Polygenic Score (PGS) ID: PGS000146

Predicted Trait
Reported Trait Colorectal cancer risk
Mapped Trait(s) colorectal cancer (EFO_0005842)
Released in PGS: April 29, 2020

Score Details

Score Construction
PGS Name CRC_GRS_27
Variants
Original Genome Build hg19
Number of Variants 27
Development Method
Name GWAS-significant variants
Parameters LD r2 > 0.5
PGS Source
PGS Catalog Publication (PGP) ID PGP000069
Citation (link to publication) Hsu L et al. Gastroenterology (2015)

Contributing Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry
GWAS Catalog: GCST000169
EuropePMC: 18372905
1,849 individuals European
GWAS Catalog: GCST000053
EuropePMC: 17618284
1,890 individuals European
GWAS Catalog: GCST000168
EuropePMC: 18372901
1,983 individuals European
(U.K.)
GWAS Catalog: GCST000843
EuropePMC: 2097244
30,420 individuals European
GWAS Catalog: GCST000843
EuropePMC: 2097244
7,962 individuals European
GWAS Catalog: GCST001544
EuropePMC: 22634755
17,780 individuals European
GWAS Catalog: GCST000052
EuropePMC: 17618283
2,194 individuals NR
GWAS Catalog: GCST001161
EuropePMC: 21761138
6,322 individuals European
GWAS Catalog: GCST001787
EuropePMC: 23266556
27,809 individuals European
GWAS Catalog: GCST001792
EuropePMC: 23263487
7,847 individuals East Asian

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
PPM000439 PSS000252 PGP000069
Hsu L et al. (2015)
Reported Trait: Distal colon cancer OR: 1.08[1.06, 1.11] Study, age, endoscopy, family history
PPM000438 PSS000254 PGP000069
Hsu L et al. (2015)
Reported Trait: Proximal colon cancer OR: 1.07[1.04, 1.1] Study, age, endoscopy, family history
PPM000445 PSS000257 PGP000069
Hsu L et al. (2015)
Reported Trait: Colorectal cancer AUROC: 0.56[0.51, 0.61] Age, endoscopy, family history
PPM000444 PSS000258 PGP000069
Hsu L et al. (2015)
Reported Trait: Colorectal cancer AUROC: 0.59[0.54, 0.64] Age, endoscopy, family history
PPM000443 PSS000255 PGP000069
Hsu L et al. (2015)
Reported Trait: Rectal cancer OR: 1.12[1.08, 1.15] Study, age, endoscopy, family history
PPM000442 PSS000251 PGP000069
Hsu L et al. (2015)
Reported Trait: Distal colon cancer OR: 1.08[1.05, 1.1] Study, age, endoscopy, family history
PPM000441 PSS000253 PGP000069
Hsu L et al. (2015)
Reported Trait: Proximal colon cancer OR: 1.06[1.03, 1.08] Study, age, endoscopy, family history
PPM000440 PSS000256 PGP000069
Hsu L et al. (2015)
Reported Trait: Rectal cancer OR: 1.06[1.03, 1.09] Study, age, endoscopy, family history

Evaluated Samples

PGS Sample Set ID
(PSS ID)
Detailed Phenotype Description Participant Follow-up Time Sample Numbers Age of Study Participants Sample Ancestry Additional Ancestry Description Cohort(s) Additional Sample/Cohort Information
PSS000251 Colorectal adenocarcinoma located in the distal colon confirmed by medical records, pathology reports, or death certificate
[
  • 1,026 cases
  • , 3,860 controls
]
,
0.0 % Male samples
European 6 cohorts
  • DACHS
  • ,DALS
  • ,HPFS
  • ,NHS
  • ,VITAL
  • ,WHI
Training and test split not relevant to PGS
PSS000252 Colorectal adenocarcinoma located in the distal colon confirmed by medical records, pathology reports, or death certificate
[
  • 827 cases
  • , 2,442 controls
]
,
1.0 % Male samples
European 6 cohorts
  • DACHS
  • ,DALS
  • ,HPFS
  • ,NHS
  • ,VITAL
  • ,WHI
Training and test split not relevant to PGS
PSS000253 Colorectal adenocarcinoma located in the proximal colon confirmed by medical records, pathology reports, or death certificate
[
  • 1,670 cases
  • , 3,860 controls
]
,
0.0 % Male samples
European 6 cohorts
  • DACHS
  • ,DALS
  • ,HPFS
  • ,NHS
  • ,VITAL
  • ,WHI
Training and test split not relevant to PGS
PSS000254 Colorectal adenocarcinoma located in the proximal colon confirmed by medical records, pathology reports, or death certificate
[
  • 850 cases
  • , 2,442 controls
]
,
1.0 % Male samples
European 6 cohorts
  • DACHS
  • ,DALS
  • ,HPFS
  • ,NHS
  • ,VITAL
  • ,WHI
Training and test split not relevant to PGS
PSS000255 Colorectal adenocarcinoma located in the rectum confirmed by medical records, pathology reports, or death certificate
[
  • 713 cases
  • , 3,860 controls
]
,
0.0 % Male samples
European 6 cohorts
  • DACHS
  • ,DALS
  • ,HPFS
  • ,NHS
  • ,VITAL
  • ,WHI
Training and test split not relevant to PGS
PSS000256 Colorectal adenocarcinoma located in the rectum confirmed by medical records, pathology reports, or death certificate
[
  • 725 cases
  • , 2,442 controls
]
,
1.0 % Male samples
European 6 cohorts
  • DACHS
  • ,DALS
  • ,HPFS
  • ,NHS
  • ,VITAL
  • ,WHI
Training and test split not relevant to PGS
PSS000257 Colorectal adenocarcinoma confirmed by medical records, pathology reports, or death certificate
[
  • 380 cases
  • , 353 controls
]
,
0.0 % Male samples
European 6 cohorts
  • DACHS
  • ,DALS
  • ,HPFS
  • ,NHS
  • ,VITAL
  • ,WHI
Training and test split not relevant to PGS
PSS000258 Colorectal adenocarcinoma confirmed by medical records, pathology reports, or death certificate
[
  • 486 cases
  • , 516 controls
]
,
1.0 % Male samples
European 6 cohorts
  • DACHS
  • ,DALS
  • ,HPFS
  • ,NHS
  • ,VITAL
  • ,WHI
Training and test split not relevant to PGS