Polygenic Score (PGS) ID: PGS005162

Predicted Trait
Reported Trait Colorectal cancer
Mapped Trait(s) colorectal carcinoma (EFO_1001951)
Released in PGS Catalog: March 17, 2025
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Score Details

Score Construction
PGS Name PRS-CRC
Development Method
Name PRS-CSx
Parameters MAF≥0.01, INFO≥0.3, and P<0.05
Variants
Original Genome Build GRCh37
Number of Variants 11,462
Effect Weight Type beta
PGS Source
PGS Catalog Publication (PGP) ID PGP000711
Citation (link to publication) Zhu M et al. PLoS Med (2025)
Ancestry Distribution
Source of Variant
Associations (GWAS)
East Asian: 83.6%
European: 16.4%
422,482 individuals (100%)
PGS Evaluation
East Asian: 100%
1 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
GWAS Catalog: GCST90018588
Europe PMC: 34594039
 167,691 individuals East Asian BBJ
GWAS Catalog: GCST90129505
Europe PMC: 36539618
 69,175 individuals European 7 cohorts
  • ACCC
  • ,CCFR
  • ,COGENT
  • ,CORECT
  • ,FINRISK
  • ,GECCO
  • ,UKB
GWAS Catalog: GCST90129505
Europe PMC: 36539618
 185,616 individuals East Asian 7 cohorts
  • ACCC
  • ,CCFR
  • ,COGENT
  • ,CORECT
  • ,FINRISK
  • ,GECCO
  • ,UKB

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
PPM022399 PSS011936|
East Asian Ancestry|
100,219 individuals
 PGP000711 |
Zhu M et al. PLoS Med (2025)
 Reported Trait: Colorectal Cancer HR: 1.54 [1.43, 1.66]
β: 0.432		 C-index: 0.612 — Age,Sex (if applicable),Region,Top 10 genetic ancestry principal components The HR and C-index values were derived from Cox proportional hazards regression models.

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
PSS011936 ICD-10: C18-20 Median = 11.33 years
Range = [10.18, 12.26] years
[
  • 740 cases
  • , 99,479 controls
]
,
42.8 % Male samples
 Mean = 53.69 years
Sd = 11.01 years		 East Asian
(Chinese)		 — CKB —