Trait: duodenal disorder

Trait Information
Identifier MONDO_0002866
Description Pathological conditions in the duodenum region of the small intestine (intestine, small). [MESH: D004378]
Trait category
Other trait
Synonyms 5 synonyms
  • disease of duodenum
  • disease or disorder of duodenum
  • disorder of duodenum
  • duodenum disease
  • duodenum disease or disorder
Child trait(s) 2 child traits

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
Note: This table shows PGS for child terms of "duodenal disorder" in the EFO hierarchy.
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)
PGS001390
(GBE_HC1084)
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Duodenal ulcer (time-to-event) duodenal ulcer 220
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001390/ScoringFiles/PGS001390.txt.gz
PGS001852
(portability-PLR_535.6)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Duodenitis duodenitis 191
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001852/ScoringFiles/PGS001852.txt.gz
PGS019335
(TPMI_531.3_Lassosum2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Duodenal ulcer duodenal ulcer 19
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019335/ScoringFiles/PGS019335.txt.gz
PGS019336
(TPMI_531.3_LDpred2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Duodenal ulcer duodenal ulcer 939,880
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019336/ScoringFiles/PGS019336.txt.gz
PGS019337
(TPMI_531.3_MegaPRS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Duodenal ulcer duodenal ulcer 21,469
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019337/ScoringFiles/PGS019337.txt.gz
PGS019338
(TPMI_531.3_PRS-CS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Duodenal ulcer duodenal ulcer 983,821
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019338/ScoringFiles/PGS019338.txt.gz
PGS019339
(TPMI_531.3_SBayesR)
 PGP000835 |
Chen HH et al. Nature (2025)
 Duodenal ulcer duodenal ulcer 966,134
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019339/ScoringFiles/PGS019339.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
PPM005200 PGS001390
(GBE_HC1084)
 PSS004094|
African Ancestry|
6,497 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE duodenal ulcer — AUROC: 0.71018 [0.66062, 0.75975] R²: 0.05605
Incremental AUROC (full-covars): 0.00294
PGS R2 (no covariates): 0.00399
PGS AUROC (no covariates): 0.5623 [0.50635, 0.61825]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM005201 PGS001390
(GBE_HC1084)
 PSS004095|
East Asian Ancestry|
1,704 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE duodenal ulcer — AUROC: 0.66565 [0.55325, 0.77805] R²: 0.04606
Incremental AUROC (full-covars): 0.00253
PGS R2 (no covariates): 0.006
PGS AUROC (no covariates): 0.56376 [0.43513, 0.6924]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM005202 PGS001390
(GBE_HC1084)
 PSS004096|
European Ancestry|
24,905 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE duodenal ulcer — AUROC: 0.71045 [0.68829, 0.73261] R²: 0.06289
Incremental AUROC (full-covars): 0.0043
PGS R2 (no covariates): 0.0047
PGS AUROC (no covariates): 0.55991 [0.53425, 0.58556]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM005203 PGS001390
(GBE_HC1084)
 PSS004097|
South Asian Ancestry|
7,831 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE duodenal ulcer — AUROC: 0.70619 [0.66443, 0.74795] R²: 0.0567
Incremental AUROC (full-covars): 0.00581
PGS R2 (no covariates): 0.00168
PGS AUROC (no covariates): 0.54031 [0.491, 0.58961]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM005204 PGS001390
(GBE_HC1084)
 PSS004098|
European Ancestry|
67,425 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE duodenal ulcer — AUROC: 0.68746 [0.67261, 0.70231] R²: 0.04811
Incremental AUROC (full-covars): 0.00644
PGS R2 (no covariates): 0.00484
PGS AUROC (no covariates): 0.56101 [0.54453, 0.5775]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009706 PGS001852
(portability-PLR_535.6)
 PSS009327|
European Ancestry|
18,600 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Duodenitis — — Partial Correlation (partial-r): 0.0198 [0.0055, 0.0342] sex, age, birth date, deprivation index, 16 PCs —
PPM009707 PGS001852
(portability-PLR_535.6)
 PSS009101|
European Ancestry|
3,868 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Duodenitis — — Partial Correlation (partial-r): 0.0235 [-0.0081, 0.0551] sex, age, birth date, deprivation index, 16 PCs —
PPM009708 PGS001852
(portability-PLR_535.6)
 PSS008655|
European Ancestry|
6,233 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Duodenitis — — Partial Correlation (partial-r): -0.0217 [-0.0465, 0.0032] sex, age, birth date, deprivation index, 16 PCs —
PPM009709 PGS001852
(portability-PLR_535.6)
 PSS008429|
Greater Middle Eastern Ancestry|
1,076 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Duodenitis — — Partial Correlation (partial-r): 0.002 [-0.0583, 0.0623] sex, age, birth date, deprivation index, 16 PCs —
PPM009710 PGS001852
(portability-PLR_535.6)
 PSS008209|
South Asian Ancestry|
5,720 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Duodenitis — — Partial Correlation (partial-r): 0.0315 [0.0055, 0.0574] sex, age, birth date, deprivation index, 16 PCs —
PPM009711 PGS001852
(portability-PLR_535.6)
 PSS007991|
East Asian Ancestry|
1,684 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Duodenitis — — Partial Correlation (partial-r): 0.0278 [-0.0203, 0.0757] sex, age, birth date, deprivation index, 16 PCs —
PPM009712 PGS001852
(portability-PLR_535.6)
 PSS007774|
African Ancestry|
2,298 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Duodenitis — — Partial Correlation (partial-r): -0.0208 [-0.0618, 0.0203] sex, age, birth date, deprivation index, 16 PCs —
PPM009713 PGS001852
(portability-PLR_535.6)
 PSS008878|
African Ancestry|
3,648 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Duodenitis — — Partial Correlation (partial-r): 0.0077 [-0.0249, 0.0402] sex, age, birth date, deprivation index, 16 PCs —
PPM037517 PGS019335
(TPMI_531.3_Lassosum2)
 PSS013233|
East Asian Ancestry|
16,641 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Duodenal ulcer — AUROC: 0.63988 R²: 0.0376 sex, age, array, PCs 1-10 —
PPM037518 PGS019336
(TPMI_531.3_LDpred2)
 PSS013232|
East Asian Ancestry|
16,641 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Duodenal ulcer — AUROC: 0.64014 R²: 0.03815 sex, age, array, PCs 1-10 —
PPM037519 PGS019337
(TPMI_531.3_MegaPRS)
 PSS013234|
East Asian Ancestry|
16,641 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Duodenal ulcer — AUROC: 0.63826 R²: 0.03705 sex, age, array, PCs 1-10 —
PPM037520 PGS019338
(TPMI_531.3_PRS-CS)
 PSS013235|
East Asian Ancestry|
16,641 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Duodenal ulcer — AUROC: 0.6384 R²: 0.03702 sex, age, array, PCs 1-10 —
PPM037521 PGS019339
(TPMI_531.3_SBayesR)
 PSS013236|
East Asian Ancestry|
16,641 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Duodenal ulcer — AUROC: 0.63913 R²: 0.03711 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
PSS004094 — —
[
  • 95 cases
  • , 6,402 controls
]
 — African unspecified — UKB —
PSS004095 — —
[
  • 24 cases
  • , 1,680 controls
]
 — East Asian — UKB —
PSS004096 — —
[
  • 481 cases
  • , 24,424 controls
]
 — European non-white British ancestry UKB —
PSS004097 — —
[
  • 135 cases
  • , 7,696 controls
]
 — South Asian — UKB —
PSS004098 — —
[
  • 1,164 cases
  • , 66,261 controls
]
 — European white British ancestry UKB Testing cohort (heldout set)
PSS009101 — — 3,868 individuals — European Poland (NE Europe) UKB —
PSS008429 — — 1,076 individuals — Greater Middle Eastern (Middle Eastern, North African or Persian) Iran (Middle East) UKB —
PSS009327 — — 18,600 individuals — European UK (+ Ireland) UKB —
PSS008655 — — 6,233 individuals — European Italy (South Europe) UKB —
PSS008209 — — 5,720 individuals — South Asian India (South Asia) UKB —
PSS008878 — — 3,648 individuals — African unspecified Nigeria (West Africa) UKB —
PSS007991 — — 1,684 individuals — East Asian China (East Asia) UKB —
PSS013233 532.1, 532.3, 532.5, 532.7, 532.9,K26 —
[
  • 643 cases
  • , 15,998 controls
]
,
46.01 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013232 532.1, 532.3, 532.5, 532.7, 532.9,K26 —
[
  • 643 cases
  • , 15,998 controls
]
,
46.01 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013234 532.1, 532.3, 532.5, 532.7, 532.9,K26 —
[
  • 643 cases
  • , 15,998 controls
]
,
46.01 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013235 532.1, 532.3, 532.5, 532.7, 532.9,K26 —
[
  • 643 cases
  • , 15,998 controls
]
,
46.01 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS007774 — — 2,298 individuals — African American or Afro-Caribbean Carribean UKB —
PSS013236 532.1, 532.3, 532.5, 532.7, 532.9,K26 —
[
  • 643 cases
  • , 15,998 controls
]
,
46.01 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —