Trait: mitral valve disorder

Trait Information
Identifier MONDO_0003767
Description A disease involving the mitral valve.
Trait category
Other trait
Synonyms 11 synonyms
  • disease of mitral valve
  • disease or disorder of mitral valve
  • disorder of mitral valve
  • mitral valve disease
  • mitral valve disease or disorder
  • mitral valve disorder
  • rheumatic disease of mitral valve
  • rheumatic mitral insufficiency
  • rheumatic mitral valve changes
  • rheumatic mitral valve incompetence
  • rheumatic mitral valve regurgitation
Child trait(s) Mitral valve prolapse

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:
Display options:
Ancestry legend
Multi-ancestry (including European)
Multi-ancestry (excluding European)
African
East Asian
South Asian
Additional Asian Ancestries
European
Greater Middle Eastern
Hispanic or Latin American
Additional Diverse Ancestries
Not Reported
Note: This table shows PGS for child terms of "mitral valve disorder" in the EFO hierarchy.
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 —