PGS Publication: PGP000592

Publication Information (EuropePMC)
Title 150 risk variants for diverticular disease of intestine prioritize cell types and enable polygenic prediction of disease susceptibility.
PubMed ID 37492107(Europe PMC)
doi 10.1016/j.xgen.2023.100326
Publication Date June 5, 2023
Journal Cell Genom
Author(s) Wu Y, Goleva SB, Breidenbach LB, Kim M, MacGregor S, Gandal MJ, Davis LK, Wray NR.
Released in PGS Catalog: Feb. 20, 2024

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

PGS Developed By This Publication

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)
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
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
PSS011415 — —
[
  • 760 cases
  • , 11,136 controls
]
,
53.0 % Male samples
 — South Asian — 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 —