Polygenic Score (PGS) ID: PGS003395

Predicted Trait
Reported Trait Colorectal cancer
Mapped Trait(s) colorectal cancer (MONDO_0005575)
Released in PGS Catalog: Feb. 8, 2023
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Score Details

Score Construction
PGS Name PRScsx_CRC
Development Method
Name PRS-CSx
Parameters PRS-CSx with --auto and --meta options
Variants
Original Genome Build GRCh37
Number of Variants 1,145,689
Effect Weight Type beta
PGS Source
PGS Catalog Publication (PGP) ID PGP000414
Citation (link to publication) Xin J et al. Genome Med (2023)
Ancestry Distribution
Source of Variant
Associations (GWAS)
East Asian: 65.6%
European: 34.4%
324,079 individuals (100%)
PGS Evaluation
European: 66.7%
East Asian: 33.3%
3 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
Europe PMC: 30859566
[
  • 4,410 cases
  • , 5,411 controls
]
 East Asian
(Chinese)		 NR
GWAS Catalog: GCST90013697
Europe PMC: 32514122
 202,807 individuals East Asian NR
GWAS Catalog: GCST001787
[
  • 21,608 cases
  • , 20,278 controls
]
 European NR
Europe PMC: 26238115
[
  • 2,065 cases
  • , 67,500 controls
]
 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
PPM016277 PSS010093|
East Asian Ancestry|
2,179 individuals
 PGP000414 |
Xin J et al. Genome Med (2023)
 Reported Trait: Incident colorectal cancer OR: 1.73 [1.56, 1.91] AUROC: 0.646 — sex, age and principal components —
PPM016278 PSS010092|
European Ancestry|
2,573 individuals
 PGP000414 |
Xin J et al. Genome Med (2023)
 Reported Trait: Incident colorectal cancer OR: 1.48 [1.36, 1.62] AUROC: 0.608 — sex, age and principal components —
PPM016279 PSS010094|
European Ancestry|
355,543 individuals
 PGP000414 |
Xin J et al. Genome Med (2023)
 Reported Trait: Incident colorectal cancer HR: 1.42 [1.37, 1.48] AUROC: 0.597 — sex, age, center and principal components —

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
PSS010092 — —
[
  • 1,289 cases
  • , 1,284 controls
]
 — European — CORSA —
PSS010093 — —
[
  • 727 cases
  • , 1,452 controls
]
 — East Asian
(Chinese)		 — NR JSCRC
PSS010094 — — 355,543 individuals — European — UKB —