| Publication Information (EuropePMC) | |
| Title | Genome-Wide Association Study for Alcohol-Related Cirrhosis Identifies Risk Loci in MARC1 and HNRNPUL1. |
| PubMed ID | 32561361(Europe PMC) |
| doi | 10.1053/j.gastro.2020.06.014 |
| Publication Date | June 16, 2020 |
| Journal | Gastroenterology |
| Author(s) | Innes H, Buch S, Hutchinson S, Guha IN, Morling JR, Barnes E, Irving W, Forrest E, Pedergnana V, Goldberg D, Aspinall E, Barclay S, Hayes PC, Dillon J, Nischalke HD, Lutz P, Spengler U, Fischer J, Berg T, Brosch M, Eyer F, Datz C, Mueller S, Peccerella T, Deltenre P, Marot A, Soyka M, McQuillin A, Morgan MY, Hampe J, Stickel F. |
| 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) |
|---|---|---|---|---|---|---|
| PGS000776 (GRS9_Cirr) |
PGP000180 | Innes H et al. Gastroenterology (2020) |
Cirrhosis | cirrhosis of liver | 9 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000776/ScoringFiles/PGS000776.txt.gz |
|
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 |
|---|---|---|---|---|---|---|---|---|---|
| PPM002011 | PGS000776 (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] | — | — |
| PPM002012 | PGS000776 (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 | — |
| PPM002013 | PGS000776 (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 | — |
|
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 |
|---|---|---|---|---|---|---|---|---|
| PSS000996 | All 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. | Mean = 7.9 years | [ ,
43.0 % Male samples |
Median = 59.0 years Range = [52.0, 64.0] years |
Not reported | — | UKB | GRS dataset used to test/ evaluate performance of GRS. The GRS dataset is independent of the discovery 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. |