| Predicted Trait | |
| Reported Trait | Colorectal cancer |
| Mapped Trait(s) | colorectal cancer (EFO_0005842) |
| Score Construction | |
| PGS Name | GRS48 |
| Variants | |
| Original Genome Build | NR |
| Number of Variants | 48 |
| Development Method | |
| Name | GWAS-significant SNPs |
| Parameters | NR |
| PGS Source | |
| PGS Catalog Publication (PGP) ID | PGP000073 |
| Citation (link to publication) | Weigl K et al. Gastroenterology (2018) |
| Study Identifiers | Sample Numbers | Sample Ancestry |
|---|---|---|
| GWAS Catalog: GCST002919 EuropePMC: 25990418 |
17,556 individuals | European |
| GWAS Catalog: GCST001544 EuropePMC: 22634755 |
17,780 individuals | European |
| GWAS Catalog: GCST000843 EuropePMC: 2097244 |
30,420 individuals | European |
| GWAS Catalog: GCST000843 EuropePMC: 2097244 |
7,962 individuals | European |
| GWAS Catalog: GCST000169 EuropePMC: 18372905 |
1,849 individuals | European |
| GWAS Catalog: GCST000053 EuropePMC: 17618284 |
1,890 individuals | European |
| GWAS Catalog: GCST000948 EuropePMC: 2124226 |
3,481 individuals | East Asian |
| GWAS Catalog: GCST000052 EuropePMC: 17618283 |
2,194 individuals | NR |
| GWAS Catalog: GCST000168 EuropePMC: 18372901 |
1,983 individuals | European (U.K.) |
| GWAS Catalog: GCST000113 EuropePMC: 17934461 |
1,890 individuals | European |
| GWAS Catalog: GCST001787 EuropePMC: 23266556 |
27,809 individuals | European |
| GWAS Catalog: GCST002411 EuropePMC: 24737748 |
13,443 individuals | European |
| GWAS Catalog: GCST000843 EuropePMC: 2097244 |
30,420 individuals | European |
| GWAS Catalog: GCST000843 EuropePMC: 2097244 |
7,962 individuals | European |
| GWAS Catalog: GCST003017 EuropePMC: 26151821 |
37,955 individuals | European |
| GWAS Catalog: GCST002512 EuropePMC: 2497848 |
1,281 individuals | European (Spain) |
| GWAS Catalog: GCST002528 EuropePMC: 25023989 |
983 individuals | Other |
| GWAS Catalog: GCST002528 EuropePMC: 25023989 |
2,976 individuals | European |
| GWAS Catalog: GCST001792 EuropePMC: 23263487 |
7,847 individuals | East Asian |
| GWAS Catalog: GCST000113 EuropePMC: 17934461 |
1,890 individuals | European |
|
PGS Performance Metric ID (PPM ID) |
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 | 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 | 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 | 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 | 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 | — |
|
PGS Sample Set ID (PSS ID) |
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 | — |