Polygenic Score (PGS) ID: PGS000146

Predicted Trait
Reported Trait Colorectal cancer
Mapped Trait(s) colorectal cancer (MONDO_0005575)
Released in PGS Catalog: April 29, 2020
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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 CRC_GRS_27
Development Method
Name Genome-wide significant variants
Parameters LD r2 > 0.5
Variants
Original Genome Build hg19
Number of Variants 27
Effect Weight Type log(OR)
PGS Source
PGS Catalog Publication (PGP) ID PGP000069
Citation (link to publication) Hsu L et al. Gastroenterology (2015)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 90.5%
East Asian: 7.4%
Not Reported: 2.1%
106,056 individuals (100%)
PGS Evaluation
European: 100%
8 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
GWAS Catalog: GCST000169
Europe PMC: 18372905
 1,849 individuals European CoRGI
GWAS Catalog: GCST001544
Europe PMC: 22634755
 17,780 individuals European COGS, CoRGI, NSCCG, SOCCS, VICTOR
GWAS Catalog: GCST001161
Europe PMC: 21761138
 6,322 individuals European NR
GWAS Catalog: GCST000052
Europe PMC: 17618283
 2,194 individuals NR NR
GWAS Catalog: GCST000053
Europe PMC: 17618284
 1,890 individuals European CoRGI
GWAS Catalog: GCST000168
Europe PMC: 18372901
 1,983 individuals European
(U.K.)		 NR
GWAS Catalog: GCST000843
Europe PMC: 20972440
 30,420 individuals European NR
GWAS Catalog: GCST000843
Europe PMC: 20972440
 7,962 individuals European NR
GWAS Catalog: GCST001787
Europe PMC: 23266556
 27,809 individuals European NR
GWAS Catalog: GCST001792
Europe PMC: 23263487
 7,847 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
PPM000439 PSS000252|
European Ancestry|
3,269 individuals
 PGP000069 |
Hsu L et al. Gastroenterology (2015)
 Reported Trait: Distal colon cancer OR: 1.08 [1.06, 1.11] — — Study, age, endoscopy, family history —
PPM000438 PSS000254|
European Ancestry|
3,292 individuals
 PGP000069 |
Hsu L et al. Gastroenterology (2015)
 Reported Trait: Proximal colon cancer OR: 1.07 [1.04, 1.1] — — Study, age, endoscopy, family history —
PPM000445 PSS000257|
European Ancestry|
733 individuals
 PGP000069 |
Hsu L et al. Gastroenterology (2015)
 Reported Trait: Colorectal cancer — AUROC: 0.56 [0.51, 0.61] — Age, endoscopy, family history —
PPM000444 PSS000258|
European Ancestry|
1,002 individuals
 PGP000069 |
Hsu L et al. Gastroenterology (2015)
 Reported Trait: Colorectal cancer — AUROC: 0.59 [0.54, 0.64] — Age, endoscopy, family history —
PPM000443 PSS000255|
European Ancestry|
4,573 individuals
 PGP000069 |
Hsu L et al. Gastroenterology (2015)
 Reported Trait: Rectal cancer OR: 1.12 [1.08, 1.15] — — Study, age, endoscopy, family history —
PPM000442 PSS000251|
European Ancestry|
4,886 individuals
 PGP000069 |
Hsu L et al. Gastroenterology (2015)
 Reported Trait: Distal colon cancer OR: 1.08 [1.05, 1.1] — — Study, age, endoscopy, family history —
PPM000441 PSS000253|
European Ancestry|
5,530 individuals
 PGP000069 |
Hsu L et al. Gastroenterology (2015)
 Reported Trait: Proximal colon cancer OR: 1.06 [1.03, 1.08] — — Study, age, endoscopy, family history —
PPM000440 PSS000256|
European Ancestry|
3,167 individuals
 PGP000069 |
Hsu L et al. Gastroenterology (2015)
 Reported Trait: Rectal cancer OR: 1.06 [1.03, 1.09] — — Study, age, endoscopy, family history —

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
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
]
,
100.0 % 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
]
,
100.0 % 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
]
,
100.0 % 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
]
,
100.0 % Male samples
 — European — 6 cohorts
  • DACHS
  • ,DALS
  • ,HPFS
  • ,NHS
  • ,VITAL
  • ,WHI
 Training and test split not relevant to PGS