Polygenic Score (PGS) ID: PGS000149

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 CRC41
Development Method
Name Genome-wide significant variants
Parameters SNPs assembled by Peters et al. Gut (2015; PMID: 26187503)
Variants
Original Genome Build NR
Number of Variants 41
Effect Weight Type log(OR)
PGS Source
PGS Catalog Publication (PGP) ID PGP000072
Citation (link to publication) Smith T et al. Br J Cancer (2018)
Ancestry Distribution
PGS Evaluation
European: 100%
2 Sample Sets

Development Samples

No sample information available.

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
PPM000464 PSS000263|
European Ancestry|
286,877 individuals
PGP000072 |
Smith T et al. Br J Cancer (2018)
Reported Trait: Incident colorectal cancer in individuals with a family history C-index: 0.68 [0.67, 0.7] Wells et al. model (age, diabetes, multi-vitamin usage, family history of colon cancer, years of education, body mass index, alcohol intake, physical activity, non-steroidal anti-inflammatory drug usage, red meat intake, smoking and oestrogen use [women only]) Fully recalibrated model
PPM000463 PSS000263|
European Ancestry|
286,877 individuals
PGP000072 |
Smith T et al. Br J Cancer (2018)
Reported Trait: Incident colorectal cancer C-index: 0.68 [0.67, 0.7] Wells et al. model (age, diabetes, multi-vitamin usage, family history of colon cancer, years of education, body mass index, alcohol intake, physical activity, non-steroidal anti-inflammatory drug usage, red meat intake, smoking and oestrogen use [women only]) Fully recalibrated model
PPM000459 PSS000262|
European Ancestry|
361,543 individuals
PGP000072 |
Smith T et al. Br J Cancer (2018)
Reported Trait: Incident colorectal cancer in individuals without a family history C-index: 0.66 [0.62, 0.69] Taylor et al. model (age-specific rates of CRC with estimated relative risks for different degrees of CRC family history) Fully recalibrated model
PPM000458 PSS000262|
European Ancestry|
361,543 individuals
PGP000072 |
Smith T et al. Br J Cancer (2018)
Reported Trait: Incident colorectal cancer in individuals with a family history C-index: 0.69 [0.67, 0.7] Taylor et al. model (age-specific rates of CRC with estimated relative risks for different degrees of CRC family history) Fully recalibrated model
PPM000457 PSS000262|
European Ancestry|
361,543 individuals
PGP000072 |
Smith T et al. Br J Cancer (2018)
Reported Trait: Incident colorectal cancer C-index: 0.68 [0.67, 0.7] Taylor et al. model (age-specific rates of CRC with estimated relative risks for different degrees of CRC family history) Fully recalibrated model
PPM000465 PSS000263|
European Ancestry|
286,877 individuals
PGP000072 |
Smith T et al. Br J Cancer (2018)
Reported Trait: Incident colorectal cancer in individuals without a family history C-index: 0.67 [0.63, 0.71] Wells et al. model (age, diabetes, multi-vitamin usage, family history of colon cancer, years of education, body mass index, alcohol intake, physical activity, non-steroidal anti-inflammatory drug usage, red meat intake, smoking and oestrogen use [women only]) Fully recalibrated model
PPM000462 PSS000263|
European Ancestry|
286,877 individuals
PGP000072 |
Smith T et al. Br J Cancer (2018)
Reported Trait: Incident colorectal cancer in individuals without a family history C-index: 0.57 [0.53, 0.6]
PPM000461 PSS000263|
European Ancestry|
286,877 individuals
PGP000072 |
Smith T et al. Br J Cancer (2018)
Reported Trait: Incident colorectal cancer in individuals with a family history C-index: 0.56 [0.55, 0.58]
PPM000460 PSS000263|
European Ancestry|
286,877 individuals
PGP000072 |
Smith T et al. Br J Cancer (2018)
Reported Trait: Incident colorectal cancer C-index: 0.57 [0.55, 0.58]
PPM000456 PSS000262|
European Ancestry|
361,543 individuals
PGP000072 |
Smith T et al. Br J Cancer (2018)
Reported Trait: Incident colorectal cancer in individuals without a family history C-index: 0.55 [0.52, 0.59]
PPM000455 PSS000262|
European Ancestry|
361,543 individuals
PGP000072 |
Smith T et al. Br J Cancer (2018)
Reported Trait: Incident colorectal cancer in individuals with a family history C-index: 0.57 [0.55, 0.58]
PPM000454 PSS000262|
European Ancestry|
361,543 individuals
PGP000072 |
Smith T et al. Br J Cancer (2018)
Reported Trait: Incident colorectal cancer C-index: 0.56 [0.55, 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
PSS000262 Excluding participants with prevalent cancer at recruitment colorectal cancer was defined as ICD codes: C18 (except C18.1, Appendix), C19 and C20
[
  • 1,623 cases
  • , 359,920 controls
]
,
45.0 % Male samples
Mean = 57.0 years
IQR = [50.0, 63.0] years
European UKB Follow-up time = 1,751,445 person years
PSS000263 Excluding participants with prevalent cancer at recruitment colorectal cancer was defined as ICD codes: C18 (except C18.1, Appendix), C19 and C20
[
  • 1,294 cases
  • , 285,583 controls
]
,
46.0 % Male samples
Mean = 57.0 years
IQR = [50.0, 63.0] years
European UKB Follow-up time = 1,388,191 person years