Trait: diverticulitis

Experimental Factor Ontology (EFO) Information
Identifier EFO_1001460
Description An infection that develops in the diverticula of the intestinal tract. Signs and symptoms include abdominal pain, fever, and leukocytosis. [NCIT: C26752]
Trait category
Digestive system disorder
Synonyms 3 synonyms
  • digestive tract diverticulum inflammation
  • diverticulitis
  • inflammation of digestive tract diverticulum
Mapped terms 10 mapped terms
  • DOID:7475
  • ICD10:K57
  • MESH:D004238
  • MONDO:0004235
  • MeSH:D004238
  • MedDRA:10013538
  • NCIT:C26752
  • SCTID:307496006
  • UMLS:C0012813
  • Wikipedia:Diverticulitis
Child trait(s) appendicitis

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 all PGS for "diverticulitis" and any child terms of this trait in the EFO hierarchy by default.
Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution 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
PGS001369
(GBE_HC1090)
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Acute appendicitis (time-to-event) appendicitis 4
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001369/ScoringFiles/PGS001369.txt.gz
PGS001785
(1kgeur_gbmi_leaveUKBBout_AcApp_pst_eff_a1_b0.5_phiauto)
PGP000262 |
Wang Y et al. medRxiv (2021)
|Pre
Acute appendicitis appendicitis 911,334
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001785/ScoringFiles/PGS001785.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] : 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] : 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] : 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] : 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] : 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
PPM005205 PGS001369
(GBE_HC1090)
PSS004099|
African Ancestry|
6,497 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: TTE acute appendicitis AUROC: 0.62041 [0.53518, 0.70564] : 0.03016
Incremental AUROC (full-covars): -0.00198
PGS R2 (no covariates): 0.00105
PGS AUROC (no covariates): 0.47489 [0.37525, 0.57453]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM005206 PGS001369
(GBE_HC1090)
PSS004100|
East Asian Ancestry|
1,704 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: TTE acute appendicitis AUROC: 0.8493 [0.77779, 0.9208] : 0.14577
Incremental AUROC (full-covars): 0.00105
PGS R2 (no covariates): 0.00332
PGS AUROC (no covariates): 0.51032 [0.33889, 0.68176]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM005207 PGS001369
(GBE_HC1090)
PSS004101|
European Ancestry|
24,905 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: TTE acute appendicitis AUROC: 0.56849 [0.52835, 0.60862] : 0.00702
Incremental AUROC (full-covars): -0.00219
PGS R2 (no covariates): 0.0
PGS AUROC (no covariates): 0.49616 [0.45378, 0.53854]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM005208 PGS001369
(GBE_HC1090)
PSS004102|
South Asian Ancestry|
7,831 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: TTE acute appendicitis AUROC: 0.72977 [0.65912, 0.80042] Incremental AUROC (full-covars): 0.00039
PGS R2 (no covariates): 0.00096
: 0.05613
PGS AUROC (no covariates): 0.5334 [0.44427, 0.62254]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM005209 PGS001369
(GBE_HC1090)
PSS004103|
European Ancestry|
67,425 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: TTE acute appendicitis AUROC: 0.57413 [0.55138, 0.59688] : 0.00617
Incremental AUROC (full-covars): 0.00987
PGS R2 (no covariates): 0.00332
PGS AUROC (no covariates): 0.55036 [0.52746, 0.57326]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009289 PGS001785
(1kgeur_gbmi_leaveUKBBout_AcApp_pst_eff_a1_b0.5_phiauto)
PSS007708|
European Ancestry|
359,031 individuals
PGP000262 |
Wang Y et al. medRxiv (2021)
|Pre
Reported Trait: Acute appendicitis AUROC: 0.584 Nagelkerke's R2 (covariates regressed out): 0.00406 sex,age,age2,age*sex,age^2*sex, 20PCs

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
PSS007708
[
  • 2,985 cases
  • , 356,045 controls
]
European UKB
PSS004099
[
  • 35 cases
  • , 6,462 controls
]
African unspecified UKB
PSS004100
[
  • 9 cases
  • , 1,695 controls
]
East 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)
PSS004101
[
  • 190 cases
  • , 24,715 controls
]
European non-white British ancestry UKB
PSS004102
[
  • 37 cases
  • , 7,794 controls
]
South Asian UKB
PSS004103
[
  • 612 cases
  • , 66,813 controls
]
European white British ancestry UKB Testing cohort (heldout set)