PGS Publication: PGP000301

Publication Information (EuropePMC)
Title Genome-wide association study reveals novel genetic loci: a new polygenic risk score for mitral valve prolapse.
PubMed ID 35245370(Europe PMC)
doi 10.1093/eurheartj/ehac049
Publication Date March 4, 2022
Journal Eur Heart J
Author(s) Roselli C, Yu M, Nauffal V, Georges A, Yang Q, Love K, Weng LC, Delling FN, Maurya SR, Schrölkamp M, Tfelt-Hansen J, Hagège A, Jeunemaitre X, Debette S, Amouyel P, Guan W, Muehlschlegel JD, Body SC, Shah S, Samad Z, Kyryachenko S, Haynes C, Rienstra M, Le Tourneau T, Probst V, Roussel R, Wijdh-Den Hamer IJ, Siland JE, Knowlton KU, Jacques Schott J, Levine RA, Benjamin EJ, Vasan RS, Horne BD, Muhlestein JB, Benfari G, Enriquez-Sarano M, Natale A, Mohanty S, Trivedi C, Shoemaker MB, Yoneda ZT, Wells QS, Baker MT, Farber-Eger E, Michelena HI, Lundby A, Norris RA, Slaugenhaupt SA, Dina C, Lubitz SA, Bouatia-Naji N, Ellinor PT, Milan DJ.
Released in PGS Catalog: April 1, 2022

Associated Polygenic Score(s)

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Individuals included in:
G - Source of Variant Associations (GWAS)
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PGS Developed By This Publication

Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution
Scoring File (FTP Link)
PGP000301 |
Roselli C et al. Eur Heart J (2022)
Mitral valve prolapse Mitral valve prolapse 1,097,364

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
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
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
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
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