Polygenic Score (PGS) ID: PGS000802

Predicted Trait
Reported Trait Colorectal cancer
Mapped Trait(s) colorectal cancer (MONDO_0005575)
Released in PGS Catalog: June 11, 2021
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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 CRC_19
Development Method
Name LASSO penalized regression
Parameters 10-fold cross-validation, lambda (λ) = 0.012, r^2 < 0.20
Variants
Original Genome Build NR
Number of Variants 19
Effect Weight Type NR
PGS Source
PGS Catalog Publication (PGP) ID PGP000191
Citation (link to publication) He CY et al. Genomics (2021)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 63.6%
East Asian: 36.4%
111,769 individuals (100%)
Score Development/Training
East Asian: 100%
5,606 individuals (100%)
PGS Evaluation
East Asian: 100%
3 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
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Study Identifiers
Sample Numbers
Sample Ancestry
Cohort(s)
Europe PMC: 21655089
[
  • 8,021 cases
  • , 9,253 controls
]
European8 cohorts
  • B58C
  • ,CoRGI
  • ,EPICOLON
  • ,FCCPS
  • ,NSCCG
  • ,QUASAR2
  • ,SEARCH
  • ,VICTOR
GWAS Catalog: GCST000113
Europe PMC: 17934461
1,890 individualsEuropeanCoRGI
GWAS Catalog: GCST000948
Europe PMC: 21242260
3,481 individualsEast AsianBBJ, O-MRC
GWAS Catalog: GCST001161
Europe PMC: 21761138
6,322 individualsEuropeanCCFR, DALS, PLCO, WHI
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 AsianAichi_Con, Guangzhou, KCPS, Shanghai
GWAS Catalog: GCST002454
Europe PMC: 24836286
8,270 individualsEast AsianAichi_Con, Guangzhou, KCPS, Shanghai
GWAS Catalog: GCST003799
Europe PMC: 26965516
21,096 individualsEast AsianBBJ, Guangzhou, KCPS, Shanghai
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Score Development/Training
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Study Identifiers
Sample Numbers
Sample Ancestry
Cohort(s)
Phenotype Definitions & Methods
Age of Study Participants
Participant Follow-up Time
Additional Ancestry Description
Additional Sample/Cohort Information
[
  • 2,557 cases
  • , 3,049 controls
]
,
54.07 % Male samples
East Asian
(Han-Chinese)
NRExclusion criteria for healthy controls included subjects with polyposis, adenomas, and diseases rel... ated to or causing a predisposition for cancer. Cases included subjects with colorectal cancer, confirmed by endoscopic and histological examinations.Show moreSubjects obtained from Sun Yat-Sen University Cancer Center (SYSUCC)
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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
PPM002094PSS001033|
East Asian Ancestry|
5,465 individuals
PGP000191 |
He CY et al. Genomics (2021)
Reported Trait: Colorectal cancerAUROC: 0.59 [0.57, 0.6]Possible overlap with score development samples
PPM002095PSS001032|
East Asian Ancestry|
2,566 individuals
PGP000191 |
He CY et al. Genomics (2021)
Reported Trait: Colorectal cancerAUROC: 0.61 [0.59, 0.63]
PPM002096PSS001031|
East Asian Ancestry|
2,269 individuals
PGP000191 |
He CY et al. Genomics (2021)
Reported Trait: Colorectal cancerAUROC: 0.59 [0.57, 0.61]
PPM002097PSS001033|
East Asian Ancestry|
5,465 individuals
PGP000191 |
He CY et al. Genomics (2021)
Reported Trait: Colorectal cancerOdds Ratio (OR, top 75% vs bottom 25%): 2.27 [1.95, 2.64]Gender, agepossible overlap with score development samples
PPM002098PSS001032|
East Asian Ancestry|
2,566 individuals
PGP000191 |
He CY et al. Genomics (2021)
Reported Trait: Colorectal cancerOdds Ratio (OR, top 75% vs bottom 25%): 2.53 [1.99, 3.22]Gender, age
PPM002099PSS001031|
East Asian Ancestry|
2,269 individuals
PGP000191 |
He CY et al. Genomics (2021)
Reported Trait: Colorectal cancerOdds Ratio (OR, top 75% vs bottom 25%): 2.12 [1.63, 2.77]Gender, age
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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
PSS001031Exclusion criteria for healthy controls included subjects with polyposis, adenomas, and diseases rel... ated to or causing a predisposition for cancer. Cases included subjects with colorectal cancer, confirmed by endoscopic and histological examinations.Show more
[
  • 1,027 cases
  • , 1,242 controls
]
,
51.39 % Male samples
East Asian
(Han-Chinese)
NRSubects obtained from First Hospital of China Medical University (CMU)
PSS001032Exclusion criteria for healthy controls included subjects with polyposis, adenomas, and diseases rel... ated to or causing a predisposition for cancer. Cases included subjects with colorectal cancer, confirmed by endoscopic and histological examinations.Show more
[
  • 1,152 cases
  • , 1,414 controls
]
,
53.86 % Male samples
East Asian
(Han-Chinese)
NRSubjects obtained from Fudan University Shanghai Cancer Center (FUSCC)
PSS001033Exclusion criteria for healthy controls included subjects with polyposis, adenomas, and diseases rel... ated to or causing a predisposition for cancer. Cases included subjects with colorectal cancer, confirmed by endoscopic and histological examinations.Show more
[
  • 2,448 cases
  • , 3,017 controls
]
,
53.72 % Male samples
East Asian
(Han-Chinese)
NRSubjects obtained from Sun Yat-Sen University Cancer Center (SYSUCC)
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