Polygenic Score (PGS) ID: PGS004904

Predicted Trait
Reported Trait Colorectal cancer
Mapped Trait(s) colorectal carcinoma (EFO_1001951)
Released in PGS Catalog: May 22, 2024
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Score Details

Score Construction
PGS Name PRS127_CRC
Development Method
Name Genome-wide significant SNPs
Parameters p<5E-08, r2 > .001
Variants
Original Genome Build NR
Number of Variants 127
Effect Weight Type beta
PGS Source
PGS Catalog Publication (PGP) ID PGP000636
Citation (link to publication) Jiang F et al. Int J Cancer (2023)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 97.6%
East Asian: 2.4%
218,445 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: GCST007856
Europe PMC: 30510241
 120,184 individuals European NR
GWAS Catalog: GCST007856
Europe PMC: 30510241
 5,294 individuals East Asian NR
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
PPM021341 PSS011697|
European Ancestry|
113,256 individuals
 PGP000636 |
Jiang F et al. Int J Cancer (2023)
 Reported Trait: Incident and prevelant early-onset colorectal cancer OR: 2.29 [1.98, 2.64] — — Age, sex, education, family history, type 1 diabetes, 5 PCs —
PPM021342 PSS011697|
European Ancestry|
113,256 individuals
 PGP000636 |
Jiang F et al. Int J Cancer (2023)
 Reported Trait: Incident early-onset colorectal cancer OR: 2.51 [1.77, 3.56] — — Age, sex, education, family history, type 1 diabetes, 5 PCs —
PPM021343 PSS011697|
European Ancestry|
113,256 individuals
 PGP000636 |
Jiang F et al. Int J Cancer (2023)
 Reported Trait: Incident and prevelant early-onset colorectal adenoma OR: 1.59 [1.48, 1.71] — — Age, sex, education, family history, type 1 diabetes, 5 PCs —
PPM021344 PSS011697|
European Ancestry|
113,256 individuals
 PGP000636 |
Jiang F et al. Int J Cancer (2023)
 Reported Trait: Incident early-onset colorectal adenoma OR: 1.57 [1.39, 1.77] — — Age, sex, education, family history, type 1 diabetes, 5 PCs —

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
PSS011697 — — 113,256 individuals — European — UKB —