Polygenic Score (PGS) ID: PGS000371

Predicted Trait
Reported Trait Colorectal cancer
Mapped Trait(s) colorectal cancer (EFO_0005842)
Additional Trait Information PheCode 153
Released in PGS Catalog: Dec. 15, 2020
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Score Details

Score Construction
PGS Name PRSWEB_PHECODE153_GWAS-Catalog-r2019-05-03-X153_P_5e-08_UKB_20200608
Variants
Original Genome Build GRCh37
Number of Variants 18
Development Method
Name GWAS Hits
Parameters LD Clumping (MAF >= 1%, r^2 <= 0.1) & P<=5e-08
PGS Source
PGS Catalog Publication (PGP) ID PGP000118
Citation (link to publication) Fritsche LG et al. Am J Hum Genet (2020)

Contributing Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry
GWAS Catalog: GCST001787
EuropePMC: 23266556		 27,809 individuals European
GWAS Catalog: GCST002919
EuropePMC: 25990418		 17,556 individuals European
GWAS Catalog: GCST003017
EuropePMC: 26151821		 37,955 individuals European
GWAS Catalog: GCST002411
EuropePMC: 24737748		 13,443 individuals European
GWAS Catalog: GCST000053
EuropePMC: 17618284		 1,890 individuals European
GWAS Catalog: GCST000168
EuropePMC: 18372901		 1,983 individuals European
(U.K.)
GWAS Catalog: GCST000270
EuropePMC: 19011631		 3,831 individuals European
GWAS Catalog: GCST000113
EuropePMC: 17934461		 1,890 individuals European
GWAS Catalog: GCST004895
EuropePMC: 28960316		 15,783 individuals European
Score Development/Training
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
PheCode:153; ICD9:154.8; ICD10:C18.0, C18.1, C18.2, C18.3, C18.4, C18.5, C18.6, C18.7, C18.8, C18.9, C19, C20, C21.0, C21.1, C21.8, C26.0, D01.0, D01.1, D01.2, D01.3 —
[
  • 2,309 cases
  • , 23,074 controls
]
 — European — UKB —

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 ID) 		PGS Sample Set ID
(PSS ID) 		Performance Source Trait PGS Effect Sizes
(per SD change) 		PGS Classification Metrics Other Metrics Covariates Included in the Model PGS Performance: Other Relevant Information
PPM001056 PSS000564 PGP000118
Fritsche LG et al. (2020) 		Reported Trait: Colorectal cancer OR: 1.254 [1.202, 1.309]
β: 0.226 (0.0217)		 AUROC: 0.561 [0.548, 0.573] Nagelkerke's Pseudo-R²: 0.00946
Brier score: 0.0822
Odds Ratio (OR, top 1% vs. Rest): 1.79 [1.28, 2.51]		 age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE153_GWAS-Catalog-r2019-05-03-X153_P_5e-08_UKB_20200608

Evaluated Samples

PGS Sample Set ID
(PSS ID) 		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
PSS000564 PheCode:153; ICD9:154.8; ICD10:C18.0, C18.1, C18.2, C18.3, C18.4, C18.5, C18.6, C18.7, C18.8, C18.9, C19, C20, C21.0, C21.1, C21.8, C26.0, D01.0, D01.1, D01.2, D01.3 —
[
  • 2,271 cases
  • , 22,725 controls
]
 — European — UKB —