Polygenic Score (PGS) ID: PGS003447

Predicted Trait
Reported Trait Endometriosis
Mapped Trait(s) endometriosis (EFO_0001065)
Released in PGS Catalog: March 24, 2023
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Score Details

Score Construction
PGS Name PRS14_endo
Development Method
Name GWAS-significant variants
Parameters NR
Variants
Original Genome Build NR
Number of Variants 14
Effect Weight Type log(OR)
PGS Source
PGS Catalog Publication (PGP) ID PGP000447
Citation (link to publication) Kloeve-Mogensen K et al. Front Reprod Health (2021)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 98%
East Asian: 2%
208,903 individuals (100%)
PGS Evaluation
European: 54.5%
Not Reported: 45.5%
11 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
GWAS Catalog: GCST004549
Europe PMC: 28537267
 204,641 individuals European NR
GWAS Catalog: GCST004549
Europe PMC: 28537267
 4,262 individuals East Asian NR

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
PPM017213 PSS010171|
European Ancestry|
259,189 individuals
 PGP000447 |
Kloeve-Mogensen K et al. Front Reprod Health (2021)
 Reported Trait: Endometriosis OR: 1.28 AUROC: 0.57 R²: 0.006 — R2 is estimated using Nagelkerke's method
PPM017214 PSS010164|
Ancestry Not Reported|
1,053 individuals
 PGP000447 |
Kloeve-Mogensen K et al. Front Reprod Health (2021)
 Reported Trait: Adenomyosis OR: 1.04 AUROC: 0.5 R²: 0.0 — R2 is estimated using Nagelkerke's method
PPM017215 PSS010170|
European Ancestry|
258,105 individuals
 PGP000447 |
Kloeve-Mogensen K et al. Front Reprod Health (2021)
 Reported Trait: Adenomyosis OR: 1.07 AUROC: 0.52 R²: 0.0 — R2 is estimated using Nagelkerke's method
PPM017216 PSS010166|
Ancestry Not Reported|
874 individuals
 PGP000447 |
Kloeve-Mogensen K et al. Front Reprod Health (2021)
 Reported Trait: Infiltrating endometriosis OR: 1.66 AUROC: 0.6 R²: 0.065 — R2 is estimated using Nagelkerke's method
PPM017217 PSS010168|
Ancestry Not Reported|
739 individuals
 PGP000447 |
Kloeve-Mogensen K et al. Front Reprod Health (2021)
 Reported Trait: Ovarian endometriosis OR: 1.72 AUROC: 0.64 R²: 0.051 — R2 is estimated using Nagelkerke's method
PPM017218 PSS010169|
Ancestry Not Reported|
724 individuals
 PGP000447 |
Kloeve-Mogensen K et al. Front Reprod Health (2021)
 Reported Trait: Peritoneal endometriosis OR: 1.51 AUROC: 0.61 R²: 0.026 — R2 is estimated using Nagelkerke's method
PPM017219 PSS010167|
Ancestry Not Reported|
708 individuals
 PGP000447 |
Kloeve-Mogensen K et al. Front Reprod Health (2021)
 Reported Trait: Endometriosis - other subtype OR: 1.27 AUROC: 0.53 R²: 0.008 — R2 is estimated using Nagelkerke's method
PPM017220 PSS010172|
European Ancestry|
256,327 individuals
 PGP000447 |
Kloeve-Mogensen K et al. Front Reprod Health (2021)
 Reported Trait: Infiltrating endometriosis OR: 1.22 AUROC: 0.55 R²: 0.002 — R2 is estimated using Nagelkerke's method
PPM017221 PSS010174|
European Ancestry|
257,380 individuals
 PGP000447 |
Kloeve-Mogensen K et al. Front Reprod Health (2021)
 Reported Trait: Ovarian endometriosis OR: 1.39 AUROC: 0.6 R²: 0.009 — R2 is estimated using Nagelkerke's method
PPM017223 PSS010173|
European Ancestry|
257,190 individuals
 PGP000447 |
Kloeve-Mogensen K et al. Front Reprod Health (2021)
 Reported Trait: Endometriosis - other subtype OR: 1.19 AUROC: 0.55 R²: 0.002 — R2 is estimated using Nagelkerke's method
PPM017212 PSS010164|
Ancestry Not Reported|
1,053 individuals
 PGP000447 |
Kloeve-Mogensen K et al. Front Reprod Health (2021)
 Reported Trait: Endometriosis OR: 1.57 AUROC: 0.64 R²: 0.061 — R2 is estimated using Nagelkerke's method
PPM017222 PSS010175|
European Ancestry|
256,958 individuals
 PGP000447 |
Kloeve-Mogensen K et al. Front Reprod Health (2021)
 Reported Trait: Peritoneal endometriosis OR: 1.25 AUROC: 0.56 R²: 0.004 — R2 is estimated using Nagelkerke's method

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
PSS010164 Surgically confirmed or ICD10 code cases (N80.1-N80.9). —
[
  • 389 cases
  • , 664 controls
]
,
0.0 % Male samples
 — Not reported
(Danish)		 — Aalborg, Aarhus, DTR —
PSS010166 ICD10 codes N80.4, N80.5 —
[
  • 210 cases
  • , 664 controls
]
,
0.0 % Male samples
 — Not reported
(Danish)		 — Aalborg, Aarhus, DTR —
PSS010167 ICD10 codes N80.6, N80.8, N80.9 —
[
  • 44 cases
  • , 664 controls
]
,
0.0 % Male samples
 — Not reported
(Danish)		 — Aalborg, Aarhus, DTR —
PSS010168 ICD10 code N80.1 —
[
  • 75 cases
  • , 664 controls
]
,
0.0 % Male samples
 — Not reported
(Danish)		 — Aalborg, Aarhus, DTR —
PSS010169 ICD10 codes N80.2, N80.3 —
[
  • 60 cases
  • , 664 controls
]
,
0.0 % Male samples
 — Not reported
(Danish)		 — Aalborg, Aarhus, DTR —
PSS010170 ICD10 code N80.0 —
[
  • 1,883 cases
  • , 256,222 controls
]
,
0.0 % Male samples
 — European
(white British)		 — UKB —
PSS010171 ICD10 codes (N80.1-N80.9) or self-reported cases. —
[
  • 2,967 cases
  • , 256,222 controls
]
,
0.0 % Male samples
 — European
(British)		 — UKB —
PSS010172 ICD10 codes N80.4, N80.5 —
[
  • 105 cases
  • , 256,222 controls
]
,
0.0 % Male samples
 — European
(white British)		 — UKB —
PSS010173 ICD10 codes N80.6, N80.8, N80.9 —
[
  • 968 cases
  • , 256,222 controls
]
,
0.0 % Male samples
 — European
(white British)		 — UKB —
PSS010174 ICD10 code N80.1 —
[
  • 1,158 cases
  • , 256,222 controls
]
,
0.0 % Male samples
 — European
(white British)		 — UKB —
PSS010175 ICD10 codes N80.2, N80.3 —
[
  • 736 cases
  • , 256,222 controls
]
,
0.0 % Male samples
 — European
(white British)		 — UKB —