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
Cancer
Synonyms 11 synonyms
  • Carcinoma of the Bladder
  • Carcinoma of the Urinary Bladder
  • Urinary Bladder Carcinoma
  • bladder carcinoma
  • carcinoma bladder
  • carcinoma of bladder
  • carcinoma of bladder (disorder)
  • carcinoma of the bladder
  • carcinoma of the urinary bladder
  • carcinoma of urinary bladder
  • urinary bladder carcinoma
Mapped term(s) 11 mapped terms
  • DOID:4007
  • HP:0002862
  • ICD10:C67
  • MONDO:0004986
  • MeSH:D001749
  • NCIT:C4912
  • NCIt:C4912
  • OMIM:109800
  • SCTID:255108000
  • SNOMEDCT:255108000
  • UMLS:C0699885

Associated Polygenic Score(s)

Filter PGS by Participant Ancestry
Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
List of ancestries includes:
Display options:
Ancestry legend
Multi-ancestry (including European)
Multi-ancestry (excluding European)
African
East Asian
South Asian
Additional Asian Ancestries
European
Greater Middle Eastern
Hispanic or Latin American
Additional Diverse Ancestries
Not Reported
Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution PGS Scoring File (FTP Link)
PGS000071
(CC_Bladder)
PGP000050 |
Graff RE et al. bioRxiv (2020)
|Pre
Bladder cancer bladder carcinoma 15
-
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000071/ScoringFiles/PGS000071.txt.gz
PGS000152
(cGRS_Bladder)
PGP000075 |
Shi Z et al. Cancer Med (2019)
Bladder cancer bladder carcinoma 10
-
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000152/ScoringFiles/PGS000152.txt.gz
PGS000607
(PRSWEB_PHECODE189.2_20001-1035_PRS-CS_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Cancer of bladder bladder carcinoma 1,095,241
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000607/ScoringFiles/PGS000607.txt.gz
PGS000608
(PRSWEB_PHECODE189.2_C3-BLADDER_PRS-CS_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Cancer of bladder bladder carcinoma 1,097,063
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000608/ScoringFiles/PGS000608.txt.gz
PGS000609
(PRSWEB_PHECODE189.2_C67_LASSOSUM_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Cancer of bladder bladder carcinoma 1,130
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000609/ScoringFiles/PGS000609.txt.gz
PGS000610
(PRSWEB_PHECODE189.2_GWAS-Catalog-r2019-05-03-X189.2_P_5e-08_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Cancer of bladder bladder carcinoma 13
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000610/ScoringFiles/PGS000610.txt.gz
PGS000611
(PRSWEB_PHECODE189.2_GWAS-Catalog-r2019-05-03-X189.2_P_5e-08_UKB_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Cancer of bladder bladder carcinoma 13
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000611/ScoringFiles/PGS000611.txt.gz
PGS000612
(PRSWEB_PHECODE189.2_GWAS-Catalog-r2019-05-03-X189.2_PT_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Cancer of bladder bladder carcinoma 13
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000612/ScoringFiles/PGS000612.txt.gz
PGS000613
(PRSWEB_PHECODE189.2_GWAS-Catalog-r2019-05-03-X189.2_PT_UKB_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Cancer of bladder bladder carcinoma 15
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000613/ScoringFiles/PGS000613.txt.gz
PGS000614
(PRSWEB_PHECODE189.2_UKBB-SAIGE-HRC-X189.2_PRS-CS_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Cancer of bladder bladder carcinoma 1,119,238
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000614/ScoringFiles/PGS000614.txt.gz
PGS000615
(PRSWEB_PHECODE189.2_UKBB-SAIGE-HRC-X189.2_PT_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Cancer of bladder bladder carcinoma 106
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000615/ScoringFiles/PGS000615.txt.gz
PGS000616
(PRSWEB_PHECODE189.2_UKBB-SAIGE-HRC-X189.2_LASSOSUM_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Cancer of bladder bladder carcinoma 24,359
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000616/ScoringFiles/PGS000616.txt.gz
PGS000723
(PRS_Bladder)
PGP000135 |
Jia G et al. JNCI Cancer Spectr (2020)
Bladder cancer bladder carcinoma 14
-
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000723/ScoringFiles/PGS000723.txt.gz

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 (PPM)
Evaluated Score 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
PPM000191 PGS000071
(CC_Bladder)
PSS000110|
European Ancestry|
412,602 individuals
PGP000050 |
Graff RE et al. bioRxiv (2020)
|Pre
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
PPM000472 PGS000152
(cGRS_Bladder)
PSS000272|
European Ancestry|
13,770 individuals
PGP000075 |
Shi Z et al. Cancer Med (2019)
Reported Trait: Bladder cancer Mean realative risk: 1.04 [1.0, 1.08]
Wilcoxon test (case vs. control) p-value: 0.00377
PPM000483 PGS000152
(cGRS_Bladder)
PSS000272|
European Ancestry|
13,770 individuals
PGP000075 |
Shi Z et al. Cancer Med (2019)
Reported Trait: Bladder cancer Odds Ratio (OR; high vs. average risk groups): 1.58 [1.1, 2.25]
PPM001292 PGS000607
(PRSWEB_PHECODE189.2_20001-1035_PRS-CS_MGI_20200608)
PSS000555|
European Ancestry|
7,622 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Cancer of bladder OR: 1.096 [1.018, 1.18]
β: 0.0918 (0.0377)
AUROC: 0.531 [0.509, 0.551] Nagelkerke's Pseudo-R²: 0.00156
Brier score: 0.0922
Odds Ratio (OR, top 1% vs. Rest): 0.671 [0.279, 1.61]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE189.2_20001-1035_PRS-CS_MGI_20200608
PPM001294 PGS000609
(PRSWEB_PHECODE189.2_C67_LASSOSUM_MGI_20200608)
PSS000555|
European Ancestry|
7,622 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Cancer of bladder OR: 1.106 [1.027, 1.191]
β: 0.101 (0.0376)
AUROC: 0.528 [0.508, 0.549] Nagelkerke's Pseudo-R²: 0.00205
Brier score: 0.0922
Odds Ratio (OR, top 1% vs. Rest): 1.69 [0.934, 3.06]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE189.2_C67_LASSOSUM_MGI_20200608
PPM001297 PGS000612
(PRSWEB_PHECODE189.2_GWAS-Catalog-r2019-05-03-X189.2_PT_MGI_20200608)
PSS000555|
European Ancestry|
7,622 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Cancer of bladder OR: 1.292 [1.201, 1.391]
β: 0.256 (0.0375)
AUROC: 0.572 [0.55, 0.594] Nagelkerke's Pseudo-R²: 0.013
Brier score: 0.0917
Odds Ratio (OR, top 1% vs. Rest): 1.47 [0.779, 2.77]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE189.2_GWAS-Catalog-r2019-05-03-X189.2_PT_MGI_20200608
PPM001300 PGS000615
(PRSWEB_PHECODE189.2_UKBB-SAIGE-HRC-X189.2_PT_MGI_20200608)
PSS000555|
European Ancestry|
7,622 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Cancer of bladder OR: 1.084 [1.007, 1.167]
β: 0.0809 (0.0376)
AUROC: 0.519 [0.498, 0.541] Nagelkerke's Pseudo-R²: 0.00137
Brier score: 0.0922
Odds Ratio (OR, top 1% vs. Rest): 0.788 [0.35, 1.78]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE189.2_UKBB-SAIGE-HRC-X189.2_PT_MGI_20200608
PPM001293 PGS000608
(PRSWEB_PHECODE189.2_C3-BLADDER_PRS-CS_MGI_20200608)
PSS000555|
European Ancestry|
7,622 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Cancer of bladder OR: 1.084 [1.006, 1.167]
β: 0.0803 (0.0377)
AUROC: 0.521 [0.499, 0.541] Nagelkerke's Pseudo-R²: 0.00124
Brier score: 0.0922
Odds Ratio (OR, top 1% vs. Rest): 1.53 [0.832, 2.83]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE189.2_C3-BLADDER_PRS-CS_MGI_20200608
PPM001295 PGS000610
(PRSWEB_PHECODE189.2_GWAS-Catalog-r2019-05-03-X189.2_P_5e-08_MGI_20200608)
PSS000555|
European Ancestry|
7,622 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Cancer of bladder OR: 1.292 [1.201, 1.391]
β: 0.256 (0.0375)
AUROC: 0.572 [0.55, 0.594] Nagelkerke's Pseudo-R²: 0.013
Brier score: 0.0917
Odds Ratio (OR, top 1% vs. Rest): 1.47 [0.779, 2.77]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE189.2_GWAS-Catalog-r2019-05-03-X189.2_P_5e-08_MGI_20200608
PPM001298 PGS000613
(PRSWEB_PHECODE189.2_GWAS-Catalog-r2019-05-03-X189.2_PT_UKB_20200608)
PSS000576|
European Ancestry|
13,530 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Cancer of bladder OR: 1.301 [1.227, 1.379]
β: 0.263 (0.0299)
AUROC: 0.571 [0.555, 0.588] Nagelkerke's Pseudo-R²: 0.0125
Brier score: 0.0821
Odds Ratio (OR, top 1% vs. Rest): 2.91 [1.99, 4.24]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE189.2_GWAS-Catalog-r2019-05-03-X189.2_PT_UKB_20200608
PPM001299 PGS000614
(PRSWEB_PHECODE189.2_UKBB-SAIGE-HRC-X189.2_PRS-CS_MGI_20200608)
PSS000555|
European Ancestry|
7,622 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Cancer of bladder OR: 1.087 [1.01, 1.171]
β: 0.0836 (0.0377)
AUROC: 0.525 [0.503, 0.547] Nagelkerke's Pseudo-R²: 0.00135
Brier score: 0.0922
Odds Ratio (OR, top 1% vs. Rest): 0.675 [0.28, 1.62]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE189.2_UKBB-SAIGE-HRC-X189.2_PRS-CS_MGI_20200608
PPM001301 PGS000616
(PRSWEB_PHECODE189.2_UKBB-SAIGE-HRC-X189.2_LASSOSUM_MGI_20200608)
PSS000555|
European Ancestry|
7,622 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Cancer of bladder OR: 1.138 [1.057, 1.225]
β: 0.129 (0.0376)
AUROC: 0.538 [0.517, 0.557] Nagelkerke's Pseudo-R²: 0.00345
Brier score: 0.0921
Odds Ratio (OR, top 1% vs. Rest): 0.983 [0.459, 2.11]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE189.2_UKBB-SAIGE-HRC-X189.2_LASSOSUM_MGI_20200608
PPM001296 PGS000611
(PRSWEB_PHECODE189.2_GWAS-Catalog-r2019-05-03-X189.2_P_5e-08_UKB_20200608)
PSS000576|
European Ancestry|
13,530 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Cancer of bladder OR: 1.284 [1.211, 1.361]
β: 0.25 (0.0298)
AUROC: 0.567 [0.551, 0.584] Nagelkerke's Pseudo-R²: 0.0114
Brier score: 0.0821
Odds Ratio (OR, top 1% vs. Rest): 2.66 [1.79, 3.93]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE189.2_GWAS-Catalog-r2019-05-03-X189.2_P_5e-08_UKB_20200608
PPM001653 PGS000723
(PRS_Bladder)
PSS000853|
European Ancestry|
400,812 individuals
PGP000135 |
Jia G et al. JNCI Cancer Spectr (2020)
Reported Trait: Incident bladder cancer AUROC: 0.583 [0.559, 0.607] Genotyping array

Evaluated Samples

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
PSS000555 PheCode:189.2; ICD9CM:188.0, 188.1, 188.2, 188.3, 188.4, 188.5, 188.6, 188.7, 188.8, 188.9, 233.7, 236.7, 239.4, V10.51; ICD10CM:C67, C67.0, C67.1, C67.2, C67.3, C67.4, C67.5, C67.6, C67.7, C67.8, C67.9, D09.0, D41.4, D49.4
[
  • 789 cases
  • , 6,833 controls
]
European MGI
PSS000853 Data and diagnoses on site-specific incident cancers were provided by the National Health Service Information Centre for participants from England and Wales (follow-up through March 31, 2016) and by the NHS Central Register Scotland for participants from Scotland (follow-up through October 31, 2015). Cancers were coded by the International Classification of Diseases, Ninth Revision (ICD-9) or the International Classification of Diseases, Tenth Revision (ICD-10). Bladder cancer =(ICD-9 = 188 or ICD-10 = C67). Median = 5.8 years
[
  • 513 cases
  • , 400,299 controls
]
,
46.5 % Male samples
European UKB
PSS000272 Primary tumor samples from TCGA
[
  • 343 cases
  • , 0 controls
]
Mean = 69.0 years
Sd = 10.0 years
European TCGA
PSS000272
[
  • 0 cases
  • , 13,427 controls
]
European eMERGE
PSS000576 PheCode:189.2; ICD9:233.7, 236.7, 239.4; ICD10:C67.0, C67.1, C67.2, C67.3, C67.4, C67.5, C67.6, C67.7, C67.8, C67.9, D09.0, D41.4
[
  • 1,229 cases
  • , 12,301 controls
]
European UKB
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