Trait: Epiphyses, Slipped

Experimental Factor Ontology (EFO) Information
Identifier EFO_1001317
Description One of the most common adolescent hip disorders and represents a unique type of instability of the proximal femoral growth plate. Four separate clinical groups are seen: Pre-slip (wide epiphyseal line without slippage), acute form (10-15% - slippage occurs suddenly, normally spontaneous), acute-on-chronic (slippage occurs acutely where there is already existing chronic slip) and chronic (85% - steadily progressive slippage, the most common form).
Trait category
Other disease
Synonyms 6 synonyms
  • SCFE
  • epiphysis, slipped
  • slipped capital femoral epiphysis
  • slipped disc
  • slipped epiphyese
  • slipped epiphysis
Mapped terms 2 mapped terms
  • MeSH:D004839
  • MedDRA:10041026

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:
Display options:
Ancestry legend
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
Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution Scoring File (FTP Link)
PGS000964
(GBE_HC176)
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Slipped disc Epiphyses, Slipped 47
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000964/ScoringFiles/PGS000964.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
PPM007644 PGS000964
(GBE_HC176)
PSS004326|
African Ancestry|
6,497 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Prolapsed disc/slipped disc AUROC: 0.63682 [0.56928, 0.70437] : 0.02156
Incremental AUROC (full-covars): 0.00372
PGS R2 (no covariates): 0.00327
PGS AUROC (no covariates): 0.55166 [0.47346, 0.62985]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007645 PGS000964
(GBE_HC176)
PSS004327|
East Asian Ancestry|
1,704 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Prolapsed disc/slipped disc AUROC: 0.81007 [0.70133, 0.91881] : 0.11316
Incremental AUROC (full-covars): -0.00081
PGS R2 (no covariates): 0.00529
PGS AUROC (no covariates): 0.44295 [0.26666, 0.61923]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007646 PGS000964
(GBE_HC176)
PSS004328|
European Ancestry|
24,905 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Prolapsed disc/slipped disc AUROC: 0.56388 [0.53738, 0.59039] : 0.00535
Incremental AUROC (full-covars): 0.00616
PGS R2 (no covariates): 0.00079
PGS AUROC (no covariates): 0.5207 [0.49331, 0.54808]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007647 PGS000964
(GBE_HC176)
PSS004329|
South Asian Ancestry|
7,831 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Prolapsed disc/slipped disc AUROC: 0.61724 [0.56387, 0.67062] : 0.01708
Incremental AUROC (full-covars): 0.00757
PGS R2 (no covariates): 0.00213
PGS AUROC (no covariates): 0.54913 [0.49663, 0.60163]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007648 PGS000964
(GBE_HC176)
PSS004330|
European Ancestry|
67,425 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Prolapsed disc/slipped disc AUROC: 0.5452 [0.52946, 0.56094] : 0.0026
Incremental AUROC (full-covars): 0.01313
PGS R2 (no covariates): 0.00226
PGS AUROC (no covariates): 0.54225 [0.5262, 0.5583]
age, sex, UKB array type, Genotype PCs Full Model & PGS 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
PSS004326
[
  • 69 cases
  • , 6,428 controls
]
African unspecified UKB
PSS004327
[
  • 11 cases
  • , 1,693 controls
]
East Asian UKB
PSS004328
[
  • 434 cases
  • , 24,471 controls
]
European non-white British ancestry UKB
PSS004329
[
  • 110 cases
  • , 7,721 controls
]
South Asian UKB
PSS004330
[
  • 1,236 cases
  • , 66,189 controls
]
European white British ancestry UKB Testing cohort (heldout set)