PGS Publication: PGP000447

Publication Information (EuropePMC)
Title Polygenic Risk Score Prediction for Endometriosis.
PubMed ID 36303976(Europe PMC)
doi 10.3389/frph.2021.793226
Publication Date Dec. 17, 2021
Journal Front Reprod Health
Author(s) Kloeve-Mogensen K, Rohde PD, Twisttmann S, Nygaard M, Koldby KM, Steffensen R, Dahl CM, Rytter D, Overgaard MT, Forman A, Christiansen L, Nyegaard M.
Released in PGS Catalog: March 24, 2023

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:
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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

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)
PGS003447
(PRS14_endo)
PGP000447 |
Kloeve-Mogensen K et al. Front Reprod Health (2021)
Endometriosis endometriosis 14
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003447/ScoringFiles/PGS003447.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
PPM017213 PGS003447
(PRS14_endo)
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 : 0.006 R2 is estimated using Nagelkerke's method
PPM017214 PGS003447
(PRS14_endo)
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 : 0.0 R2 is estimated using Nagelkerke's method
PPM017215 PGS003447
(PRS14_endo)
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 : 0.0 R2 is estimated using Nagelkerke's method
PPM017216 PGS003447
(PRS14_endo)
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 : 0.065 R2 is estimated using Nagelkerke's method
PPM017217 PGS003447
(PRS14_endo)
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 : 0.051 R2 is estimated using Nagelkerke's method
PPM017218 PGS003447
(PRS14_endo)
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 : 0.026 R2 is estimated using Nagelkerke's method
PPM017219 PGS003447
(PRS14_endo)
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 : 0.008 R2 is estimated using Nagelkerke's method
PPM017220 PGS003447
(PRS14_endo)
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 : 0.002 R2 is estimated using Nagelkerke's method
PPM017221 PGS003447
(PRS14_endo)
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 : 0.009 R2 is estimated using Nagelkerke's method
PPM017223 PGS003447
(PRS14_endo)
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 : 0.002 R2 is estimated using Nagelkerke's method
PPM017212 PGS003447
(PRS14_endo)
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 : 0.061 R2 is estimated using Nagelkerke's method
PPM017222 PGS003447
(PRS14_endo)
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 : 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