Polygenic Score (PGS) ID: PGS004621

Predicted Trait
Reported Trait Cirrhosis
Mapped Trait(s) cirrhosis of liver (EFO_0001422)
Released in PGS Catalog: July 31, 2024
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Terms and Licenses
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Score Details

Score Construction
PGS Name cirrhosis_pgs_eur
Development Method
Name PRS-CS
Parameters PRS-CS default setting (auto)
Variants
Original Genome Build GRCh37
Number of Variants 1,089,806
Effect Weight Type beta
PGS Source
PGS Catalog Publication (PGP) ID PGP000594
Citation (link to publication) Ghouse J et al. Nat Genet (2024)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 100%
1,580,011 individuals (100%)
PGS Evaluation
European: 100%
1 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
GWAS Catalog: GCST90319877
 1,580,011 individuals European 8 cohorts
  • AllofUs
  • ,CHB
  • ,EB
  • ,FinnGen
  • ,IHCS
  • ,MyCode
  • ,UKB
  • ,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
PPM020806 PSS011418|
European Ancestry|
1,153,995 individuals
 PGP000594 |
Ghouse J et al. Nat Genet (2024)
 Reported Trait: Cirrhosis OR: 1.42 AUROC: 0.68 — age,sex,10 PCs —

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
PSS011418 ICD10: K70.2, K70.3, K70.4, K74.0, K74.1, K74.2, K74.6, K76.6, or I85 —
[
  • 12,910 cases
  • , 1,141,085 controls
]
 — European — 7 cohorts
  • AllofUs
  • ,CHB
  • ,EB
  • ,FinnGen
  • ,IHCS
  • ,MyCode
  • ,deCODE
 —