Polygenic Score (PGS) ID: PGS004580

Predicted Trait
Reported Trait Colorectal cancer
Mapped Trait(s) colorectal carcinoma (EFO_1001951)
Released in PGS Catalog: Feb. 20, 2024
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Terms and Licenses
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Score Details

Score Construction
PGS Name CRC_PRSCS
Development Method
Name PRS-CS
Parameters PRS-CS-auto, 1000G European sample (N = 503) as the external LD reference panel
Variants
Original Genome Build GRCh38
Number of Variants 1,099,906
Effect Weight Type beta
PGS Source
PGS Catalog Publication (PGP) ID PGP000562
Citation (link to publication) Youssef O et al. Lab Invest (2024)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 100%
92,967 individuals (100%)
PGS Evaluation
European: 100%
1 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
GWAS Catalog: GCST007992
Europe PMC: 31089142
 92,967 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
PPM020695 PSS011366|
European Ancestry|
342,499 individuals
 PGP000562 |
Youssef O et al. Lab Invest (2024)
 Reported Trait: Colorectal cancer OR: 1.5 [1.46, 1.55] — — — —

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
PSS011366 — —
[
  • 337,041 cases
  • , 5,458 controls
]
,
44.0 % Male samples
 — European
(Finnish)		 — FinnGen —