Polygenic Score (PGS) ID: PGS002263

Predicted Trait
Reported Trait Uterine fibroids
Mapped Trait(s) uterine fibroid (EFO_0000731)
Released in PGS Catalog: March 16, 2022
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Score Details

Score Construction
PGS Name PRS_UF
Development Method
Name PRSice
Parameters r2 < 0.2, pt < 0.001
Variants
Original Genome Build NR
Number of Variants 4,457
Effect Weight Type beta
PGS Source
PGS Catalog Publication (PGP) ID PGP000291
Citation (link to publication) Piekos JA et al. Hum Genet (2022)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 100%
6,957 individuals (100%)
Score Development/Training
Not Reported: 100%
5,179 individuals (100%)
PGS Evaluation
European: 100%
1 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
GWAS Catalog: GCST008423
[
  • 2,651 cases
  • , 4,306 controls
]
,
0.0 % Male samples
 European eMERGE
Score Development/Training
Study Identifiers Sample Numbers Sample Ancestry Cohort(s) Phenotype Definitions & Methods Age of Study Participants Participant Follow-up Time Additional Ancestry Description Additional Sample/Cohort Information
—
[
  • 429 cases
  • , 4,750 controls
]
,
0.0 % Male samples
 Not reported BioVU — — — — Overalps with GWAS

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
PPM012882 PSS009591|
European Ancestry|
26,637 individuals
 PGP000291 |
Piekos JA et al. Hum Genet (2022)
 Reported Trait: Uterine fibroid OR: 1.35 [1.34, 1.37] AUROC: 0.6 [0.58, 0.62] — BMI, age, 10 principal components —
PPM012883 PSS009591|
European Ancestry|
26,637 individuals
 PGP000291 |
Piekos JA et al. Hum Genet (2022)
 Reported Trait: Benign neoplasm of uterus OR: 1.31 [1.26, 1.37] — — BMI, age, 10 principal components —
PPM012884 PSS009591|
European Ancestry|
26,637 individuals
 PGP000291 |
Piekos JA et al. Hum Genet (2022)
 Reported Trait: Uterine leiomyoma OR: 1.32 [1.26, 1.37] — — BMI, age, 10 principal components —

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
PSS009591 — — 26,637 individuals,
0.0 % Male samples
 Mean = 67.04 years
Sd = 19.14 years		 European
(White)		 — eMERGE —