| Publication Information (EuropePMC) | |
| Title | A polygenic risk score for alcohol-associated cirrhosis among heavy drinkers with European ancestry. |
| PubMed ID | 38727677(Europe PMC) |
| doi | 10.1097/hc9.0000000000000431 |
| Publication Date | May 10, 2024 |
| Journal | Hepatol Commun |
| Author(s) | Schwantes-An TH, Whitfield JB, Aithal GP, Atkinson SR, Bataller R, Botwin G, Chalasani NP, Cordell HJ, Daly AK, Darlay R, Day CP, Eyer F, Foroud T, Gawrieh S, Gleeson D, Goldman D, Haber PS, Jacquet JM, Lammert CS, Liang T, Liangpunsakul S, Masson S, Mathurin P, Moirand R, McQuillin A, Moreno C, Morgan MY, Mueller S, Müllhaupt B, Nagy LE, Nahon P, Nalpas B, Naveau S, Perney P, Pirmohamed M, Seitz HK, Soyka M, Stickel F, Thompson A, Thursz MR, Trépo E, Morgan TR, Seth D, GenomALC Consortium. |
| 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) |
|---|---|---|---|---|---|---|
| PGS004913 (PRSALC) |
PGP000645 | Schwantes-An TH et al. Hepatol Commun (2024) |
Alcohol-associated liver cirrhosis | alcoholic liver cirrhosis | 20 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004913/ScoringFiles/PGS004913.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 |
|---|---|---|---|---|---|---|---|---|---|
| PPM021374 | PGS004913 (PRSALC) |
PSS011711| European Ancestry| 9,448 individuals |
PGP000645 | Schwantes-An TH et al. Hepatol Commun (2024) |
Reported Trait: Alcohol-associated liver cirrhosis | — | — | R²: 0.02 Odds ratio (OR, top vs bottom PRS deciles): 2.75 [1.79, 4.21] |
Age, sex, 10 PCs | — |
| PPM021375 | PGS004913 (PRSALC) |
PSS011709| European Ancestry| 3,360 individuals |
PGP000645 | Schwantes-An TH et al. Hepatol Commun (2024) |
Reported Trait: Alcohol-associated liver cirrhosis | — | — | R²: 0.029 Odds ratio (OR, top vs bottom PRS deciles): 4.4 [1.56, 12.44] |
Age, sex, 10 PCs | — |
| PPM021376 | PGS004913 (PRSALC) |
PSS011710| European Ancestry| 3,709 individuals |
PGP000645 | Schwantes-An TH et al. Hepatol Commun (2024) |
Reported Trait: Metabolic dysfunction-associated steatotic liver disease cirrhosis | — | — | Odds ratio (OR, top vs bottom PRS deciles): 3.94 [2.23, 6.95] | Age, sex, BMI, 10 PCs | — |
|
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 |
|---|---|---|---|---|---|---|---|---|
| PSS011709 | — | — | [
|
— | European | — | IB-liver | — |
| PSS011710 | — | — | [
|
— | European | — | IB-liver | — |
| PSS011711 | Cirrhosis cases were defined as having ICD10 code K70.3; “alcohol-associated cirrhosis of liver', or ICD-9 code 571.2, “Cirrhosis, liver, alcohol-associated or ICD10 code K70.1; “alcoholic hepatitis without ascites” or ICD-9 code 571.1, “acute alcoholic hepatitis.” Controls were defined as having (1) reported alcohol intake of ≥80 g/d (males) and ≥50 g/d (females) and/or (2) ICD10 diagnosis of F10.2 (mental and behavioral disorders due to alcohol) but with no recorded diagnosis of any liver disease as defined previously | — | [
|
— | European | — | UKB | — |