Trait: pelvic organ prolapse

Experimental Factor Ontology (EFO) Information
Identifier EFO_0004710
Description Abnormal descent of a pelvic organ resulting in the protrusion of the organ beyond its normal anatomical confines. Symptoms often include vaginal discomfort, dyspareunia; urinary stress incontinence; and fecal incontinence. [MESH: D056887]
Trait category
Other disease
Synonyms 17 synonyms
  • Organ Prolapse, Pelvic
  • Organ Prolapses, Pelvic
  • POP
  • Pelvic Organ Prolapses
  • Prolapse, Pelvic Organ
  • Prolapse, Urogenital
  • Prolapse, Vaginal Vault
  • Prolapses, Pelvic Organ
  • Prolapses, Urogenital
  • Prolapses, Vaginal Vault
  • Urogenital Prolapse
  • Urogenital Prolapses
  • Vaginal Vault Prolapse
  • Vaginal Vault Prolapses
  • Vault Prolapse, Vaginal
  • Vault Prolapses, Vaginal
  • pelvic organ prolapse
Mapped terms 8 mapped terms
  • MEDGEN:209090
  • MESH:D056887
  • MONDO:0000082
  • MeSH:D056887
  • SCTID:237113009
  • SNOMEDCT:237113009
  • UMLS:C0877015
  • icd11.foundation:148580117

Associated Polygenic Score(s)

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Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
List of ancestries includes:
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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)
PGS002288
(PRS_POP)
 PGP000314 |
Pujol-Gualdo N et al. Nat Commun (2022)
 Pelvic organ prolapse pelvic organ prolapse 3,242,959
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002288/ScoringFiles/PGS002288.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
PPM012986 PGS002288
(PRS_POP)
 PSS009640|
European Ancestry|
98,656 individuals
 PGP000314 |
Pujol-Gualdo N et al. Nat Commun (2022)
 Reported Trait: Incident pelvic organ prolapse cases HR: 1.31 [1.25, 1.37] C-index: 0.592 — 10 PCs, and seven batche indicators —

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
PSS009640 — —
[
  • 2,517 cases
  • , 96,139 controls
]
,
0.0 % Male samples
 — European — EB —