Polygenic Score (PGS) ID: PGS000150

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

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)

Contributing Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry
GWAS Catalog: GCST002919
EuropePMC: 25990418
17,556 individuals European
GWAS Catalog: GCST000843
EuropePMC: 2097244
30,420 individuals European
GWAS Catalog: GCST000843
EuropePMC: 2097244
7,962 individuals European
GWAS Catalog: GCST000169
EuropePMC: 18372905
1,849 individuals European
GWAS Catalog: GCST000053
EuropePMC: 17618284
1,890 individuals European
GWAS Catalog: GCST000948
EuropePMC: 2124226
3,481 individuals East Asian
GWAS Catalog: GCST000052
EuropePMC: 17618283
2,194 individuals NR
GWAS Catalog: GCST000168
EuropePMC: 18372901
1,983 individuals European
(U.K.)
GWAS Catalog: GCST000113
EuropePMC: 17934461
1,890 individuals European
GWAS Catalog: GCST001787
EuropePMC: 23266556
27,809 individuals European
GWAS Catalog: GCST002411
EuropePMC: 24737748
13,443 individuals European
GWAS Catalog: GCST000843
EuropePMC: 2097244
30,420 individuals European
GWAS Catalog: GCST000843
EuropePMC: 2097244
7,962 individuals European
GWAS Catalog: GCST003017
EuropePMC: 26151821
37,955 individuals European
GWAS Catalog: GCST002512
EuropePMC: 2497848
1,281 individuals European
(Spain)
GWAS Catalog: GCST002528
EuropePMC: 25023989
983 individuals Other
GWAS Catalog: GCST002528
EuropePMC: 25023989
2,976 individuals European
GWAS Catalog: GCST001792
EuropePMC: 23263487
7,847 individuals East Asian
GWAS Catalog: GCST000113
EuropePMC: 17934461
1,890 individuals European
GWAS Catalog: GCST001544
EuropePMC: 22634755
17,780 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 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
PPM000466 PSS000268 PGP000073
Weigl K et al. (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
PPM000467 PSS000268 PGP000073
Weigl K et al. (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
PPM000468 PSS000269 PGP000073
Weigl K et al. (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
PPM000469 PSS000269 PGP000073
Weigl K et al. (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

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
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