PGS Publication: PGP000819

Publication Information (EuropePMC)
Title Association of Mosaic Chromosomal Alterations and Genetic Factors with the Risk of Cirrhosis.
PubMed ID 38974956(Europe PMC)
doi 10.14218/jcth.2023.00575
Publication Date May 28, 2024
Journal J Clin Transl Hepatol
Author(s) Ge X, Zhang L, Liu M, Wang X, Xu X, Yan Y, Tian C, Yang J, Ding Y, Yu C, Lu J, Jiang L, Wang Q, Zhang Q, Song C.
Released in PGS Catalog: June 17, 2026

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:
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Greater Middle Eastern
Hispanic or Latin American
Additional Diverse Ancestries
Not Reported

External PGS Evaluated 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)
PGS000726
(PGS12_CIR)
 PGP000136 |
Emdin CA et al. Gastroenterology (2020)
 Cirrhosis cirrhosis of liver 12
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000726/ScoringFiles/PGS000726.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
PPM030744 PGS000726
(PGS12_CIR)
 PSS012276|
European Ancestry|
448,645 individuals
 PGP000819 |
Ge X et al. J Clin Transl Hepatol (2024)
|Ext.		 Reported Trait: Cirrhosis — — Hazard ratio (HR, high vs low tertile): 1.94 [1.72, 2.19] age, age2, sex, smoking status, drinking status, the top 10 principal components of ancestry and genotyping batch —
PPM030745 PGS000726
(PGS12_CIR)
 PSS012276|
European Ancestry|
448,645 individuals
 PGP000819 |
Ge X et al. J Clin Transl Hepatol (2024)
|Ext.		 Reported Trait: Compensated cirrhosis — — Hazard ratio (HR, high vs low tertile): 2.39 [2.06, 2.79] age, age2, sex, smoking status, drinking status, the top 10 principal components of ancestry and genotyping batch —
PPM030746 PGS000726
(PGS12_CIR)
 PSS012276|
European Ancestry|
448,645 individuals
 PGP000819 |
Ge X et al. J Clin Transl Hepatol (2024)
|Ext.		 Reported Trait: Decompensated cirrhosis — — Hazard ratio (HR, high vs low tertile): 1.89 [1.63, 2.2] age, age2, sex, smoking status, drinking status, the top 10 principal components of ancestry and genotyping batch —
PPM030747 PGS000726
(PGS12_CIR)
 PSS012276|
European Ancestry|
448,645 individuals
 PGP000819 |
Ge X et al. J Clin Transl Hepatol (2024)
|Ext.		 Reported Trait: Cirrhosis x Age-related mosaic chromosomal alterations interaction — — Hazard ratio (HR, with Age-related mosaic chromosomal alterations and high PRS vs. without Age-related mosaic chromosomal alterations and low PRS): 2.53 [1.74, 3.66] — —
PPM030748 PGS000726
(PGS12_CIR)
 PSS012276|
European Ancestry|
448,645 individuals
 PGP000819 |
Ge X et al. J Clin Transl Hepatol (2024)
|Ext.		 Reported Trait: Cirrhosis x copy-neutral loss of heterozygosity interaction — — Hazard ratio (HR, with Cell fraction ≥10% and high PRS vs. LOH event - and low PRS): 5.39 [2.41, 12.07] age, age2, sex, smoking status, drinking status, the top 10 principal components of ancestry and genotyping batch —

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
PSS012276 — —
[
  • 2,681 cases
  • , 445,964 controls
]
,
45.6 % Male samples
 Median = 58.0 years
Range = [45.0, 71.0] years		 European — UKB —