Polygenic Score (PGS) ID: PGS000765

Predicted Trait
Reported Trait Colorectal cancer
Mapped Trait(s) colorectal cancer (EFO_0005842)
Released in PGS Catalog: April 28, 2021
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Terms and Licenses
PGS obtained from the Catalog should be cited appropriately, and used in accordance with any licensing restrictions set by the authors. See EBI Terms of Use (https://www.ebi.ac.uk/about/terms-of-use/) for additional details.

Score Details

Score Construction
PGS Name PRS_CRC95
Development Method
Name SNPs associated with colorectal cancer
Parameters Exclusion of variants only reaching suggestive levels of statistical significance.
Variants
Original Genome Build GRCh37
Number of Variants 95
Effect Weight Type beta
PGS Source
PGS Catalog Publication (PGP) ID PGP000170
Citation (link to publication) Huyghe JR et al. Nat Genet (2018)
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
  • African
  • Additional Asian Ancestries
  • Not Reported
  • Additional Diverse Ancestries
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 41 cohorts
  • ASTERISK
  • ,ATBC
  • ,CCFR
  • ,CLUEII
  • ,COLON
  • ,CORSA
  • ,COSM
  • ,CPSII
  • ,ColoCare
  • ,DACHS
  • ,DALS
  • ,EPIC
  • ,EPICOLON
  • ,HCES-CRC
  • ,HPFS
  • ,Hawaiian_Colo2&3
  • ,KIEL
  • ,MCCS
  • ,MEC
  • ,MECC
  • ,MSKCC
  • ,NCCS
  • ,NFCCR
  • ,NHS
  • ,NHS2
  • ,NHS_Ad
  • ,NSHDS
  • ,OFCCR
  • ,Ohio_SU
  • ,PHS
  • ,PLCO
  • ,PMH-CCFR
  • ,SEARCH
  • ,SLRCCSG
  • ,SMC
  • ,SWOG-SELECT
  • ,UKB
  • ,USC-HRT-CRC
  • ,VERDI
  • ,VITAL
  • ,WHI
GWAS Catalog: GCST007856
Europe PMC: 30510241
 5,294 individuals East Asian 41 cohorts
  • ASTERISK
  • ,ATBC
  • ,CCFR
  • ,CLUEII
  • ,COLON
  • ,CORSA
  • ,COSM
  • ,CPSII
  • ,ColoCare
  • ,DACHS
  • ,DALS
  • ,EPIC
  • ,EPICOLON
  • ,HCES-CRC
  • ,HPFS
  • ,Hawaiian_Colo2&3
  • ,KIEL
  • ,MCCS
  • ,MEC
  • ,MECC
  • ,MSKCC
  • ,NCCS
  • ,NFCCR
  • ,NHS
  • ,NHS2
  • ,NHS_Ad
  • ,NSHDS
  • ,OFCCR
  • ,Ohio_SU
  • ,PHS
  • ,PLCO
  • ,PMH-CCFR
  • ,SEARCH
  • ,SLRCCSG
  • ,SMC
  • ,SWOG-SELECT
  • ,UKB
  • ,USC-HRT-CRC
  • ,VERDI
  • ,VITAL
  • ,WHI

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
PPM001961 PSS000981|
Multi-ancestry (including European)|
48,807 individuals
 PGP000171 |
Fahed AC et al. Nat Commun (2020)
|Ext.		 Reported Trait: Prevalent colorectal cancer OR: 1.65 [1.48, 1.85] — — Age, sex, PCs (1-4) —
PPM015518 PSS009971|
Multi-ancestry (including European)|
36,422 individuals
 PGP000381 |
Hao L et al. Nat Med (2022)
|Ext.		 Reported Trait: Colorectal cancer OR: 2.37 [1.74, 3.24] — — 4 genetic PCs —

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
PSS009971 — — 30,716 individuals — European — MGBB —
PSS009971 — — 1,807 individuals — African unspecified
(Black)		 — MGBB —
PSS009971 — — 786 individuals — Asian unspecified — MGBB —
PSS009971 — — 3,113 individuals — Other — MGBB —
PSS000981 Cases were individuals with colorectal cancer based on self-reporting at the baseline (Coding IDs: 10,221,023), primary cause of death (ICD-10) from the death registry (Coding IDsC180,C182,C183,C184,C185,C186,C187,C188,C189), secondary cause of death (ICD-10) from the death registry (Coding IDs: C180,C182,C183,C184,C185,C186,C187,C188,C189), type of cancer (ICD-10) from the cancer registry (Coding IDs: C18,C180,C181,C182,C183,C184,C185,C186,C187,C188,C189,C19,C20,D010,D011,D012,D374,D375, 153,154,1530,1531,1532,1533,1534,1535,1536,1537,1538,1539,1540,1541,1 548,2303,2304), primary diagnoses (ICD-10) from hospitalization records (Coding IDs: C18,C180,C182,C183,C184,C185,C186,C187,C188,C189,C19,C20,D010,D011,D012,D374,D375), primary diagnoses (ICD-9) from hopsitalization records (Coding IDs: 153,154,1530,1532,1533,1534,1536,1537,1539,1540,1541), secondary diagnoses (ICD-10) from hospitalization records (Coding IDs: C18,C180,C182,C183,C184,C185,C186,C187,C188,C189,C19,C20,D010,D011,D012,D374,D375), secondary diagnoses (ICD-9) from hospitialization records (Coding IDs: 153,153,154,1532,1533,1541). Of the total number of cases and controls, 76 were carriers of a pathogenic or likely pathogenic variant in any of the following genes: MLH1, MSH2, MSH6 and PMS2. —
[
  • 303 cases
  • , 45,233 controls
]
 — European — UKB —
PSS000981 Cases were individuals with colorectal cancer based on self-reporting at the baseline (Coding IDs: 10,221,023), primary cause of death (ICD-10) from the death registry (Coding IDsC180,C182,C183,C184,C185,C186,C187,C188,C189), secondary cause of death (ICD-10) from the death registry (Coding IDs: C180,C182,C183,C184,C185,C186,C187,C188,C189), type of cancer (ICD-10) from the cancer registry (Coding IDs: C18,C180,C181,C182,C183,C184,C185,C186,C187,C188,C189,C19,C20,D010,D011,D012,D374,D375, 153,154,1530,1531,1532,1533,1534,1535,1536,1537,1538,1539,1540,1541,1 548,2303,2304), primary diagnoses (ICD-10) from hospitalization records (Coding IDs: C18,C180,C182,C183,C184,C185,C186,C187,C188,C189,C19,C20,D010,D011,D012,D374,D375), primary diagnoses (ICD-9) from hopsitalization records (Coding IDs: 153,154,1530,1532,1533,1534,1536,1537,1539,1540,1541), secondary diagnoses (ICD-10) from hospitalization records (Coding IDs: C18,C180,C182,C183,C184,C185,C186,C187,C188,C189,C19,C20,D010,D011,D012,D374,D375), secondary diagnoses (ICD-9) from hospitialization records (Coding IDs: 153,153,154,1532,1533,1541). Of the total number of cases and controls, 76 were carriers of a pathogenic or likely pathogenic variant in any of the following genes: MLH1, MSH2, MSH6 and PMS2. —
[
  • 6 cases
  • , 993 controls
]
 — African unspecified — UKB —
PSS000981 Cases were individuals with colorectal cancer based on self-reporting at the baseline (Coding IDs: 10,221,023), primary cause of death (ICD-10) from the death registry (Coding IDsC180,C182,C183,C184,C185,C186,C187,C188,C189), secondary cause of death (ICD-10) from the death registry (Coding IDs: C180,C182,C183,C184,C185,C186,C187,C188,C189), type of cancer (ICD-10) from the cancer registry (Coding IDs: C18,C180,C181,C182,C183,C184,C185,C186,C187,C188,C189,C19,C20,D010,D011,D012,D374,D375, 153,154,1530,1531,1532,1533,1534,1535,1536,1537,1538,1539,1540,1541,1 548,2303,2304), primary diagnoses (ICD-10) from hospitalization records (Coding IDs: C18,C180,C182,C183,C184,C185,C186,C187,C188,C189,C19,C20,D010,D011,D012,D374,D375), primary diagnoses (ICD-9) from hopsitalization records (Coding IDs: 153,154,1530,1532,1533,1534,1536,1537,1539,1540,1541), secondary diagnoses (ICD-10) from hospitalization records (Coding IDs: C18,C180,C182,C183,C184,C185,C186,C187,C188,C189,C19,C20,D010,D011,D012,D374,D375), secondary diagnoses (ICD-9) from hospitialization records (Coding IDs: 153,153,154,1532,1533,1541). Of the total number of cases and controls, 76 were carriers of a pathogenic or likely pathogenic variant in any of the following genes: MLH1, MSH2, MSH6 and PMS2. —
[
  • 3 cases
  • , 1,216 controls
]
 — Asian unspecified — UKB —
PSS000981 Cases were individuals with colorectal cancer based on self-reporting at the baseline (Coding IDs: 10,221,023), primary cause of death (ICD-10) from the death registry (Coding IDsC180,C182,C183,C184,C185,C186,C187,C188,C189), secondary cause of death (ICD-10) from the death registry (Coding IDs: C180,C182,C183,C184,C185,C186,C187,C188,C189), type of cancer (ICD-10) from the cancer registry (Coding IDs: C18,C180,C181,C182,C183,C184,C185,C186,C187,C188,C189,C19,C20,D010,D011,D012,D374,D375, 153,154,1530,1531,1532,1533,1534,1535,1536,1537,1538,1539,1540,1541,1 548,2303,2304), primary diagnoses (ICD-10) from hospitalization records (Coding IDs: C18,C180,C182,C183,C184,C185,C186,C187,C188,C189,C19,C20,D010,D011,D012,D374,D375), primary diagnoses (ICD-9) from hopsitalization records (Coding IDs: 153,154,1530,1532,1533,1534,1536,1537,1539,1540,1541), secondary diagnoses (ICD-10) from hospitalization records (Coding IDs: C18,C180,C182,C183,C184,C185,C186,C187,C188,C189,C19,C20,D010,D011,D012,D374,D375), secondary diagnoses (ICD-9) from hospitialization records (Coding IDs: 153,153,154,1532,1533,1541). Of the total number of cases and controls, 76 were carriers of a pathogenic or likely pathogenic variant in any of the following genes: MLH1, MSH2, MSH6 and PMS2. —
[
  • 3 cases
  • , 1,050 controls
]
 — Not reported — UKB —