Polygenic Score (PGS) ID: PGS003760

Predicted Trait
Reported Trait Early onset colorectal cancer
Mapped Trait(s) colorectal cancer (MONDO_0005575)
Released in PGS Catalog: Aug. 4, 2023
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Score Details

Score Construction
PGS Name PRS49_EOCRC
Development Method
Name Genome-wide significant SNPs
Parameters r2 ≥ 0.1
Variants
Original Genome Build NR
Number of Variants 49
Effect Weight Type log(OR)
PGS Source
PGS Catalog Publication (PGP) ID PGP000480
Citation (link to publication) Wang H et al. Genome Med (2023)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 100%
21,441 individuals (100%)
PGS Evaluation
Multi-ancestry (including European): 100%
  • European
  • African
  • Additional Asian Ancestries
  • Not Reported
1 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
GWAS Catalog: GCST90271715
Europe PMC: 36869385
 21,441 individuals European GECCO

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
PPM018549 PSS011018|
Multi-ancestry (including European)|
25,150 individuals
 PGP000480 |
Wang H et al. Genome Med (2023)
 Reported Trait: Early onset colorectal cancer — — Odds ratio (OR, Quartile 4 vs Quartile 1): 1.64 [1.32, 2.03] Sex, ethnicity, drinking frequency, smoke status, and family history —

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
PSS011018 — —
[
  • 690 cases
  • , 23,244 controls
]
 — European — UKB —
PSS011018 — —
[
  • 4 cases
  • , 125 controls
]
 — European, African American or Afro-Caribbean, African unspecified, Asian unspecified, NR European and African Caribbean, European and Black African, European and Asian, NR UKB —
PSS011018 — —
[
  • 12 cases
  • , 486 controls
]
 — Asian unspecified — UKB —
PSS011018 — —
[
  • 12 cases
  • , 370 controls
]
 — African unspecified — UKB —
PSS011018 — —
[
  • 5 cases
  • , 202 controls
]
 — Not reported — UKB —