Polygenic Score (PGS) ID: PGS003850

Predicted Trait
Reported Trait Colorectal cancer
Mapped Trait(s) colorectal cancer (MONDO_0005575)
Released in PGS Catalog: Sept. 1, 2023
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Score Details

Score Construction
PGS Name CRC_PRS_200loci
Development Method
Name Genome-wide significant variants
Parameters NR
Variants
Original Genome Build GRCh37
Number of Variants 205
Effect Weight Type beta
PGS Source
PGS Catalog Publication (PGP) ID PGP000491
Citation (link to publication) Fernandez-Rozadilla C et al. Nat Genet (2022)
Ancestry Distribution
Source of Variant
Associations (GWAS)
East Asian: 72.9%
European: 27.1%
254,791 individuals (100%)
PGS Evaluation
African: 25%
Hispanic or Latin American: 25%
Additional Asian Ancestries: 25%
European: 25%
4 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
GWAS Catalog: GCST90129505
Europe PMC: 36539618
 69,175 individuals European NR
GWAS Catalog: GCST90129505
Europe PMC: 36539618
 185,616 individuals East Asian 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
PPM018677 PSS011062|
Additional Asian Ancestries|
12,025 individuals
 PGP000492 |
Thomas M T et al. medRxiv (2023)
|Ext.|Pre		 Reported Trait: Colorectal cancer OR: 1.3 AUROC: 0.6 [0.59, 0.62] — Age, sex, PCs 1-4 —
PPM018678 PSS011063|
African Ancestry|
13,823 individuals
 PGP000492 |
Thomas M T et al. medRxiv (2023)
|Ext.|Pre		 Reported Trait: Colorectal cancer OR: 1.25 AUROC: 0.58 [0.56, 0.59] — Age, sex, PCs 1-4 —
PPM018679 PSS011064|
Hispanic or Latin American Ancestry|
10,377 individuals
 PGP000492 |
Thomas M T et al. medRxiv (2023)
|Ext.|Pre		 Reported Trait: Colorectal cancer OR: 1.37 AUROC: 0.59 [0.57, 0.6] — Age, sex, PCs 1-4 —
PPM018680 PSS011065|
European Ancestry|
118,756 individuals
 PGP000492 |
Thomas M T et al. medRxiv (2023)
|Ext.|Pre		 Reported Trait: Colorectal cancer OR: 1.62 AUROC: 0.61 [0.6, 0.62] — Age, sex, PCs 1-4 —

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
PSS011062 — —
[
  • 2,420 cases
  • , 9,605 controls
]
,
50.5 % Male samples
 Mean = 64.5 years Asian unspecified — GERA, MG-JPN —
PSS011063 — —
[
  • 1,954 cases
  • , 11,869 controls
]
,
44.0 % Male samples
 Mean = 61.33 years African American or Afro-Caribbean — GERA, MG-AA, eMERGE —
PSS011064 — —
[
  • 1,681 cases
  • , 8,696 controls
]
,
47.5 % Male samples
 Mean = 64.0 years Hispanic or Latin American — GERA, HCCS —
PSS011065 — —
[
  • 3,651 cases
  • , 115,105 controls
]
,
52.75 % Male samples
 Mean = 65.75 years European — BCC, CPSII, GERA, eMERGE —