PGS Publication: PGP000190

Publication Information (EuropePMC)
Title Colorectal cancer susceptibility variants and risk of conventional adenomas and serrated polyps: results from three cohort studies.
PubMed ID 31038671(Europe PMC)
doi 10.1093/ije/dyz096
Publication Date Feb. 1, 2020
Journal Int J Epidemiol
Author(s) Hang D, Joshi AD, He X, Chan AT, Jovani M, Gala MK, Ogino S, Kraft P, Turman C, Peters U, Bien SA, Lin Y, Hu Z, Shen H, Wu K, Giovannucci EL, Song M.
Released in PGS Catalog: June 11, 2021

Associated Polygenic Score(s)

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Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
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Not Reported

PGS Developed By This Publication

Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution PGS Scoring File (FTP Link)
PGS000801
(GRS40_CRC)
PGP000190 |
Hang D et al. Int J Epidemiol (2020)
Colorectal cancer colorectal cancer 40
-
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000801/ScoringFiles/PGS000801.txt.gz

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)
Evaluated Score 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
PPM002087 PGS000801
(GRS40_CRC)
PSS001030|
European Ancestry|
27,426 individuals
PGP000190 |
Hang D et al. Int J Epidemiol (2020)
Reported Trait: Advanced conventional adenoma OR: 1.22 [1.16, 1.28] Odds Ratio (OR, top 20% vs bottom 20%): 1.91 [1.59, 2.29] Study cohort (NHS, NHSII, HPFS), time period of endoscopy (in 2-year interval), number of previous endoscopies, time in years since the most recent endoscopy, age, PCs(1-3) Effect weights for SNPs within the PGS were obtained using the Genetics and Epidemiology of Colorectal Cancer Consortium (GECCO) dataset. The GECCO dataset had no overlap with the dataset used to evaluate the score.
PPM002092 PGS000801
(GRS40_CRC)
PSS001030|
European Ancestry|
27,426 individuals
PGP000190 |
Hang D et al. Int J Epidemiol (2020)
Reported Trait: Multiple conventional adenomas OR: 1.25 [1.17, 1.34] Study cohort (NHS, NHSII, HPFS), time period of endoscopy (in 2-year interval), number of previous endoscopies, time in years since the most recent endoscopy, age, PCs(1-3) Effect weights for SNPs within the PGS were obtained using the Genetics and Epidemiology of Colorectal Cancer Consortium (GECCO) dataset. The GECCO dataset had no overlap with the dataset used to evaluate the score.
PPM002093 PGS000801
(GRS40_CRC)
PSS001030|
European Ancestry|
27,426 individuals
PGP000190 |
Hang D et al. Int J Epidemiol (2020)
Reported Trait: Multiple serrated polyps OR: 1.09 [1.01, 1.18] Study cohort (NHS, NHSII, HPFS), time period of endoscopy (in 2-year interval), number of previous endoscopies, time in years since the most recent endoscopy, age, PCs(1-3) Effect weights for SNPs within the PGS were obtained using the Genetics and Epidemiology of Colorectal Cancer Consortium (GECCO) dataset. The GECCO dataset had no overlap with the dataset used to evaluate the score.
PPM002085 PGS000801
(GRS40_CRC)
PSS001030|
European Ancestry|
27,426 individuals
PGP000190 |
Hang D et al. Int J Epidemiol (2020)
Reported Trait: Conventional adeonma OR: 1.17 [1.12, 1.21] Odds Ratio (OR, top 20% vs bottom 20%): 1.63 [1.44, 1.83] Study cohort (NHS, NHSII, HPFS), time period of endoscopy (in 2-year interval), number of previous endoscopies, time in years since the most recent endoscopy, age, PCs(1-3) Effect weights for SNPs within the PGS were obtained using the Genetics and Epidemiology of Colorectal Cancer Consortium (GECCO) dataset. The GECCO dataset had no overlap with the dataset used to evaluate the score.
PPM002086 PGS000801
(GRS40_CRC)
PSS001030|
European Ancestry|
27,426 individuals
PGP000190 |
Hang D et al. Int J Epidemiol (2020)
Reported Trait: Non-advanced conventional adenoma OR: 1.12 [1.07, 1.18] Odds Ratio (OR, top 20% vs bottom 20%): 1.44 [1.23, 1.68] Study cohort (NHS, NHSII, HPFS), time period of endoscopy (in 2-year interval), number of previous endoscopies, time in years since the most recent endoscopy, age, PCs(1-3) Effect weights for SNPs within the PGS were obtained using the Genetics and Epidemiology of Colorectal Cancer Consortium (GECCO) dataset. The GECCO dataset had no overlap with the dataset used to evaluate the score.
PPM002088 PGS000801
(GRS40_CRC)
PSS001030|
European Ancestry|
27,426 individuals
PGP000190 |
Hang D et al. Int J Epidemiol (2020)
Reported Trait: Serrated polyp OR: 1.09 [1.03, 1.14] Odds Ratio (OR, top 20% vs bottom 20%): 1.24 [1.06, 1.45] Study cohort (NHS, NHSII, HPFS), time period of endoscopy (in 2-year interval), number of previous endoscopies, time in years since the most recent endoscopy, age, PCs(1-3) Effect weights for SNPs within the PGS were obtained using the Genetics and Epidemiology of Colorectal Cancer Consortium (GECCO) dataset. The GECCO dataset had no overlap with the dataset used to evaluate the score.
PPM002089 PGS000801
(GRS40_CRC)
PSS001030|
European Ancestry|
27,426 individuals
PGP000190 |
Hang D et al. Int J Epidemiol (2020)
Reported Trait: Serrated polyp with high risk of malignancy OR: 1.1 [1.01, 1.19] Study cohort (NHS, NHSII, HPFS), time period of endoscopy (in 2-year interval), number of previous endoscopies, time in years since the most recent endoscopy, age, PCs(1-3) Effect weights for SNPs within the PGS were obtained using the Genetics and Epidemiology of Colorectal Cancer Consortium (GECCO) dataset. The GECCO dataset had no overlap with the dataset used to evaluate the score.
PPM002090 PGS000801
(GRS40_CRC)
PSS001030|
European Ancestry|
27,426 individuals
PGP000190 |
Hang D et al. Int J Epidemiol (2020)
Reported Trait: Serrated polyp with low risk of malignancy OR: 1.08 [1.02, 1.15] Odds Ratio (OR, top 20% vs bottom 20%): 1.25 [1.03, 1.53] Study cohort (NHS, NHSII, HPFS), time period of endoscopy (in 2-year interval), number of previous endoscopies, time in years since the most recent endoscopy, age, PCs(1-3) Effect weights for SNPs within the PGS were obtained using the Genetics and Epidemiology of Colorectal Cancer Consortium (GECCO) dataset. The GECCO dataset had no overlap with the dataset used to evaluate the score.
PPM002091 PGS000801
(GRS40_CRC)
PSS001030|
European Ancestry|
27,426 individuals
PGP000190 |
Hang D et al. Int J Epidemiol (2020)
Reported Trait: Synchronous conventional adenoma and serrated polyp OR: 1.24 [1.16, 1.32] Odds Ratio (OR, top 20% vs bottom 20%): 1.96 [1.54, 2.49] Study cohort (NHS, NHSII, HPFS), time period of endoscopy (in 2-year interval), number of previous endoscopies, time in years since the most recent endoscopy, age, PCs(1-3) Effect weights for SNPs within the PGS were obtained using the Genetics and Epidemiology of Colorectal Cancer Consortium (GECCO) dataset. The GECCO dataset had no overlap with the dataset used to evaluate the score.

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
PSS001030 Cases included individuals with polyps. Of the 5331 cases, 2952 had conventional adenomas (CAs), 1585 had serrated polyps (SAs) and 794 had sychronous CAs and SPs. CAs were defined as tubular, tubulovillous and villous adenomas and adenomas with high-grade dysplasia. Advanced CAs were defined by at least one CA ≥10 mm in diameter or with advanced histology (tubulovillous/villous histological features or high-grade/severe dysplasia) or ≥3 CAs regardless of histology or size. SPs were defined as hyperplastic polyps and mixed/serrated adenomas. Individuals at high risk of malignancy were defined as having SPs located in the proximal colon or with a size of ≥10 mm. Mixed/serrated ademonas were defined as both mixed polyps (those with both adenomatous and hyperplastic changes in histology) and polyps with any serrated diagnosis (e.g. serrated adenomas, serrated polyps and SSA/Ps). If a participant had both CAs and SPs in an endoscopy, each type of the polyps were recorded separately, and considered the patient as a synchronous SP and CA case.
[
  • 5,331 cases
  • , 22,095 controls
]
,
30.0 % Male samples
Mean = 63.2 years
Sd = 10.0 years
European HPFS, NHS, NHS2