mitral valve prolapse Mitral valve prolapse 1,097,364
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002271/ScoringFiles/PGS002271.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
PPM012925 PGS002271
(PRS_MVP)
 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 PGS002271
(PRS_MVP)
 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 —