Polygenic Score (PGS) ID: PGS000723

Predicted Trait
Reported Trait Bladder cancer
Mapped Trait(s) urinary bladder carcinoma (MONDO_0004986)
Released in PGS Catalog: Feb. 3, 2021
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Score Details

Score Construction
PGS Name PRS_Bladder
Development Method
Name Genome-wide significant variants
Parameters NR
Variants
Original Genome Build hg19
Number of Variants 14
Effect Weight Type beta
PGS Source
PGS Catalog Publication (PGP) ID PGP000135
Citation (link to publication) Jia G et al. JNCI Cancer Spectr (2020)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 100%
455,744 individuals (100%)
PGS Evaluation
European: 100%
1 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
Europe PMC: 26732427
[
  • 15,058 cases
  • , 286,270 controls
]
 European 26 cohorts
  • ASHRAM
  • ,ATBC
  • ,BBCS_b
  • ,CPSII
  • ,DBCS
  • ,EAGLE
  • ,EPIC
  • ,FPCC
  • ,FrBCS
  • ,HPFS
  • ,IBCS
  • ,LABCS
  • ,LBCS
  • ,MEC
  • ,MSKBCS
  • ,NBCS
  • ,NCBCS
  • ,NEBCS
  • ,NHS
  • ,NeuBCS
  • ,PLCO
  • ,SANBCS
  • ,SpBCS
  • ,TBCS
  • ,TXBCS
  • ,WHI
GWAS Catalog: GCST001153
Europe PMC: 21750109
 43,837 individuals European
(Netherlands)		 ICR, NBCS, NBS, UMC, deCODE
GWAS Catalog: GCST002243
Europe PMC: 24163127
 18,729 individuals European 16 cohorts
  • ATBC
  • ,BBCS_b
  • ,CPSII
  • ,EAGLE
  • ,EPIC
  • ,FPCC
  • ,FrBCS
  • ,HPFS
  • ,LABCS
  • ,MEC
  • ,NEBCS
  • ,NHS
  • ,PLCO
  • ,SpBCS
  • ,TXBCS
  • ,WHI
GWAS Catalog: GCST002460
Europe PMC: 24861552
 91,850 individuals European ICR, deCODE

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) 		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
PPM001653 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
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 —