Trait: Hiatus hernia

Trait Information
Identifier HP_0002036
Description The presence of a hernia in which the upper part of the stomach, i.e., mainly the gastric cardia protrudes through the diaphragmatic esophageal hiatus. [HPO: probinson]
Trait category
Other trait
Synonyms 2 synonyms
  • Hiatal hernia
  • Stomach hernia
Mapped terms 4 mapped terms
  • MEDDRA:10020028
  • MSH:D006551
  • SNOMEDCT_US:84089009
  • UMLS:C3489393

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)
PGS000939
(GBE_HC310)
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Hiatus hernia Hiatus hernia 2,553
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000939/ScoringFiles/PGS000939.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
PPM007522 PGS000939
(GBE_HC310)
PSS004427|
African Ancestry|
6,497 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Hiatus hernia AUROC: 0.64044 [0.61719, 0.66369] : 0.04433
Incremental AUROC (full-covars): -0.00233
PGS R2 (no covariates): 0.00066
PGS AUROC (no covariates): 0.51517 [0.49142, 0.53893]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007523 PGS000939
(GBE_HC310)
PSS004428|
East Asian Ancestry|
1,704 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Hiatus hernia AUROC: 0.63197 [0.57447, 0.68948] : 0.03898
Incremental AUROC (full-covars): 0.00432
PGS R2 (no covariates): 0.00207
PGS AUROC (no covariates): 0.53874 [0.47063, 0.60684]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007524 PGS000939
(GBE_HC310)
PSS004429|
European Ancestry|
24,905 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Hiatus hernia AUROC: 0.66967 [0.6596, 0.67973] : 0.07255
Incremental AUROC (full-covars): 0.00184
PGS R2 (no covariates): 0.00362
PGS AUROC (no covariates): 0.53601 [0.525, 0.54702]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007525 PGS000939
(GBE_HC310)
PSS004430|
South Asian Ancestry|
7,831 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Hiatus hernia AUROC: 0.66241 [0.64416, 0.68066] : 0.06499
Incremental AUROC (full-covars): 0.00273
PGS R2 (no covariates): 0.0024
PGS AUROC (no covariates): 0.53088 [0.51112, 0.55065]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007526 PGS000939
(GBE_HC310)
PSS004431|
European Ancestry|
67,425 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Hiatus hernia AUROC: 0.64829 [0.6425, 0.65408] : 0.05826
Incremental AUROC (full-covars): 0.00672
PGS R2 (no covariates): 0.00515
PGS AUROC (no covariates): 0.54418 [0.53797, 0.55038]
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
PSS004427
[
  • 590 cases
  • , 5,907 controls
]
African unspecified UKB
PSS004428
[
  • 82 cases
  • , 1,622 controls
]
East Asian UKB
PSS004429
[
  • 3,001 cases
  • , 21,904 controls
]
European non-white British ancestry UKB
PSS004430
[
  • 920 cases
  • , 6,911 controls
]
South Asian UKB
PSS004431
[
  • 9,526 cases
  • , 57,899 controls
]
European white British ancestry UKB Testing cohort (heldout set)