Polygenic Score (PGS) ID: PGS002742

Predicted Trait
Reported Trait Colorectal cancer
Mapped Trait(s) colorectal cancer (MONDO_0005575)
Released in PGS Catalog: Aug. 3, 2022
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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 PRS115_EAS
Development Method
Name Genome-wide significant SNPs
Parameters r2<0.1, MAF>1%
Variants
Original Genome Build hg19
Number of Variants 115
Effect Weight Type log(OR)
PGS Source
PGS Catalog Publication (PGP) ID PGP000354
Citation (link to publication) Ping J et al. Int J Cancer (2022)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 61.9%
East Asian: 36.5%
African: 1.3%
Additional Diverse Ancestries: 0.2%
495,045 individuals (100%)
Score Development/Training
East Asian: 100%
235,188 individuals (100%)
PGS Evaluation
East Asian: 100%
2 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
GWAS Catalog: GCST012879
Europe PMC: 30510241
 32,072 individuals European NR
Europe PMC: 27005424
[
  • 13,656 cases
  • , 21,667 controls
]
 European NR
GWAS Catalog: GCST002528
Europe PMC: 25023989
 983 individuals Other CCFR, MECC
GWAS Catalog: GCST009869
Europe PMC: 31826910
 72,272 individuals East Asian NR
GWAS Catalog: GCST001544
Europe PMC: 22634755
 17,780 individuals European COGS, CoRGI, NSCCG, SOCCS, VICTOR
GWAS Catalog: GCST000168
Europe PMC: 18372901
 1,983 individuals European
(U.K.)		 NR
GWAS Catalog: GCST000270
Europe PMC: 19011631
 3,831 individuals European COGS, CoRGI
GWAS Catalog: GCST002411
Europe PMC: 24737748
 13,443 individuals European NR
GWAS Catalog: GCST000843
Europe PMC: 20972440
 7,962 individuals European 11 cohorts
  • B58C
  • ,COGS
  • ,COIN
  • ,COIN-B
  • ,CoRGI
  • ,FCCPS
  • ,NSCCG
  • ,SEARCH
  • ,SOCCS
  • ,UKBS
  • ,VICTOR
GWAS Catalog: GCST000843
Europe PMC: 20972440
 30,420 individuals European 11 cohorts
  • B58C
  • ,COGS
  • ,COIN
  • ,COIN-B
  • ,CoRGI
  • ,FCCPS
  • ,NSCCG
  • ,SEARCH
  • ,SOCCS
  • ,UKBS
  • ,VICTOR
GWAS Catalog: GCST007992
Europe PMC: 31089142
 92,967 individuals European 6 cohorts
  • GS:SFHS
  • ,LBC
  • ,NSCCG
  • ,SCOT
  • ,SOCCS
  • ,UKB
GWAS Catalog: GCST007552
Europe PMC: 30529582
 70,506 individuals East Asian 8 cohorts
  • Aichi
  • ,BBJ
  • ,Guangzhou
  • ,HCES-CRC
  • ,KCPS
  • ,Korea-NCC
  • ,Korea-Seoul
  • ,Shanghai
GWAS Catalog: GCST002561
Europe PMC: 25105248
 6,424 individuals East Asian 11 cohorts
  • CCFR
  • ,FCCS
  • ,Hawaiian_Colo2&3
  • ,JPHC
  • ,MDACCS
  • ,MEC
  • ,NCCS
  • ,PLCO
  • ,SCCS
  • ,UNC-Rectal
  • ,UNCCanCORS
GWAS Catalog: GCST002561
Europe PMC: 25105248
 6,596 individuals African American or Afro-Caribbean 11 cohorts
  • CCFR
  • ,FCCS
  • ,Hawaiian_Colo2&3
  • ,JPHC
  • ,MDACCS
  • ,MEC
  • ,NCCS
  • ,PLCO
  • ,SCCS
  • ,UNC-Rectal
  • ,UNCCanCORS
GWAS Catalog: GCST003799
Europe PMC: 26965516
 21,096 individuals East Asian BBJ, Guangzhou, KCPS, Shanghai
GWAS Catalog: GCST002528
Europe PMC: 25023989
 2,976 individuals European CCFR, MECC
GWAS Catalog: GCST002454
Europe PMC: 24836286
 8,270 individuals East Asian Aichi_Con, Guangzhou, KCPS, Shanghai
GWAS Catalog: GCST003494
Europe PMC: 27145994
 2,329 individuals East Asian NJ_Study
GWAS Catalog: GCST006131
Europe PMC: 29917119
 67,812 individuals European NR
Score Development/Training
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
—
[
  • 22,702 cases
  • , 212,486 controls
]
 East Asian
(Chinese, Japanese, Korean)		 7 cohorts
  • Aichi
  • ,BBJ
  • ,Guangzhou
  • ,HCES-CRC
  • ,KCPS
  • ,Korea-NCC
  • ,Korea-Seoul
 — — — — Shanghai Studies

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
PPM014906 PSS009924|
East Asian Ancestry|
1,454 individuals
 PGP000354 |
Ping J et al. Int J Cancer (2022)
 Reported Trait: Colorectal cancer OR: 1.63 [1.46, 1.83] AUROC: 0.63 [0.6, 0.66] — — —
PPM014909 PSS009923|
East Asian Ancestry|
1,736 individuals
 PGP000354 |
Ping J et al. Int J Cancer (2022)
 Reported Trait: Colorectal cancer OR: 1.51 [1.37, 1.67] AUROC: 0.61 [0.59, 0.64] — — —

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
PSS009924 — —
[
  • 622 cases
  • , 832 controls
]
 — East Asian
(Korean)		 — NR —
PSS009923 — —
[
  • 868 cases
  • , 868 controls
]
 — East Asian
(Chinese)		 — NR —