Trait: alcoholic liver cirrhosis

Experimental Factor Ontology (EFO) Information
Identifier EFO_1000802
Description A disorder of the liver characterized by the presence of fibrotic scar tissue instead of healthy liver tissue. This condition is attributed to excessive consumption of alcoholic beverages. [NCIT: P378]
Trait category
Cancer
Digestive system disorder
Neurological disorder
Synonyms 15 synonyms
  • Alcoholic Cirrhosis
  • Alcoholic cirrhosis of liver
  • Alcoholic cirrhosis of liver (disorder)
  • Alcoholic cirrhosis of liver (disorder) [Ambiguous]
  • Laennec's cirrhosis
  • Laennec's cirrhosis, alcoholic
  • Liver Cirrhosis, Alcoholic
  • Portal Cirrhosis
  • Portal cirrhosis
  • Portal cirrhosis (disorder)
  • Portal cirrhosis unspecified (disorder)
  • alcoholic cirrhosis
  • alcoholic cirrhosis of liver
  • alcoholic liver cirrhosis
  • portal cirrhosis
Mapped term(s) 15 mapped terms
  • COHD:196463
  • CSP:1754-7677
  • DOID:14018
  • ICD10:K70.3
  • ICD9:571.2
  • MESH:D008104
  • MONDO:0006644
  • MeSH:D008104
  • MedDRA:10001618
  • NCIT:C34782
  • NCIt:C34782
  • SCTID:419728003
  • SNOMEDCT:420054005
  • UMLS:C0023891
  • UMLS:C1622502

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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Ancestry legend
Multi-ancestry (including European)
Multi-ancestry (excluding European)
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Additional Asian Ancestries
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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)
PGS000704
(HC171)
PGP000128 |
Sinnott-Armstrong N et al. Nat Genet (2021)
Alcoholic cirrhosis alcoholic liver cirrhosis 183,271
-
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000704/ScoringFiles/PGS000704.txt.gz - Check Terms/Licenses

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
PPM001596 PGS000704
(HC171)
PSS000792|
European Ancestry|
87,413 individuals
PGP000128 |
Sinnott-Armstrong N et al. Nat Genet (2021)
Reported Trait: Alcoholic cirrhosis AUROC: 0.55471 Age, sex, PCs(1-10)
PPM001607 PGS000704
(HC171)
PSS000793|
European Ancestry|
135,300 individuals
PGP000128 |
Sinnott-Armstrong N et al. Nat Genet (2021)
Reported Trait: Alcoholic cirrhosis HR: 1.18 [1.11, 1.27] C-index: 0.711 Age as time scale, sex, batch, PCs(1-10)

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
PSS000792 87,413 individuals European UKB
PSS000793 ICD-10 K70
[
  • 845 cases
  • , 134,455 controls
]
European
(Finnish)
FinnGen