Publication Information (EuropePMC) | |
Title | Association of genetic variation with cirrhosis: a multi-trait genome-wide association and gene-environment interaction study. |
PubMed ID | 33310085(Europe PMC) |
doi | 10.1053/j.gastro.2020.12.011 |
Publication Date | Dec. 10, 2020 |
Journal | Gastroenterology |
Author(s) | Emdin CA, Haas M, Ajmera V, Simon TG, Homburger J, Neben C, Jiang L, Wei WQ, Feng Q, Zhou A, Denny J, Corey K, Loomba R, Kathiresan S, Khera AV. |
Polygenic Score (PGS) ID | PGS Name | PGS Publication (PGP) ID | Reported Trait | Mapped Trait(s) (Ontology) | Number of Variants | PGS Scoring File (FTP Link) |
---|---|---|---|---|---|---|
PGS000726 | PGS12_CIR | PGP000136 Emdin CA et al. Gastroenterology (2020) | Cirrhosis | cirrhosis of liver | 12 | http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000726/ScoringFiles/PGS000726.txt.gz |
PGS Performance Metric ID (PPM ID) |
Evaluated Score |
PGS Sample Set ID (PSS ID) |
Performance Source | Trait |
PGS Effect Sizes (per SD change) |
PGS Classification Metrics | Other Metrics | Covariates Included in the Model | PGS Performance: Other Relevant Information |
---|---|---|---|---|---|---|---|---|---|
PPM001656 | PGS000726 (PGS12_CIR) |
PSS000861 | PGP000136 Emdin CA et al. (2020) | Reported Trait: Cirrhosis | OR: 1.32 | — | Odds Ratio (OR, top 20% vs. bottom 20%): 2.26 [1.87, 2.73] | Age, sex, PCs (1-5) | — |
PPM001657 | PGS000726 (PGS12_CIR) |
PSS000861 | PGP000136 Emdin CA et al. (2020) | Reported Trait: Biopsy-confirmed cirrhosis | OR: 1.39 | — | Odds Ratio (OR, top 20% vs. bottom 20%): 2.21 [1.59, 3.08] | Age, sex, PCs (1-5) | — |
PPM001658 | PGS000726 (PGS12_CIR) |
PSS000861 | PGP000136 Emdin CA et al. (2020) | Reported Trait: Esophageal varices | OR: 1.45 | — | Odds Ratio (OR, top 20% vs. bottom 20%): 3.1 [1.97, 4.9] | Age, sex, PCs (1-5) | — |
PPM001659 | PGS000726 (PGS12_CIR) |
PSS000861 | PGP000136 Emdin CA et al. (2020) | Reported Trait: Hepatocellular carcioma | OR: 1.39 | — | Odds Ratio (OR, top 20% vs. bottom 20%): 2.51 [1.59, 3.97] | Age, sex, PCs (1-5) | — |
PPM001660 | PGS000726 (PGS12_CIR) |
PSS000861 | PGP000136 Emdin CA et al. (2020) | Reported Trait: Death from liver disease | OR: 1.29 | — | Odds Ratio (OR, top 20% vs. bottom 20%): 2.03 [1.24, 3.32] | Age, sex, PCs (1-5) | — |
PPM001661 | PGS000726 (PGS12_CIR) |
PSS000866 | PGP000136 Emdin CA et al. (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) | — |
PPM001662 | PGS000726 (PGS12_CIR) |
PSS000863 | PGP000136 Emdin CA et al. (2020) | Reported Trait: Cirrhosis | — | — | Odds Ratio (OR, top 1% vs. bottom 20%): 3.16 [2.03, 4.9] | Age, sex, PCs (1-5) | — |
PPM001663 | PGS000726 (PGS12_CIR) |
PSS000862 | PGP000136 Emdin CA et al. (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) | — |
PPM001664 | PGS000726 (PGS12_CIR) |
PSS000864 | PGP000136 Emdin CA et al. (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) | — |
PPM001665 | PGS000726 (PGS12_CIR) |
PSS000865 | PGP000136 Emdin CA et al. (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) | — |
PGS Sample Set ID (PSS ID) |
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 |
---|---|---|---|---|---|---|---|---|
PSS000861 | Cases included individuals with cirrhosis, biopsy confirmed cirrhosis and/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). | — | [
|
— | European | — | PHB | — |
PSS000862 | Cases included individuals with cirrhosis, biopsy confirmed cirrhosis and/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). | — | [
|
— | NR | — | PHB | — |
PSS000863 | Cases included individuals with cirrhosis, biopsy confirmed cirrhosis and/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). | — | [
|
— | NR | — | PHB | — |
PSS000864 | All individuals had hepatitis B. Cases included individuals cirrhosis, biopsy confirmed cirrhosis and/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). | — | [
|
— | European | — | PHB | — |
PSS000865 | All individuals had hepatitis B. Cases included individuals cirrhosis, biopsy confirmed cirrhosis and/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). | — | [
|
— | European | — | PHB | — |
PSS000866 | Cases included individuals with cirrhosis, biopsy confirmed cirrhosis and/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). | — | [
|
— | African unspecified | — | PHB | — |