Trait: cirrhosis of liver

Experimental Factor Ontology (EFO) Information
Identifier EFO_0001422
Description A disorder characterized by replacement of the liver parenchyma with fibrous tissue and regenerative...  nodules. It is usually caused by alcoholism, hepatitis B, and hepatitis C. Complications include the development of ascites, esophageal varices, bleeding, and hepatic encephalopathy. [NCIT: P378]Show more
Trait categories
Cancer
Digestive system disorder
Synonyms 22 synonyms
  • CL - Cirrhosis of liver
  • Cirrhoses, Hepatic
  • Cirrhoses, Liver
  • Cirrhosis of liver (disorder)
  • Cirrhosis of liver NOS
  • Cirrhosis of liver NOS (disorder)
  • Cirrhosis of liver without mention of alcohol
  • Cirrhosis of liver, NOS
  • Cirrhosis, Hepatic
  • Cirrhosis, Liver
  • Fibroses, Liver
  • Fibrosis, Liver
  • Hepatic Cirrhoses
  • Hepatic cirrhosis
  • Hepatic cirrhosis, NOS
  • Liver Cirrhoses
  • Liver Fibroses
  • Liver Fibrosis
  • cirrhosis
  • cirrhosis of liver
  • liver cirrhosis
  • liver cirrhosis
Mapped terms 15 mapped terms
  • DOID:5082
  • ICD10:K74
  • ICD9:571.5
  • MEDGEN:7368
  • MESH:D008103
  • MONDO:0005155
  • MedDRA:10009213
  • NANDO:2100268
  • NANDO:2200937
  • NCIT:C2951
  • NCIt:C2951
  • OMIM:215600
  • SCTID:19943007
  • SNOMEDCT:19943007
  • UMLS:C0023890
Child trait(s) alcoholic liver cirrhosis

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:
Display options:
Ancestry legend
Multi-ancestry (including European)
Multi-ancestry (excluding European)
African
East Asian
South Asian
Additional Asian Ancestries
European
Greater Middle Eastern
Hispanic or Latin American
Additional Diverse Ancestries
Not Reported
Note: This table shows all PGS for "cirrhosis of liver" and any child terms of this trait in the EFO hierarchy by default.
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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)
PGS000704
(HC171)
PGP000128 |
Sinnott-Armstrong N et al. Nat Genet (2021)
Alcoholic cirrhosisalcoholic liver cirrhosis183,271
-
D
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000704/ScoringFiles/PGS000704.txt.gz - Check Terms/Licenses
PGS000726
(PGS12_CIR)
PGP000136 |
Emdin CA et al. Gastroenterology (2020)
Cirrhosiscirrhosis of liver12
G
D
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000726/ScoringFiles/PGS000726.txt.gz
PGS000776
(GRS9_Cirr)
PGP000180 |
Innes H et al. Gastroenterology (2020)
Cirrhosiscirrhosis of liver9
G
D
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000776/ScoringFiles/PGS000776.txt.gz
PGS001777
(3-SNP_cirr)
PGP000258 |
Whitfield JB et al. J Hepatol (2021)
Cirrhosis (alcohol related)alcoholic liver cirrhosis3
G
-
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001777/ScoringFiles/PGS001777.txt.gz
PGS004621
(cirrhosis_pgs_eur)
PGP000594 |
Ghouse J et al. Nat Genet (2024)
Cirrhosiscirrhosis of liver1,089,806
G
-
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004621/ScoringFiles/PGS004621.txt.gz
PGS004913
(PRSALC)
PGP000645 |
Schwantes-An TH et al. Hepatol Commun (2024)
Alcohol-associated liver cirrhosisalcoholic liver cirrhosis20
G
D
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004913/ScoringFiles/PGS004913.txt.gz
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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.

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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
PPM001596PGS000704
(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)—
PPM001607PGS000704
(HC171)
PSS000793|
European Ancestry|
135,300 individuals
PGP000128 |
Sinnott-Armstrong N et al. Nat Genet (2021)
Reported Trait: Alcoholic cirrhosisHR: 1.18 [1.11, 1.27]C-index: 0.711—Age as time scale, sex, batch, PCs(1-10)—
PPM001656PGS000726
(PGS12_CIR)
PSS000861|
European Ancestry|
30,469 individuals
PGP000136 |
Emdin CA et al. Gastroenterology (2020)
Reported Trait: CirrhosisOR: 1.32—Odds Ratio (OR, top 20% vs. bottom 20%): 2.26 [1.87, 2.73]Age, sex, PCs (1-5)—
PPM001657PGS000726
(PGS12_CIR)
PSS000861|
European Ancestry|
30,469 individuals
PGP000136 |
Emdin CA et al. Gastroenterology (2020)
Reported Trait: Biopsy-confirmed cirrhosisOR: 1.39—Odds Ratio (OR, top 20% vs. bottom 20%): 2.21 [1.59, 3.08]Age, sex, PCs (1-5)—
PPM001658PGS000726
(PGS12_CIR)
PSS000861|
European Ancestry|
30,469 individuals
PGP000136 |
Emdin CA et al. Gastroenterology (2020)
Reported Trait: Esophageal varicesOR: 1.45—Odds Ratio (OR, top 20% vs. bottom 20%): 3.1 [1.97, 4.9]Age, sex, PCs (1-5)—
PPM001659PGS000726
(PGS12_CIR)
PSS000861|
European Ancestry|
30,469 individuals
PGP000136 |
Emdin CA et al. Gastroenterology (2020)
Reported Trait: Hepatocellular carciomaOR: 1.39—Odds Ratio (OR, top 20% vs. bottom 20%): 2.51 [1.59, 3.97]Age, sex, PCs (1-5)—
PPM001660PGS000726
(PGS12_CIR)
PSS000861|
European Ancestry|
30,469 individuals
PGP000136 |
Emdin CA et al. Gastroenterology (2020)
Reported Trait: Death from liver diseaseOR: 1.29—Odds Ratio (OR, top 20% vs. bottom 20%): 2.03 [1.24, 3.32]Age, sex, PCs (1-5)—
PPM001661PGS000726
(PGS12_CIR)
PSS000866|
African Ancestry|
1,442 individuals
PGP000136 |
Emdin CA et al. Gastroenterology (2020)
Reported Trait: Cirrhosis——Odds Ratio (OR, 20-80% vs. bottom 20%): 3.63 [1.55, 8.5]
Odds Ratio (OR, top 20% risk vs. bottom 20%): 2.44 [0.92, 6.48]		Age, sex, PCs (1-5)—
PPM001662PGS000726
(PGS12_CIR)
PSS000863|
Ancestry Not Reported|
13,826 individuals
PGP000136 |
Emdin CA et al. Gastroenterology (2020)
Reported Trait: Cirrhosis——Odds Ratio (OR, top 1% vs. bottom 20%): 3.16 [2.03, 4.9]Age, sex, PCs (1-5)—
PPM001663PGS000726
(PGS12_CIR)
PSS000862|
Ancestry Not Reported|
13,047 individuals
PGP000136 |
Emdin CA et al. Gastroenterology (2020)
Reported Trait: Biopsy-confirmed cirrhosis——Odds Ratio (OR, top 1% vs. bottom 20%): 6.12 [3.55, 10.58]Age, sex, PCs (1-5)—
PPM001664PGS000726
(PGS12_CIR)
PSS000864|
European Ancestry|
213 individuals
PGP000136 |
Emdin CA et al. Gastroenterology (2020)
Reported Trait: Cirrhosis in individuals with hepatitis B——Odds ratio (OR, top 20% vs. bottom 20%): 4.83 [1.12, 20.0]Age, sex, PCs (1-5)—
PPM001665PGS000726
(PGS12_CIR)
PSS000865|
European Ancestry|
661 individuals
PGP000136 |
Emdin CA et al. Gastroenterology (2020)
Reported Trait: Cirrhosis in individuals with hepatitis C——Odds ratio (OR, top 20% vs. bottom 20%): 2.2 [1.2, 4.05]Age, sex, PCs (1-5)—
PPM002011PGS000776
(GRS9_Cirr)
PSS000996|
Ancestry Not Reported|
107,014 individuals
PGP000180 |
Innes H et al. Gastroenterology (2020)
Reported Trait: Incident liver cirrhosis in individuals at-risk for nonalcoholic fatty liver disease (time to first hospitilisation)—C-index: 0.62 [0.59, 0.64]Hazard Ratio (HR, top 20% vs bottom 20%): 3.12 [2.37, 4.12]——
PPM002012PGS000776
(GRS9_Cirr)
PSS000996|
Ancestry Not Reported|
107,014 individuals
PGP000180 |
Innes H et al. Gastroenterology (2020)
Reported Trait: Incident liver cirrhosis in individuals at-risk for nonalcoholic fatty liver disease (time to first hospitilisation)——Hazard Ratio (HR, top 20% vs bottom 20%): 3.16 [2.38, 4.21]Age, sex, BMI, diabetes, units of alcohol consumed per week—
PPM002013PGS000776
(GRS9_Cirr)
PSS000996|
Ancestry Not Reported|
107,014 individuals
PGP000180 |
Innes H et al. Gastroenterology (2020)
Reported Trait: Incident liver cirrhosis in individuals at-risk for nonalcoholic fatty liver disease (time to first hospitilisation)—C-index: 0.677 [0.653, 0.7]—Age, sex—
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Evaluated Samples

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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—
PSS000793ICD-10 K70—
[
  • 845 cases
  • , 134,455 controls
]
—European
(Finnish)		—FinnGen—
PSS000861Cases included individuals with cirrhosis, biopsy confirmed cirrhosis and/or cirrhosis ascertained t... hrough ICD codes:Hospitalization or death due to physician diagnosed cirrhosis: K70.2 (alcoholic fibrosis and sclerosis of the liver), K70.3 (alcoholic cirrhosis), K70.4 (alcoholic hepatic failure), K74.0 (hepatic fibrosis), K74.1 (hepatic sclerosis), K74.2 (hepatic fibrosis with hepatic sclerosis), K74.6 (other and unspecific cirrhosis of liver), K76.6 (portal hypertension), or I85 (esophageal varices).Show more—
[
  • 1,137 cases
  • , 29,332 controls
]
—European—PHB—
PSS000862Cases included individuals with cirrhosis, biopsy confirmed cirrhosis and/or cirrhosis ascertained t... hrough ICD codes:Hospitalization or death due to physician diagnosed cirrhosis: K70.2 (alcoholic fibrosis and sclerosis of the liver), K70.3 (alcoholic cirrhosis), K70.4 (alcoholic hepatic failure), K74.0 (hepatic fibrosis), K74.1 (hepatic sclerosis), K74.2 (hepatic fibrosis with hepatic sclerosis), K74.6 (other and unspecific cirrhosis of liver), K76.6 (portal hypertension), or I85 (esophageal varices).Show more—
[
  • 339 cases
  • , 12,708 controls
]
—NR—PHB—
PSS000863Cases included individuals with cirrhosis, biopsy confirmed cirrhosis and/or cirrhosis ascertained t... hrough ICD codes:Hospitalization or death due to physician diagnosed cirrhosis: K70.2 (alcoholic fibrosis and sclerosis of the liver), K70.3 (alcoholic cirrhosis), K70.4 (alcoholic hepatic failure), K74.0 (hepatic fibrosis), K74.1 (hepatic sclerosis), K74.2 (hepatic fibrosis with hepatic sclerosis), K74.6 (other and unspecific cirrhosis of liver), K76.6 (portal hypertension), or I85 (esophageal varices).Show more—
[
  • 1,137 cases
  • , 12,689 controls
]
—NR—PHB—
PSS000864All individuals had hepatitis B. Cases included individuals cirrhosis, biopsy confirmed cirrhosis an... d/or cirrhosis ascertained through ICD codes:Hospitalization or death due to physician diagnosed cirrhosis: K70.2 (alcoholic fibrosis and sclerosis of the liver), K70.3 (alcoholic cirrhosis), K70.4 (alcoholic hepatic failure), K74.0 (hepatic fibrosis), K74.1 (hepatic sclerosis), K74.2 (hepatic fibrosis with hepatic sclerosis), K74.6 (other and unspecific cirrhosis of liver), K76.6 (portal hypertension), or I85 (esophageal varices).Show more—
[
  • 60 cases
  • , 153 controls
]
—European—PHB—
PSS000865All individuals had hepatitis B. Cases included individuals cirrhosis, biopsy confirmed cirrhosis an... d/or cirrhosis ascertained through ICD codes:Hospitalization or death due to physician diagnosed cirrhosis: K70.2 (alcoholic fibrosis and sclerosis of the liver), K70.3 (alcoholic cirrhosis), K70.4 (alcoholic hepatic failure), K74.0 (hepatic fibrosis), K74.1 (hepatic sclerosis), K74.2 (hepatic fibrosis with hepatic sclerosis), K74.6 (other and unspecific cirrhosis of liver), K76.6 (portal hypertension), or I85 (esophageal varices).Show more—
[
  • 233 cases
  • , 428 controls
]
—European—PHB—
PSS000866Cases included individuals with cirrhosis, biopsy confirmed cirrhosis and/or cirrhosis ascertained t... hrough ICD codes:Hospitalization or death due to physician diagnosed cirrhosis: K70.2 (alcoholic fibrosis and sclerosis of the liver), K70.3 (alcoholic cirrhosis), K70.4 (alcoholic hepatic failure), K74.0 (hepatic fibrosis), K74.1 (hepatic sclerosis), K74.2 (hepatic fibrosis with hepatic sclerosis), K74.6 (other and unspecific cirrhosis of liver), K76.6 (portal hypertension), or I85 (esophageal varices).Show more—
[
  • 67 cases
  • , 1,375 controls
]
—African unspecified—PHB—
PSS000996All individuals (cases and controls) met the at-risk criteria for nonalcoholic fatty liver disease (... NAFLD) defined as a BMI ≥30 kg/m2 or diagnosis of type 2 diabetes, or both, without evidence of any other cause of liver disease including excess alcohol . Cases were individuals who had been hospitalised with cirrhosis for the first time. A hospital admission for cirrhosis was defined according to the Ratib et al (PMID: 24419483) validated algorithm incorporating appropriate ICD discharge codes and OPCS Classification of Interventions and Procedures version 4 codes.Show moreMean = 7.9 years
[
  • 562 cases
  • , 106,452 controls
]
,
43.0 % Male samples
Median = 59.0 years
Range = [52.0, 64.0] years		Not reported—UKBGRS dataset used to test/ evaluate performance of GRS. The GRS dataset is independent of the discove... ry analysis datasets containing UKB participants. Possible sample overlap between the GRS dataset and the phase 1 replication/validation analysis and phase 2 replication analysis datasets containing UKB participants.Show more
PSS007667——
[
  • 917 cases
  • , 473 controls
]
,
72.3 % Male samples
—European—GenomALC—
PSS007668——
[
  • 1,162 cases
  • , 604 controls
]
,
62.06 % Male samples
—European—GenomALC—
PSS007669——
[
  • 594 cases
  • , 6,304 controls
]
,
77.02 % Male samples
—European—UKB—
PSS011418ICD10: 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
—
PSS011709——
[
  • 121 cases
  • , 3,239 controls
]
—European—IB-liver—
PSS011710——
[
  • 470 cases
  • , 3,239 controls
]
—European—IB-liver—
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