PGS Publication: PGP000073

Publication Information (EuropePMC)
Title Genetic Risk Score Is Associated With Prevalence of Advanced Neoplasms in a Colorectal Cancer Screening Population.
PubMed ID 29574091(Europe PMC)
doi 10.1053/j.gastro.2018.03.030
Publication Date March 21, 2018
Journal Gastroenterology
Author(s) Weigl K, Thomsen H, Balavarca Y, Hellwege JN, Shrubsole MJ, Brenner H.
Released in PGS: April 29, 2020

Associated Polygenic Score(s)

PGS Developed By This Publication

Polygenic Score (PGS) ID PGS Name PGS Publication (PGP) ID Reported Trait Mapped Trait(s) (Ontology) Number of Variants PGS Scoring File (FTP Link)
PGS000150 GRS48 PGP000073
Weigl K et al. Gastroenterology (2018)
Colorectal cancer colorectal cancer 48 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000150/ScoringFiles/PGS000150.txt.gz

PGS 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)
Evaluated Score 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 PGS000150 (GRS48) 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 PGS000150 (GRS48) 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 PGS000150 (GRS48) 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 PGS000150 (GRS48) 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