PGS Publication: PGP000594

Publication Information (EuropePMC)
Title Integrative common and rare variant analyses provide insights into the genetic architecture of liver cirrhosis.
PubMed ID 38632349(Europe PMC)
doi 10.1038/s41588-024-01720-y
Publication Date April 17, 2024
Journal Nat Genet
Author(s) Ghouse J, Sveinbjörnsson G, Vujkovic M, Seidelin AS, Gellert-Kristensen H, Ahlberg G, Tragante V, Rand SA, Brancale J, Vilarinho S, Lundegaard PR, Sørensen E, Erikstrup C, Bruun MT, Jensen BA, Brunak S, Banasik K, Ullum H, DBDS Genomic Consortium, Verweij N, Lotta L, Baras A, Regeneron Genetics Center, Mirshahi T, Carey DJ, Geisinger-Regeneron DiscovEHR Collaboration, VA Million Veteran Program, Kaplan DE, Lynch J, Morgan T, Schwantes-An TH, Dochtermann DR, Pyarajan S, Tsao PS, Estonian Biobank Research Team, Laisk T, Mägi R, Kozlitina J, Tybjærg-Hansen A, Jones D, Knowlton KU, Nadauld L, Ferkingstad E, Björnsson ES, Ulfarsson MO, Sturluson Á, Sulem P, Pedersen OB, Ostrowski SR, Gudbjartsson DF, Stefansson K, Olesen MS, Chang KM, Holm H, Bundgaard H, Stender S.
Released in PGS Catalog: July 31, 2024

Associated Polygenic Score(s)

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Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
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Not Reported

PGS Developed By This Publication

Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution
GWAS
Dev
Eval
 Scoring File (FTP Link)
PGS004621
(cirrhosis_pgs_eur)
 PGP000594 |
Ghouse J et al. Nat Genet (2024)
 Cirrhosis cirrhosis of liver 1,089,806
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004621/ScoringFiles/PGS004621.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
PPM020806 PGS004621
(cirrhosis_pgs_eur)
 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
 —