Trait: diverticular disease

Experimental Factor Ontology (EFO) Information
Identifier EFO_0009959
Description A complex disorder characterised by mucosal outpouchings (diverticulae) of the colonic wall which can become infected and inflamed leading to diverticulitis, perforation and bleeding.
Trait category
Digestive system disorder
Mapped term MedDRA:10013534

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)
PGS000996
(GBE_HC262)
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Diverticular disease/diverticulitis diverticular disease,
diverticulitis		 368
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000996/ScoringFiles/PGS000996.txt.gz
PGS000997
(GBE_HC1106)
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Diverticular disease of intestine (time-to-event) diverticular disease 5,757
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000997/ScoringFiles/PGS000997.txt.gz
PGS004474
(disease.K57.score)
 PGP000561 |
Jung H et al. Commun Biol (2024)
 K57 (Diverticular disease of intestine) diverticular disease 1,059,939
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004474/ScoringFiles/PGS004474.txt.gz
PGS004544
(meta.K57.score)
 PGP000561 |
Jung H et al. Commun Biol (2024)
 K57 (Diverticular disease of intestine) diverticular disease 1,059,939
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004544/ScoringFiles/PGS004544.txt.gz
PGS004614
(DivD_SNPWeights)
 PGP000592 |
Wu Y et al. Cell Genom (2023)
 Diverticular disease diverticular disease 1,082,282
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004614/ScoringFiles/PGS004614.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
PPM007743 PGS000996
(GBE_HC262)
 PSS004389|
African Ancestry|
6,497 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Diverticular disease/diverticulitis — AUROC: 0.86271 [0.73099, 0.99443] R²: 0.12936
Incremental AUROC (full-covars): 0.00213
PGS R2 (no covariates): 0.00894
PGS AUROC (no covariates): 0.62053 [0.46342, 0.77764]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007744 PGS000996
(GBE_HC262)
 PSS004390|
East Asian Ancestry|
1,704 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Diverticular disease/diverticulitis — AUROC: 0.91481 [0.74874, 1.0] R²: 0.2785
Incremental AUROC (full-covars): 0.00029
PGS R2 (no covariates): 0.03618
PGS AUROC (no covariates): 0.74736 [0.4992, 0.99551]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007745 PGS000996
(GBE_HC262)
 PSS004391|
European Ancestry|
24,905 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Diverticular disease/diverticulitis — AUROC: 0.70041 [0.67086, 0.72996] R²: 0.04948
Incremental AUROC (full-covars): 0.0039
PGS R2 (no covariates): 0.00095
PGS AUROC (no covariates): 0.52419 [0.48988, 0.55849]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007746 PGS000996
(GBE_HC262)
 PSS004392|
South Asian Ancestry|
7,831 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Diverticular disease/diverticulitis — AUROC: 0.80455 [0.70545, 0.90364] R²: 0.1
Incremental AUROC (full-covars): 0.00844
PGS R2 (no covariates): 0.00928
PGS AUROC (no covariates): 0.62862 [0.53202, 0.72522]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007747 PGS000996
(GBE_HC262)
 PSS004393|
European Ancestry|
67,425 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Diverticular disease/diverticulitis — AUROC: 0.67555 [0.65884, 0.69227] R²: 0.03898
Incremental AUROC (full-covars): 0.00841
PGS R2 (no covariates): 0.00372
PGS AUROC (no covariates): 0.55186 [0.53326, 0.57047]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007748 PGS000997
(GBE_HC1106)
 PSS004124|
African Ancestry|
6,497 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE diverticular disease of intestine — AUROC: 0.70831 [0.67789, 0.73873] R²: 0.07998
Incremental AUROC (full-covars): -0.0081
PGS R2 (no covariates): 0.00158
PGS AUROC (no covariates): 0.52939 [0.49423, 0.56454]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007749 PGS000997
(GBE_HC1106)
 PSS004125|
East Asian Ancestry|
1,704 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE diverticular disease of intestine — AUROC: 0.75551 [0.65982, 0.85119] R²: 0.08781
Incremental AUROC (full-covars): -0.01168
PGS R2 (no covariates): 0.00059
PGS AUROC (no covariates): 0.52785 [0.41459, 0.64111]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007750 PGS000997
(GBE_HC1106)
 PSS004126|
European Ancestry|
24,905 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE diverticular disease of intestine — AUROC: 0.7155 [0.70514, 0.72586] R²: 0.10502
Incremental AUROC (full-covars): 0.01733
PGS R2 (no covariates): 0.01777
PGS AUROC (no covariates): 0.59105 [0.57889, 0.60321]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007751 PGS000997
(GBE_HC1106)
 PSS004127|
South Asian Ancestry|
7,831 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE diverticular disease of intestine — AUROC: 0.73365 [0.70818, 0.75911] R²: 0.09377
Incremental AUROC (full-covars): 0.01275
PGS R2 (no covariates): 0.01222
PGS AUROC (no covariates): 0.57957 [0.54784, 0.6113]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007752 PGS000997
(GBE_HC1106)
 PSS004128|
European Ancestry|
67,425 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE diverticular disease of intestine — AUROC: 0.68053 [0.67412, 0.68694] R²: 0.07483
Incremental AUROC (full-covars): 0.01974
PGS R2 (no covariates): 0.01533
PGS AUROC (no covariates): 0.5794 [0.57219, 0.58662]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM020589 PGS004474
(disease.K57.score)
 PSS011364|
European Ancestry|
56,192 individuals
 PGP000561 |
Jung H et al. Commun Biol (2024)
 Reported Trait: K57 (Diverticular disease of intestine) OR: 1.3125 — — — —
PPM020659 PGS004544
(meta.K57.score)
 PSS011364|
European Ancestry|
56,192 individuals
 PGP000561 |
Jung H et al. Commun Biol (2024)
 Reported Trait: K57 (Diverticular disease of intestine) OR: 1.32103 — — — —
PPM020789 PGS004614
(DivD_SNPWeights)
 PSS011413|
European Ancestry|
7,696 individuals
 PGP000592 |
Wu Y et al. Cell Genom (2023)
 Reported Trait: Diverticular disease — AUROC: 0.76 [0.721, 0.8] — family history, age, and sex —
PPM020790 PGS004614
(DivD_SNPWeights)
 PSS011415|
South Asian Ancestry|
11,896 individuals
 PGP000592 |
Wu Y et al. Cell Genom (2023)
 Reported Trait: Diverticular disease — AUROC: 0.638 [0.612, 0.658] — — —
PPM020791 PGS004614
(DivD_SNPWeights)
 PSS011414|
African Ancestry|
9,175 individuals
 PGP000592 |
Wu Y et al. Cell Genom (2023)
 Reported Trait: Diverticular disease — AUROC: 0.587 [0.563, 0.611] — — —

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
PSS004124 — —
[
  • 279 cases
  • , 6,218 controls
]
 — African unspecified — UKB —
PSS004125 — —
[
  • 24 cases
  • , 1,680 controls
]
 — East Asian — UKB —
PSS004126 — —
[
  • 2,245 cases
  • , 22,660 controls
]
 — European non-white British ancestry UKB —
PSS004127 — —
[
  • 330 cases
  • , 7,501 controls
]
 — South Asian — UKB —
PSS004128 — —
[
  • 6,501 cases
  • , 60,924 controls
]
 — European white British ancestry UKB Testing cohort (heldout set)
PSS011415 — —
[
  • 760 cases
  • , 11,136 controls
]
,
53.0 % Male samples
 — South Asian — UKB —
PSS004389 — —
[
  • 11 cases
  • , 6,486 controls
]
 — African unspecified — UKB —
PSS004390 — —
[
  • 2 cases
  • , 1,702 controls
]
 — East Asian — UKB —
PSS004391 — —
[
  • 267 cases
  • , 24,638 controls
]
 — European non-white British ancestry UKB —
PSS004392 — —
[
  • 14 cases
  • , 7,817 controls
]
 — South Asian — UKB —
PSS004393 — —
[
  • 917 cases
  • , 66,508 controls
]
 — European white British ancestry UKB Testing cohort (heldout set)
PSS011364 — — 56,192 individuals — European — UKB —
PSS011413 — —
[
  • 146 cases
  • , 7,550 controls
]
,
43.0 % Male samples
 — European — CARTaGENE —
PSS011414 — —
[
  • 596 cases
  • , 8,579 controls
]
,
42.0 % Male samples
 — African unspecified — UKB —