Polygenic Score (PGS) ID: PGS004614

Predicted Trait
Reported Trait Diverticular disease
Mapped Trait(s) diverticular disease (EFO_0009959)
Released in PGS Catalog: Feb. 20, 2024
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Score Details

Score Construction
PGS Name DivD_SNPWeights
Development Method
Name SBayesR
Parameters NR
Variants
Original Genome Build GRCh37
Number of Variants 1,082,282
Effect Weight Type beta
PGS Source
PGS Catalog Publication (PGP) ID PGP000592
Citation (link to publication) Wu Y et al. Cell Genom (2023)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 100%
454,768 individuals (100%)
PGS Evaluation
African: 33.3%
European: 33.3%
South Asian: 33.3%
3 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
GWAS Catalog: GCST90301393
Europe PMC: 37492107
454,768 individuals European NR

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)
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 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 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 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