Predicted Trait | |
Reported Trait | Bladder cancer |
Mapped Trait(s) | urinary bladder carcinoma (MONDO_0004986) |
Score Construction | |
PGS Name | CC_Bladder_IV |
Development Method | |
Name | 15 variants from Graff et al (PGS000071) with inverse variant weights |
Parameters | NR |
Variants | |
Original Genome Build | GRCh37 |
Number of Variants | 15 |
Effect Weight Type | Inverse-variance weighting |
PGS Source | |
PGS Catalog Publication (PGP) ID | PGP000186 |
Citation (link to publication) | Kachuri L et al. Nat Commun (2020) |
Ancestry Distribution | |
Source of Variant Associations (GWAS) | European: 100% 464,396 individuals (100%) |
PGS Evaluation | European: 100% 1 Sample Sets |
Study Identifiers | Sample Numbers | Sample Ancestry | Cohort(s) |
---|---|---|---|
GWAS Catalog: GCST002243 Europe PMC: 24163127 |
18,729 individuals | European | 16 cohorts
|
Europe PMC: 26732427 |
[
|
European | 26 cohorts
|
GWAS Catalog: GCST000842 Europe PMC: 20972438 |
8,652 individuals | European | ATBC, CPSII, NEBCS, PLCO, SBCS |
GWAS Catalog: GCST001153 Europe PMC: 21750109 |
43,837 individuals | European (Netherlands) |
ICR, NBCS, NBS, UMC, deCODE |
GWAS Catalog: GCST002460 Europe PMC: 24861552 |
91,850 individuals | European | ICR, deCODE |
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 |
---|---|---|---|---|---|---|---|---|
PPM002053 | PSS001010| European Ancestry| 391,888 individuals |
PGP000186 | Kachuri L et al. Nat Commun (2020) |
Reported Trait: Incident blader cancer | HR: 1.3 [1.22, 1.39] | AUROC: 0.804 C-index: 0.814 (0.008) |
R²: 0.628 | Age at assessment, sex, genotyping array, PCs(1-15), cigarette pack-years, smoking status(never vs. former vs. current), body mass index | C-index calculated as a weighted average between 1 and 5 years and AUC at 5 years. |
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 |
---|---|---|---|---|---|---|---|---|
PSS001010 | Individuals with at least one recorded incident diagnosis of a borderline, in situ, or malignant primary cancer were defined as cases. | — | [
|
— | European | — | UKB | — |