Trait: Inguinal hernia

Trait Information
Identifier HP_0000023
Description Protrusion of the contents of the abdominal cavity through the inguinal canal. [HPO: probinson]
Trait category
Other trait
Mapped terms 7 mapped terms
  • ICD10:K40
  • MEDDRA:10022016
  • MSH:D006552
  • MeSH:D006552
  • SNOMEDCT:396232000
  • SNOMEDCT_US:396232000
  • UMLS:C0019294

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)
PGS000948
(GBE_HC243)
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Inguinal hernia Inguinal hernia 1,899
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000948/ScoringFiles/PGS000948.txt.gz
PGS000949
(GBE_HC1094)
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Inguinal hernia (time-to-event) Inguinal hernia 3,085
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000949/ScoringFiles/PGS000949.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
PPM007573 PGS000949
(GBE_HC1094)
PSS004108|
European Ancestry|
67,425 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE inguinal hernia AUROC: 0.80466 [0.79851, 0.8108] : 0.19027
Incremental AUROC (full-covars): 0.01341
PGS R2 (no covariates): 0.01302
PGS AUROC (no covariates): 0.58201 [0.5728, 0.59123]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007572 PGS000949
(GBE_HC1094)
PSS004107|
South Asian Ancestry|
7,831 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE inguinal hernia AUROC: 0.80083 [0.78118, 0.82049] : 0.17463
Incremental AUROC (full-covars): 0.00263
PGS R2 (no covariates): 0.00658
PGS AUROC (no covariates): 0.56567 [0.53271, 0.59863]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007571 PGS000949
(GBE_HC1094)
PSS004106|
European Ancestry|
24,905 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE inguinal hernia AUROC: 0.81509 [0.80403, 0.82615] : 0.19099
Incremental AUROC (full-covars): 0.00779
PGS R2 (no covariates): 0.01076
PGS AUROC (no covariates): 0.5791 [0.56214, 0.59607]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007570 PGS000949
(GBE_HC1094)
PSS004105|
East Asian Ancestry|
1,704 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE inguinal hernia AUROC: 0.91597 [0.86802, 0.96391] : 0.32274
Incremental AUROC (full-covars): 0.00132
PGS R2 (no covariates): 0.01604
PGS AUROC (no covariates): 0.6059 [0.48166, 0.73015]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007569 PGS000949
(GBE_HC1094)
PSS004104|
African Ancestry|
6,497 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE inguinal hernia AUROC: 0.77669 [0.74183, 0.81155] : 0.12906
Incremental AUROC (full-covars): 0.0025
PGS R2 (no covariates): 0.00602
PGS AUROC (no covariates): 0.56793 [0.52138, 0.61447]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007568 PGS000948
(GBE_HC243)
PSS004378|
European Ancestry|
67,425 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Inguinal hernia AUROC: 0.80639 [0.79996, 0.81282] : 0.1844
Incremental AUROC (full-covars): 0.01302
PGS R2 (no covariates): 0.01276
PGS AUROC (no covariates): 0.58203 [0.57214, 0.59192]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007567 PGS000948
(GBE_HC243)
PSS004377|
South Asian Ancestry|
7,831 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Inguinal hernia AUROC: 0.79999 [0.77842, 0.82155] : 0.16477
Incremental AUROC (full-covars): 0.00323
PGS R2 (no covariates): 0.00427
PGS AUROC (no covariates): 0.55482 [0.52022, 0.58942]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007566 PGS000948
(GBE_HC243)
PSS004376|
European Ancestry|
24,905 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Inguinal hernia AUROC: 0.82392 [0.8123, 0.83554] : 0.19164
Incremental AUROC (full-covars): 0.00848
PGS R2 (no covariates): 0.01125
PGS AUROC (no covariates): 0.58382 [0.56527, 0.60237]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007565 PGS000948
(GBE_HC243)
PSS004375|
East Asian Ancestry|
1,704 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Inguinal hernia AUROC: 0.9389 [0.90999, 0.9678] : 0.36887
Incremental AUROC (full-covars): -0.00042
PGS R2 (no covariates): 0.0169
PGS AUROC (no covariates): 0.60459 [0.46834, 0.74083]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007564 PGS000948
(GBE_HC243)
PSS004374|
African Ancestry|
6,497 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Inguinal hernia AUROC: 0.78348 [0.74679, 0.82018] : 0.13075
Incremental AUROC (full-covars): 0.00435
PGS R2 (no covariates): 0.00705
PGS AUROC (no covariates): 0.56723 [0.51532, 0.61915]
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
PSS004104
[
  • 170 cases
  • , 6,327 controls
]
African unspecified UKB
PSS004105
[
  • 23 cases
  • , 1,681 controls
]
East Asian UKB
PSS004106
[
  • 1,142 cases
  • , 23,763 controls
]
European non-white British ancestry UKB
PSS004107
[
  • 327 cases
  • , 7,504 controls
]
South Asian UKB
PSS004108
[
  • 3,805 cases
  • , 63,620 controls
]
European white British ancestry UKB Testing cohort (heldout set)
PSS004374
[
  • 151 cases
  • , 6,346 controls
]
African unspecified UKB
PSS004375
[
  • 20 cases
  • , 1,684 controls
]
East Asian UKB
PSS004376
[
  • 947 cases
  • , 23,958 controls
]
European non-white British ancestry UKB
PSS004377
[
  • 284 cases
  • , 7,547 controls
]
South Asian UKB
PSS004378
[
  • 3,287 cases
  • , 64,138 controls
]
European white British ancestry UKB Testing cohort (heldout set)