Polygenic Score (PGS) ID: PGS000150

Predicted Trait
Reported Trait Colorectal cancer
Mapped Trait(s) colorectal cancer (MONDO_0005575)
Released in PGS Catalog: April 29, 2020
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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 GRS48
Development Method
Name Genome-wide significant variants
Parameters NR
Variants
Original Genome Build NR
Number of Variants 48
Effect Weight Type 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: 91.9%
East Asian: 6.3%
Not Reported: 1.2%
Additional Diverse Ancestries: 0.5%
179,299 individuals (100%)
PGS Evaluation
European: 100%
2 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
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Study Identifiers
Sample Numbers
Sample Ancestry
Cohort(s)
GWAS Catalog: GCST000052
Europe PMC: 17618283
2,194 individualsNRNR
GWAS Catalog: GCST000053
Europe PMC: 17618284
1,890 individualsEuropeanCoRGI
GWAS Catalog: GCST000113
Europe PMC: 17934461
1,890 individualsEuropeanCoRGI
GWAS Catalog: GCST000168
Europe PMC: 18372901
1,983 individualsEuropean
(U.K.)
NR
GWAS Catalog: GCST000169
Europe PMC: 18372905
1,849 individualsEuropeanCoRGI
GWAS Catalog: GCST000843
Europe PMC: 20972440
30,420 individualsEuropeanNR
GWAS Catalog: GCST000843
Europe PMC: 20972440
7,962 individualsEuropeanNR
GWAS Catalog: GCST000948
Europe PMC: 2124226
3,481 individualsEast AsianNR
GWAS Catalog: GCST001544
Europe PMC: 22634755
17,780 individualsEuropeanCOGS, CoRGI, NSCCG, SOCCS, VICTOR
GWAS Catalog: GCST001787
Europe PMC: 23266556
27,809 individualsEuropeanNR
GWAS Catalog: GCST001792
Europe PMC: 23263487
7,847 individualsEast AsianNR
GWAS Catalog: GCST002411
Europe PMC: 24737748
13,443 individualsEuropeanNR
GWAS Catalog: GCST002512
Europe PMC: 2497848
1,281 individualsEuropean
(Spain)
NR
GWAS Catalog: GCST002528
Europe PMC: 25023989
2,976 individualsEuropeanNR
GWAS Catalog: GCST002528
Europe PMC: 25023989
983 individualsOtherCCFR, MECC
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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.

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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
PPM000466PSS000268|
European Ancestry|
1,043 individuals
PGP000073 |
Weigl K et al. Gastroenterology (2018)
Reported Trait: non-advanced adenoma (colorectal)C-index: 0.584Odds Ratio (OR; highest vs. lowest tertile of GRS): 1.04 [0.7, 1.55]sex, age
PPM000467PSS000268|
European Ancestry|
1,043 individuals
PGP000073 |
Weigl K et al. Gastroenterology (2018)
Reported Trait: non-advanced adenoma (colorectal)C-index: 0.596Odds Ratio (OR; highest vs. lowest tertile of GRS): 1.05 [0.7, 1.55]sex, age, previous colonoscopy, physical activity
PPM000468PSS000269|
European Ancestry|
749 individuals
PGP000073 |
Weigl K et al. Gastroenterology (2018)
Reported Trait: advanced neoplasm (colorectal cancer)C-index: 0.599Odds Ratio (OR; highest vs. lowest tertile of GRS): 2.64 [1.77, 3.92]sex, age
PPM000469PSS000269|
European Ancestry|
749 individuals
PGP000073 |
Weigl K et al. Gastroenterology (2018)
Reported Trait: advanced neoplasm (colorectal cancer)C-index: 0.615Odds Ratio (OR; highest vs. lowest tertile of GRS): 2.74 [1.84, 4.09]sex, age, previous colonoscopy, physical activity
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Evaluated Samples

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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
PSS000268Unselected participants of the German screening colonoscopy program are recruited by gastroenterolog... y 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.Show more
[
  • 294 cases
  • , 749 controls
]
,
61.74 % Male samples
Range = [50.0, 79.0] yearsEuropeanBLITZ
PSS000269Unselected participants of the German screening colonoscopy program are recruited by gastroenterolog... y 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.Show more
[
  • 249 cases
  • , 500 controls
]
,
60.48 % Male samples
Range = [50.0, 79.0] yearsEuropeanBLITZ
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