Trait: Inguinal hernia

Trait Information
Identifier HP_0000023
Description Protrusion of the contents of the abdominal cavity through the inguinal canal.
Trait category
Other trait
Mapped terms 7 mapped terms
  • ICD10:K40
  • MEDDRA:10022016
  • MeSH:D006552
  • MedDRA:10022016
  • 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
GWAS
Dev
Eval
 Scoring File (FTP Link)
PGS000948
(GBE_HC243)
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 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. PLoS Genet (2022)
 Inguinal hernia (time-to-event) Inguinal hernia 3,085
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000949/ScoringFiles/PGS000949.txt.gz
PGS001854
(portability-PLR_550.1)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Inguinal hernia Inguinal hernia 7,326
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001854/ScoringFiles/PGS001854.txt.gz
PGS002065
(portability-ldpred2_550.1)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Inguinal hernia Inguinal hernia 691,268
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002065/ScoringFiles/PGS002065.txt.gz
PGS004471
(disease.K40.score)
 PGP000561 |
Jung H et al. Commun Biol (2024)
 K40 (Inguinal hernia) Inguinal hernia 1,059,939
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004471/ScoringFiles/PGS004471.txt.gz
PGS004541
(meta.K40.score)
 PGP000561 |
Jung H et al. Commun Biol (2024)
 K40 (Inguinal hernia) Inguinal hernia 1,059,939
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004541/ScoringFiles/PGS004541.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
PPM007564 PGS000948
(GBE_HC243)
 PSS004374|
African Ancestry|
6,497 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Inguinal hernia — AUROC: 0.78348 [0.74679, 0.82018] R²: 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
PPM007565 PGS000948
(GBE_HC243)
 PSS004375|
East Asian Ancestry|
1,704 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Inguinal hernia — AUROC: 0.9389 [0.90999, 0.9678] R²: 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
PPM007566 PGS000948
(GBE_HC243)
 PSS004376|
European Ancestry|
24,905 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Inguinal hernia — AUROC: 0.82392 [0.8123, 0.83554] R²: 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
PPM007567 PGS000948
(GBE_HC243)
 PSS004377|
South Asian Ancestry|
7,831 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Inguinal hernia — AUROC: 0.79999 [0.77842, 0.82155] R²: 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
PPM007568 PGS000948
(GBE_HC243)
 PSS004378|
European Ancestry|
67,425 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Inguinal hernia — AUROC: 0.80639 [0.79996, 0.81282] R²: 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
PPM007569 PGS000949
(GBE_HC1094)
 PSS004104|
African Ancestry|
6,497 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE inguinal hernia — AUROC: 0.77669 [0.74183, 0.81155] R²: 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
PPM007570 PGS000949
(GBE_HC1094)
 PSS004105|
East Asian Ancestry|
1,704 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE inguinal hernia — AUROC: 0.91597 [0.86802, 0.96391] R²: 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
PPM007571 PGS000949
(GBE_HC1094)
 PSS004106|
European Ancestry|
24,905 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE inguinal hernia — AUROC: 0.81509 [0.80403, 0.82615] R²: 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
PPM007572 PGS000949
(GBE_HC1094)
 PSS004107|
South Asian Ancestry|
7,831 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE inguinal hernia — AUROC: 0.80083 [0.78118, 0.82049] R²: 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
PPM007573 PGS000949
(GBE_HC1094)
 PSS004108|
European Ancestry|
67,425 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE inguinal hernia — AUROC: 0.80466 [0.79851, 0.8108] R²: 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
PPM009722 PGS001854
(portability-PLR_550.1)
 PSS009329|
European Ancestry|
18,171 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Inguinal hernia — — Partial Correlation (partial-r): 0.0676 [0.0531, 0.082] sex, age, birth date, deprivation index, 16 PCs —
PPM009723 PGS001854
(portability-PLR_550.1)
 PSS009103|
European Ancestry|
3,849 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Inguinal hernia — — Partial Correlation (partial-r): 0.04 [0.0084, 0.0716] sex, age, birth date, deprivation index, 16 PCs —
PPM009724 PGS001854
(portability-PLR_550.1)
 PSS008657|
European Ancestry|
6,131 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Inguinal hernia — — Partial Correlation (partial-r): 0.0717 [0.0467, 0.0966] sex, age, birth date, deprivation index, 16 PCs —
PPM009725 PGS001854
(portability-PLR_550.1)
 PSS008431|
Greater Middle Eastern Ancestry|
1,099 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Inguinal hernia — — Partial Correlation (partial-r): 0.0836 [0.024, 0.1426] sex, age, birth date, deprivation index, 16 PCs —
PPM009726 PGS001854
(portability-PLR_550.1)
 PSS008211|
South Asian Ancestry|
5,790 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Inguinal hernia — — Partial Correlation (partial-r): 0.0535 [0.0277, 0.0792] sex, age, birth date, deprivation index, 16 PCs —
PPM009727 PGS001854
(portability-PLR_550.1)
 PSS007993|
East Asian Ancestry|
1,742 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Inguinal hernia — — Partial Correlation (partial-r): 0.0451 [-0.0021, 0.0922] sex, age, birth date, deprivation index, 16 PCs —
PPM009728 PGS001854
(portability-PLR_550.1)
 PSS007776|
African Ancestry|
2,301 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Inguinal hernia — — Partial Correlation (partial-r): 0.0247 [-0.0164, 0.0656] sex, age, birth date, deprivation index, 16 PCs —
PPM009729 PGS001854
(portability-PLR_550.1)
 PSS008880|
African Ancestry|
3,668 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Inguinal hernia — — Partial Correlation (partial-r): 0.0298 [-0.0027, 0.0622] sex, age, birth date, deprivation index, 16 PCs —
PPM011382 PGS002065
(portability-ldpred2_550.1)
 PSS009329|
European Ancestry|
18,171 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Inguinal hernia — — Partial Correlation (partial-r): 0.072 [0.0575, 0.0865] sex, age, birth date, deprivation index, 16 PCs —
PPM011383 PGS002065
(portability-ldpred2_550.1)
 PSS009103|
European Ancestry|
3,849 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Inguinal hernia — — Partial Correlation (partial-r): 0.0516 [0.02, 0.0832] sex, age, birth date, deprivation index, 16 PCs —
PPM011384 PGS002065
(portability-ldpred2_550.1)
 PSS008657|
European Ancestry|
6,131 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Inguinal hernia — — Partial Correlation (partial-r): 0.0791 [0.0541, 0.1039] sex, age, birth date, deprivation index, 16 PCs —
PPM011385 PGS002065
(portability-ldpred2_550.1)
 PSS008431|
Greater Middle Eastern Ancestry|
1,099 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Inguinal hernia — — Partial Correlation (partial-r): 0.1064 [0.047, 0.165] sex, age, birth date, deprivation index, 16 PCs —
PPM011386 PGS002065
(portability-ldpred2_550.1)
 PSS008211|
South Asian Ancestry|
5,790 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Inguinal hernia — — Partial Correlation (partial-r): 0.0442 [0.0184, 0.0699] sex, age, birth date, deprivation index, 16 PCs —
PPM011387 PGS002065
(portability-ldpred2_550.1)
 PSS007993|
East Asian Ancestry|
1,742 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Inguinal hernia — — Partial Correlation (partial-r): 0.0374 [-0.0099, 0.0845] sex, age, birth date, deprivation index, 16 PCs —
PPM011388 PGS002065
(portability-ldpred2_550.1)
 PSS007776|
African Ancestry|
2,301 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Inguinal hernia — — Partial Correlation (partial-r): 0.0275 [-0.0135, 0.0685] sex, age, birth date, deprivation index, 16 PCs —
PPM011389 PGS002065
(portability-ldpred2_550.1)
 PSS008880|
African Ancestry|
3,668 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Inguinal hernia — — Partial Correlation (partial-r): 0.025 [-0.0074, 0.0574] sex, age, birth date, deprivation index, 16 PCs —
PPM020586 PGS004471
(disease.K40.score)
 PSS011364|
European Ancestry|
56,192 individuals
 PGP000561 |
Jung H et al. Commun Biol (2024)
 Reported Trait: K40 (Inguinal hernia) OR: 1.27301 — — — —
PPM020656 PGS004541
(meta.K40.score)
 PSS011364|
European Ancestry|
56,192 individuals
 PGP000561 |
Jung H et al. Commun Biol (2024)
 Reported Trait: K40 (Inguinal hernia) OR: 1.28826 — — — —

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
PSS008657 — — 6,131 individuals — European Italy (South Europe) UKB —
PSS007776 — — 2,301 individuals — African American or Afro-Caribbean Carribean UKB —
PSS008431 — — 1,099 individuals — Greater Middle Eastern (Middle Eastern, North African or Persian) Iran (Middle East) UKB —
PSS009329 — — 18,171 individuals — European UK (+ Ireland) UKB —
PSS009103 — — 3,849 individuals — European Poland (NE Europe) UKB —
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)
PSS008211 — — 5,790 individuals — South Asian India (South Asia) UKB —
PSS004374 — —
[
  • 151 cases
  • , 6,346 controls
]
 — African unspecified — UKB —
PSS011364 — — 56,192 individuals — European — 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)
PSS008880 — — 3,668 individuals — African unspecified Nigeria (West Africa) UKB —
PSS007993 — — 1,742 individuals — East Asian China (East Asia) UKB —