| Predicted Trait | |
| Reported Trait | Colorectal cancer |
| Mapped Trait(s) | colorectal cancer (MONDO_0005575) |
| Score Construction | |
| PGS Name | GRS48 |
| Development Method | |
| Name | Genome-wide significant variants |
| Parameters | NR |
| Variants | |
| Original Genome Build | NR |
| Number of Variants | 48 |
| Effect Weight Type | 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 | Cohort(s) |
|---|---|---|---|
GWAS Catalog: GCST000052 Europe PMC: 17618283 |
2,194 individuals | NR | NR |
GWAS Catalog: GCST000053 Europe PMC: 17618284 |
1,890 individuals | European | CoRGI |
GWAS Catalog: GCST000113 Europe PMC: 17934461 |
1,890 individuals | European | CoRGI |
GWAS Catalog: GCST000168 Europe PMC: 18372901 |
1,983 individuals | European (U.K.) |
NR |
GWAS Catalog: GCST000169 Europe PMC: 18372905 |
1,849 individuals | European | CoRGI |
GWAS Catalog: GCST000843 Europe PMC: 20972440 |
30,420 individuals | European | NR |
GWAS Catalog: GCST000843 Europe PMC: 20972440 |
7,962 individuals | European | NR |
GWAS Catalog: GCST000948 Europe PMC: 2124226 |
3,481 individuals | East Asian | NR |
GWAS Catalog: GCST001544 Europe PMC: 22634755 |
17,780 individuals | European | COGS, CoRGI, NSCCG, SOCCS, VICTOR |
GWAS Catalog: GCST001792 Europe PMC: 23263487 |
7,847 individuals | East Asian | NR |
GWAS Catalog: GCST002411 Europe PMC: 24737748 |
13,443 individuals | European | NR |
GWAS Catalog: GCST002512 Europe PMC: 2497848 |
1,281 individuals | European (Spain) |
NR |
GWAS Catalog: GCST002528 Europe PMC: 25023989 |
2,976 individuals | European | NR |
GWAS Catalog: GCST002919 Europe PMC: 25990418 |
17,556 individuals | European | NR |
GWAS Catalog: GCST003017 Europe PMC: 26151821 |
37,955 individuals | European | NR |
GWAS Catalog: GCST002528 Europe PMC: 25023989 |
983 individuals | Other | CCFR, MECC |
GWAS Catalog: GCST001787 Europe PMC: 23266556 |
27,809 individuals | European | NR |
|
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 |
|---|---|---|---|---|---|---|---|---|
| PPM000469 | 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 | 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 | 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 | 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 | — |