Trait: bladder carcinoma

Experimental Factor Ontology (EFO) Information
Identifier EFO_0000292
Description A carcinoma that arises from epithelial cells of the urinary bladder [MONDO: DesignPattern]
Trait category
Synonyms 11 synonyms
  • urinary bladder carcinoma
  • carcinoma of bladder (disorder)
  • carcinoma of bladder
  • carcinoma of urinary bladder
  • carcinoma of the bladder
  • bladder carcinoma
  • carcinoma of the urinary bladder
  • carcinoma bladder
  • Carcinoma of the Bladder
  • Carcinoma of the Urinary Bladder
  • Urinary Bladder Carcinoma
Mapped term(s) 11 mapped terms
  • NCIT:C4912
  • DOID:4007
  • ICD10:C67
  • UMLS:C0699885
  • SCTID:255108000
  • OMIM:109800
  • NCIt:C4912
  • SNOMEDCT:255108000
  • HP:0002862
  • MONDO:0004986
  • MSH:D001749

Associated Polygenic Score(s)

Polygenic Score (PGS) ID PGS Name PGS Publication (PGP) ID Reported Trait Mapped Trait(s) (Ontology) Number of Variants PGS Scoring File (FTP Link)
PGS000071 CC_Bladder PGP000050 Graff RE et al. bioRxiv (2020) Pre Bladder cancer bladder carcinoma 15
PGS000152 cGRS_Bladder PGP000075 Shi Z et al. Cancer Med (2019) Bladder cancer bladder carcinoma 10

PGS Performance Metrics

Disclaimer: The performance metrics are displayed as reported by the source studies. It is important to note that metrics are not necessarily comparable with each other. For example, metrics depend on the sample characteristics (described by the PGS Catalog Sample Set [PSS] ID), phenotyping, and statistical modelling. Please refer to the source publication for additional guidance on performance.

PGS Performance Metric ID
Evaluated Score PGS Sample Set 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
PPM000483 PGS000152 (cGRS_Bladder) PSS000272 PGP000075
Shi Z et al. (2019)
Reported Trait: Bladder cancer Odds Ratio (OR; high vs. average risk groups): 1.58[1.1, 2.25]
PPM000472 PGS000152 (cGRS_Bladder) PSS000272 PGP000075
Shi Z et al. (2019)
Reported Trait: Bladder cancer Mean realative risk: 1.04[1.0, 1.08]
Wilcoxon test (case vs. control) p-value: 0.00377
PPM000191 PGS000071 (CC_Bladder) PSS000110 PGP000050
Graff RE et al. (2020)
Reported Trait: Bladder cancer OR: 1.3[1.25, 1.36] Genotyping reagent kit (GERA cohort only), genotyping array (UK Biobank only), age, sex, 10 PCs. Results from meta-analysis of GERA and UKB

Evaluated Samples

PGS Sample Set 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
  • 0 cases
  • , 13,427 controls
European eMERGE
PSS000110 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): 29010
  • 2,248 cases
  • , 410,354 controls
46.0 % Male samples
Mean = 58.0 years European GERA, UKB
PSS000272 Primary tumor samples from TCGA
  • 343 cases
  • , 0 controls
Mean = 69.0 years
Sd = 10.0 years
European TCGA