Polygenic Score (PGS) ID: PGS004240

Predicted Trait
Reported Trait Colorectal cancer
Mapped Trait(s) colorectal carcinoma (EFO_1001951)
Released in PGS Catalog: Dec. 15, 2023
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Score Details

Score Construction
PGS Name PRS89_CRC
Development Method
Name PRSice-2
Parameters NR
Variants
Original Genome Build NR
Number of Variants 89
Effect Weight Type log(OR)
PGS Source
PGS Catalog Publication (PGP) ID PGP000541
Citation (link to publication) Fan L et al. Int J Cancer (2023)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 95.8%
East Asian: 4.2%
125,478 individuals (100%)
PGS Evaluation
Multi-ancestry (including European): 100%
  • European
  • Additional Asian Ancestries
  • African
  • East Asian
  • Not Reported
2 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
GWAS Catalog: GCST007856
Europe PMC: 30510241
 120,184 individuals European NR
GWAS Catalog: GCST007856
Europe PMC: 30510241
 5,294 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
PPM020292 PSS011326|
Multi-ancestry (including European)|
3,809 individuals
 PGP000541 |
Fan L et al. Int J Cancer (2023)
 Reported Trait: Colorectal cancer — — Hazard ratio (HR, high vs low PRS tertile): 2.51 [2.04, 3.09] Age, sex, red meat intake, BMI, family history of CRC, smoking status, alcohol intake, townsend deprivation index, race, education (College or University degree, vocational qualifications, optional national exams at ages 17 to 18 years, national exams at age 16 years, none of the above, unknown), other common diseases (hypertension, heart diseases, diabetes) —
PPM020293 PSS011327|
Multi-ancestry (including European)|
125,021 individuals
 PGP000541 |
Fan L et al. Int J Cancer (2023)
 Reported Trait: Colorectal cancer — — Hazard ratio (HR, high vs low PRS tertile): 2.48 [2.11, 2.91] Age, sex, red meat intake, BMI, family history of CRC, smoking status, alcohol intake, townsend deprivation index, race, education (College or University degree, vocational qualifications, optional national exams at ages 17 to 18 years, national exams at age 16 years, none of the above, unknown), other common diseases (hypertension, heart diseases, diabetes) —
PPM020294 PSS011327|
Multi-ancestry (including European)|
125,021 individuals
 PGP000541 |
Fan L et al. Int J Cancer (2023)
 Reported Trait: Colorectal cancer x Saturated fatty acids interaction HR: 1.14 [1.11, 1.18] — — Age, sex, race, BMI, family history, red meat intake, smoking status, alcohol intake, townsend deprivation index, education level, other common diseases (hypertension, heart diseases, diabetes) —
PPM020295 PSS011326|
Multi-ancestry (including European)|
3,809 individuals
 PGP000541 |
Fan L et al. Int J Cancer (2023)
 Reported Trait: Colorectal cancer x Saturated fatty acids interaction HR: 1.17 [1.12, 1.22] — — Age, sex, race, BMI, family history, red meat intake, smoking status, alcohol intake, townsend deprivation index, education level, other common diseases (hypertension, heart diseases, diabetes) —
PPM020296 PSS011327|
Multi-ancestry (including European)|
125,021 individuals
 PGP000541 |
Fan L et al. Int J Cancer (2023)
 Reported Trait: Colorectal cancer (with saturated fatty acid and clinical risk factors) — AUROC: 0.734 [0.72, 0.749] — Age, sex, race, BMI, family history, red meat intake, smoking status, alcohol intake, townsend deprivation index, education level, other common diseases (hypertension, heart diseases, diabetes) —
PPM020297 PSS011326|
Multi-ancestry (including European)|
3,809 individuals
 PGP000541 |
Fan L et al. Int J Cancer (2023)
 Reported Trait: Colorectal cancer (with saturated fatty acid and clinical risk factors) — AUROC: 0.662 [0.64, 0.683] — Age, sex, race, BMI, family history, red meat intake, smoking status, alcohol intake, townsend deprivation index, education level, other common diseases (hypertension, heart diseases, diabetes) —

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
PSS011326 — —
[
  • 751 cases
  • , 3,058 controls
]
,
56.4 % Male samples
 Mean = 60.9 years
Sd = 6.15 years		 European, Asian unspecified, African unspecified, East Asian, Not reported European (>97%), Asian unspecified, African unspecified, East Asian, Not reported UKB —
PSS011327 — —
[
  • 1,031 cases
  • , 123,990 controls
]
,
44.9 % Male samples
 Mean = 54.9 years
Sd = 7.9 years		 European, Asian unspecified, African unspecified, East Asian, Not reported European (>95%), Asian unspecified, African unspecified, East Asian, Not reported UKB —