Polygenic Score (PGS) ID: PGS004880

Predicted Trait
Reported Trait Colorectal cancer
Mapped Trait(s) colorectal carcinoma (EFO_1001951)
Released in PGS Catalog: June 27, 2024
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Terms and Licenses
PGS obtained from the Catalog should be cited appropriately, and used in accordance with any licensing restrictions set by the authors. See EBI Terms of Use (https://www.ebi.ac.uk/about/terms-of-use/) for additional details.

Score Details

Score Construction
PGS Name INTERVENE_MegaPRS_Colorectal_cancer
Development Method
Name megaprs.auto
Parameters BayesR, p1=0.93, p2=0.05, p3=0.02, p4=0
Variants
Original Genome Build GRCh37
Number of Variants 843,248
Effect Weight Type beta
PGS Source
PGS Catalog Publication (PGP) ID PGP000618
Citation (link to publication) Jermy B et al. Nat Commun (2024)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 100%
92,967 individuals (100%)
Score Development/Training
European: 100%
404 individuals (100%)
PGS Evaluation
European: 100%
7 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
Score Development/Training
Study Identifiers Sample Numbers Sample Ancestry Cohort(s) Phenotype Definitions & Methods Age of Study Participants Participant Follow-up Time Additional Ancestry Description Additional Sample/Cohort Information
— 404 individuals European 1000G — — — non-Finnish Europeans —

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
PPM021216 PSS011566|
European Ancestry|
38,448 individuals
 PGP000618 |
Jermy B et al. Nat Commun (2024)
 Reported Trait: Incident Colorectal Cancer HR: 1.28 [1.21, 1.35] C-index: 0.57 [0.56, 0.59] — PCs 1-10 —
PPM021217 PSS011565|
European Ancestry|
69,715 individuals
 PGP000618 |
Jermy B et al. Nat Commun (2024)
 Reported Trait: Incident Colorectal Cancer HR: 1.34 [1.27, 1.41] C-index: 0.58 [0.57, 0.6] — PCs 1-10 —
PPM021218 PSS011564|
European Ancestry|
29,427 individuals
 PGP000618 |
Jermy B et al. Nat Commun (2024)
 Reported Trait: Incident Colorectal Cancer HR: 1.44 [1.38, 1.5] C-index: 0.6 [0.59, 0.62] — PCs 1-10 —
PPM021220 PSS011563|
European Ancestry|
7,018 individuals
 PGP000618 |
Jermy B et al. Nat Commun (2024)
 Reported Trait: Incident Colorectal Cancer HR: 1.59 [1.41, 1.79] C-index: 0.64 [0.61, 0.68] — PCs 1-10 —
PPM021221 PSS011561|
European Ancestry|
407,920 individuals
 PGP000618 |
Jermy B et al. Nat Commun (2024)
 Reported Trait: Incident Colorectal Cancer HR: 1.54 [1.5, 1.58] C-index: 0.62 [0.61, 0.63] — PCs 1-10 —
PPM021222 PSS011560|
European Ancestry|
199,868 individuals
 PGP000618 |
Jermy B et al. Nat Commun (2024)
 Reported Trait: Incident Colorectal Cancer HR: 1.44 [1.37, 1.51] C-index: 0.61 [0.59, 0.63] — PCs 1-10 —
PPM021219 PSS011562|
European Ancestry|
44,186 individuals
 PGP000618 |
Jermy B et al. Nat Commun (2024)
 Reported Trait: Incident Colorectal Cancer HR: 1.37 [1.12, 1.68] — — PCs 1-10 —

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
PSS011560 — —
[
  • 1,552 cases
  • , 198,316 controls
]
 — European — EB —
PSS011561 — —
[
  • 5,916 cases
  • , 402,004 controls
]
 — European — FinnGen —
PSS011562 — —
[
  • 101 cases
  • , 44,085 controls
]
 — European — G&H —
PSS011563 — —
[
  • 270 cases
  • , 6,748 controls
]
 — European — GS:SFHS —
PSS011564 — —
[
  • 2,390 cases
  • , 27,037 controls
]
 — European — GEL —
PSS011565 — —
[
  • 1,552 cases
  • , 68,163 controls
]
 — European — HUNT —
PSS011566 — —
[
  • 1,599 cases
  • , 36,849 controls
]
 — European — MGBB —