Polygenic Score (PGS) ID: PGS000150

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

Score Construction
PGS Name GRS48
Variants
Original Genome Build NR
Number of Variants 48
Development Method
Name GWAS-significant SNPs
Parameters NR
PGS Source
PGS Catalog Publication (PGP) ID PGP000073
Citation (link to publication) Weigl K et al. Gastroenterology (2018)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 93.4%
East Asian: 5.2%
Not Reported: 1%
Additional Diverse Ancestries: 0.4%
219,571 individuals (100%)
PGS Evaluation
European: 100%
2 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry
GWAS Catalog: GCST002919
Europe PMC: 25990418
17,556 individuals European
GWAS Catalog: GCST001544
Europe PMC: 22634755
17,780 individuals European
GWAS Catalog: GCST000843
Europe PMC: 2097244
30,420 individuals European
GWAS Catalog: GCST000843
Europe PMC: 2097244
7,962 individuals European
GWAS Catalog: GCST000169
Europe PMC: 18372905
1,849 individuals European
GWAS Catalog: GCST000053
Europe PMC: 17618284
1,890 individuals European
GWAS Catalog: GCST000948
Europe PMC: 2124226
3,481 individuals East Asian
GWAS Catalog: GCST000052
Europe PMC: 17618283
2,194 individuals NR
GWAS Catalog: GCST000168
Europe PMC: 18372901
1,983 individuals European
(U.K.)
GWAS Catalog: GCST000113
Europe PMC: 17934461
1,890 individuals European
GWAS Catalog: GCST001787
Europe PMC: 23266556
27,809 individuals European
GWAS Catalog: GCST002411
Europe PMC: 24737748
13,443 individuals European
GWAS Catalog: GCST000843
Europe PMC: 2097244
30,420 individuals European
GWAS Catalog: GCST000843
Europe PMC: 2097244
7,962 individuals European
GWAS Catalog: GCST003017
Europe PMC: 26151821
37,955 individuals European
GWAS Catalog: GCST002512
Europe PMC: 2497848
1,281 individuals European
(Spain)
GWAS Catalog: GCST002528
Europe PMC: 25023989
983 individuals Other
GWAS Catalog: GCST002528
Europe PMC: 25023989
2,976 individuals European
GWAS Catalog: GCST001792
Europe PMC: 23263487
7,847 individuals East Asian
GWAS Catalog: GCST000113
Europe PMC: 17934461
1,890 individuals European

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
PPM000469 PSS000269|
European Ancestry|
749 individuals
PGP000073 |
Weigl K et al. Gastroenterology (2018)
Reported Trait: advanced neoplasm (colorectal cancer) C-index: 0.615 Odds Ratio (OR; highest vs. lowest tertile of GRS): 2.74 [1.84, 4.09] sex, age, previous colonoscopy, physical activity
PPM000468 PSS000269|
European Ancestry|
749 individuals
PGP000073 |
Weigl K et al. Gastroenterology (2018)
Reported Trait: advanced neoplasm (colorectal cancer) C-index: 0.599 Odds Ratio (OR; highest vs. lowest tertile of GRS): 2.64 [1.77, 3.92] sex, age
PPM000467 PSS000268|
European Ancestry|
1,043 individuals
PGP000073 |
Weigl K et al. Gastroenterology (2018)
Reported Trait: non-advanced adenoma (colorectal) C-index: 0.596 Odds Ratio (OR; highest vs. lowest tertile of GRS): 1.05 [0.7, 1.55] sex, age, previous colonoscopy, physical activity
PPM000466 PSS000268|
European Ancestry|
1,043 individuals
PGP000073 |
Weigl K et al. Gastroenterology (2018)
Reported Trait: non-advanced adenoma (colorectal) C-index: 0.584 Odds Ratio (OR; highest vs. lowest tertile of GRS): 1.04 [0.7, 1.55] sex, age

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
PSS000268 Unselected participants of the German screening colonoscopy program are recruited by gastroenterology practices in southern Germany in this multicenter study.Colonoscopy and histology reports are collected and information from these reports is extracted independently in a standardized way by two trained investigators, who are blinded with respect to questionnaire and genotype data and who resolve discrepancies by consensus after further review and discussion. Based on colonoscopy reports, participants are categorized with respect to the most advanced lesion: CRC, advanced adenoma (AA), non-advanced adenoma (NAA), hyperplastic polyp, or undefined polyp. Advanced adenomas are defined as adenomas ≥1 cm or adenomas with cellular or structural atypia.
[
  • 294 cases
  • , 749 controls
]
,
61.74 % Male samples
Range = [50.0, 79.0] years European BLITZ
PSS000269 Unselected participants of the German screening colonoscopy program are recruited by gastroenterology practices in southern Germany in this multicenter study.Colonoscopy and histology reports are collected and information from these reports is extracted independently in a standardized way by two trained investigators, who are blinded with respect to questionnaire and genotype data and who resolve discrepancies by consensus after further review and discussion. Based on colonoscopy reports, participants are categorized with respect to the most advanced lesion: CRC, advanced adenoma (AA), non-advanced adenoma (NAA), hyperplastic polyp, or undefined polyp. Advanced adenomas are defined as adenomas ≥1 cm or adenomas with cellular or structural atypia.
[
  • 249 cases
  • , 500 controls
]
,
60.48 % Male samples
Range = [50.0, 79.0] years European BLITZ