| 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. |
| Polygenic Score ID & Name | PGS Publication ID (PGP) | Reported Trait | Mapped Trait(s) (Ontology) | Number of Variants |
Ancestry distribution GWAS Dev Eval |
Scoring File (FTP Link) |
|---|---|---|---|---|---|---|
| PGS000150 (GRS48) |
PGP000073 | Weigl K et al. Gastroenterology (2018) |
Colorectal cancer | colorectal cancer | 48 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000150/ScoringFiles/PGS000150.txt.gz |
|
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 |
|---|---|---|---|---|---|---|---|---|---|
| PPM000469 | PGS000150 (GRS48) |
PSS000269| European Ancestry| 749 individuals |
PGP000073 | Weigl K et al. Gastroenterology (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 | — |
| PPM000468 | PGS000150 (GRS48) |
PSS000269| European Ancestry| 749 individuals |
PGP000073 | Weigl K et al. Gastroenterology (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 | — |
| PPM000467 | PGS000150 (GRS48) |
PSS000268| European Ancestry| 1,043 individuals |
PGP000073 | Weigl K et al. Gastroenterology (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 | — |
| PPM000466 | PGS000150 (GRS48) |
PSS000268| European Ancestry| 1,043 individuals |
PGP000073 | Weigl K et al. Gastroenterology (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 | — |
|
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 |
|---|---|---|---|---|---|---|---|---|
| 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. | — | [ ,
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. | — | [ ,
60.48 % Male samples |
Range = [50.0, 79.0] years | European | — | BLITZ | — |