Predicted Trait | |
Reported Trait | Colorectal cancer |
Mapped Trait(s) | colorectal cancer (EFO_0005842) |
Score Construction | |
PGS Name | CC_Colorectal |
Variants | |
Original Genome Build | GRCh37 |
Number of Variants | 103 |
Development Method | |
Name | Genome-wide significant SNPs |
Parameters | P < 5x10-8, MAF > 1%, biallelic SNPs, LD-thin r2 > 0.3 |
PGS Source | |
PGS Catalog Publication (PGP) ID | PGP000050 |
Citation (link to publication) | Graff RE et al. bioRxiv (2020) Preprint |
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: GCST000270 EuropePMC: 19011631 |
3,831 individuals | European |
GWAS Catalog: GCST000843 EuropePMC: 2097244 |
30,420 individuals | European |
GWAS Catalog: GCST000843 EuropePMC: 2097244 |
7,962 individuals | European |
GWAS Catalog: GCST007856 EuropePMC: 30510241 |
120,184 individuals | European |
GWAS Catalog: GCST007856 EuropePMC: 30510241 |
5,294 individuals | East Asian |
GWAS Catalog: GCST001787 EuropePMC: 23266556 |
27,809 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: GCST006131 EuropePMC: 29917119 |
6,597 individuals | African American or Afro-Caribbean |
GWAS Catalog: GCST006131 EuropePMC: 29917119 |
67,812 individuals | European |
GWAS Catalog: GCST003017 EuropePMC: 26151821 |
37,955 individuals | European |
GWAS Catalog: GCST004895 EuropePMC: 28960316 |
15,783 individuals | European (Finnish) |
GWAS Catalog: GCST002411 EuropePMC: 24737748 |
13,443 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 |
---|---|---|---|---|---|---|---|---|
PPM000194 | PSS000113 | PGP000050 Graff RE et al. (2020) Pre | Reported Trait: Colorectal cancer | OR: 1.37 [1.33, 1.4] | — | — | Genotyping reagent kit (GERA cohort only), genotyping array (UK Biobank only), age, sex, 10 PCs. | Results from meta-analysis of GERA and UKB |
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 |
---|---|---|---|---|---|---|---|---|
PSS000113 | Cancer diagnoses were obtained from reigstry data in GERA, and ICD-9/10 codes mapped to ICD-O-3 codes in UK Biobank. Cancers for this phenotype were classified using the following SEER site recode(s): 21041 - 21049, 21051, 21052, and 21060 | — | [ ,
46.0 % Male samples |
Mean = 58.0 years | European | — | GERA, UKB | — |