Polygenic Score (PGS) ID: PGS000147

Predicted Trait
Reported Trait Colorectal cancer
Mapped Trait(s) colorectal cancer (MONDO_0005575)
Released in PGS Catalog: April 29, 2020
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Score Details

Score Construction
PGS Name CRC21
Development Method
Name GWAS Catalog SNPs (unweighted allele count)
Parameters Variant dosage was calculated as 0, 1, or 2 copies of the risk allele except for the SNP rs5934683 in chromosome X that was coded 0, 0.5, and 1.
Variants
Original Genome Build NR
Number of Variants 21
Effect Weight Type Unweighted
PGS Source
PGS Catalog Publication (PGP) ID PGP000070
Citation (link to publication) Ibáñez-Sanz G et al. Sci Rep (2017)
Ancestry Distribution
Source of Variant
Associations (GWAS)
Not Reported: 100%
PGS Evaluation
European: 100%
1 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
Europe PMC: 30445434
 NR NR 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
PPM000448 PSS000259|
European Ancestry|
4,080 individuals
 PGP000070 |
Ibáñez-Sanz G et al. Sci Rep (2017)
 Reported Trait: Colorectal cancer — AUROC: 0.63 [0.6, 0.66] Odds Ratio (OR; per allele): 1.07 [1.04, 1.1] environmental risk factors ( alcohol consumption, obesity, physical activity, red meat and vegetable consumption, nonsteroidal anti-inflammatory drug use), family history —
PPM000447 PSS000259|
European Ancestry|
4,080 individuals
 PGP000070 |
Ibáñez-Sanz G et al. Sci Rep (2017)
 Reported Trait: Rectal cancer — — Odds Ratio (OR; per allele): 1.1 [1.06, 1.15] environmental risk factors ( alcohol consumption, obesity, physical activity, red meat and vegetable consumption, nonsteroidal anti-inflammatory drug use), family history —
PPM000446 PSS000259|
European Ancestry|
4,080 individuals
 PGP000070 |
Ibáñez-Sanz G et al. Sci Rep (2017)
 Reported Trait: Colon cancer — — Odds Ratio (OR; per allele): 1.06 [1.03, 1.09] environmental risk factors ( alcohol consumption, obesity, physical activity, red meat and vegetable consumption, nonsteroidal anti-inflammatory drug use), family history —
PPM000449 PSS000259|
European Ancestry|
4,080 individuals
 PGP000070 |
Ibáñez-Sanz G et al. Sci Rep (2017)
 Reported Trait: Colorectal cancer — AUROC: 0.56 [0.54, 0.58] — — —

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
PSS000259 — —
[
  • 1,336 cases
  • , 2,744 controls
]
,
57.21 % Male samples
 Range = [25.0, 90.0] years European
(Spanish)		 — MCC-Spain —