Trait: Peptic ulcer

Trait Information
Identifier HP_0004398
Description The term peptic ulcer refers to acid peptic injury of the digestive tract, resulting in mucosal break reaching the submucosa. Peptic ulcers are usually located in the stomach or proximal duodenum, but they can also be found in the esophagus or Meckel's diverticulum. Infection with Helicobacter pylori and the use of non steroidal antiinflammatory drugs (NSAIDs) or aspirin are the main risk factors of both gastric and duodenal peptic ulcers. [PMID: 28242110]
Trait category
Other trait
Synonym Sore in the lining of gastrointestinal tract

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)
PGS019330
(TPMI_531_Lassosum2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Peptic ulcer excl esophageal Peptic ulcer 461,945
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019330/ScoringFiles/PGS019330.txt.gz
PGS019331
(TPMI_531_LDpred2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Peptic ulcer excl esophageal Peptic ulcer 939,893
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019331/ScoringFiles/PGS019331.txt.gz
PGS019332
(TPMI_531_MegaPRS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Peptic ulcer excl esophageal Peptic ulcer 24,193
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019332/ScoringFiles/PGS019332.txt.gz
PGS019333
(TPMI_531_PRS-CS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Peptic ulcer excl esophageal Peptic ulcer 983,826
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019333/ScoringFiles/PGS019333.txt.gz
PGS019334
(TPMI_531_SBayesR)
 PGP000835 |
Chen HH et al. Nature (2025)
 Peptic ulcer excl esophageal Peptic ulcer 933,417
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019334/ScoringFiles/PGS019334.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
PPM037512 PGS019330
(TPMI_531_Lassosum2)
 PSS013238|
East Asian Ancestry|
19,267 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Peptic ulcer excl esophageal — AUROC: 0.59973 R²: 0.04223 sex, age, array, PCs 1-10 —
PPM037513 PGS019331
(TPMI_531_LDpred2)
 PSS013237|
East Asian Ancestry|
19,267 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Peptic ulcer excl esophageal — AUROC: 0.60166 R²: 0.04322 sex, age, array, PCs 1-10 —
PPM037514 PGS019332
(TPMI_531_MegaPRS)
 PSS013239|
East Asian Ancestry|
19,267 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Peptic ulcer excl esophageal — AUROC: 0.60005 R²: 0.04222 sex, age, array, PCs 1-10 —
PPM037515 PGS019333
(TPMI_531_PRS-CS)
 PSS013240|
East Asian Ancestry|
19,267 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Peptic ulcer excl esophageal — AUROC: 0.60167 R²: 0.04341 sex, age, array, PCs 1-10 —
PPM037516 PGS019334
(TPMI_531_SBayesR)
 PSS013241|
East Asian Ancestry|
19,267 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Peptic ulcer excl esophageal — AUROC: 0.60059 R²: 0.04264 sex, age, array, PCs 1-10 —

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
PSS013237 531, 532, 533, 534, V12.71,K25, K26, K27, K28, Z87.11 —
[
  • 3,269 cases
  • , 15,998 controls
]
,
46.02 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013238 531, 532, 533, 534, V12.71,K25, K26, K27, K28, Z87.11 —
[
  • 3,269 cases
  • , 15,998 controls
]
,
46.02 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013239 531, 532, 533, 534, V12.71,K25, K26, K27, K28, Z87.11 —
[
  • 3,269 cases
  • , 15,998 controls
]
,
46.02 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013240 531, 532, 533, 534, V12.71,K25, K26, K27, K28, Z87.11 —
[
  • 3,269 cases
  • , 15,998 controls
]
,
46.02 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013241 531, 532, 533, 534, V12.71,K25, K26, K27, K28, Z87.11 —
[
  • 3,269 cases
  • , 15,998 controls
]
,
46.02 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —