ArticleJournal of hepatology2022
A genetic risk score and diabetes predict development of alcohol-related cirrhosis in drinkers.
Article in Journal of hepatology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 40 papers, 1 of them a synthesis that pooled it.
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Who cites it
40 citing papers in PubMed, 1 synthesis or guideline pooled it, 75 citations in OpenAlex.
- Racial and ethnic disparities in alcohol-associated liver disease in the United States: A systematic review and meta-analysis.Hepatology communications · 2024Pooled it
- Age-Specific Associations of Polygenic Risk Scores With Advanced Fibrosis and Histological Activity in Biopsy-Proven MASLD.Liver international : official journal of the International Association for the Study of the Liver · 2026Article
- Genetic and genomic insights across the steatotic liver disease spectrum.Clinical and molecular hepatology · 2026Review
- Racial Disparities in Clinical and Cardiometabolic Outcomes Among Patients with Alcohol-Associated Liver Disease.Digestive diseases and sciences · 2026Article
- The versatile interplay between steatotic liver disease and liver cancer.Nature reviews. Cancer · 2026Review
- Novel biomarkers for alcohol-associated liver disease and their implications across clinical settings.Clinical and molecular hepatology · 2026Review
- Genetic and non-genetic drivers of histological progression and regression in MASLD.Journal of hepatology · 2026Article
- New understanding of the molecular pathogenesis and therapeutic progress of hepatocellular carcinoma.Oncology reviews · 2026Review
- An Update on IL-22 Therapies in Alcohol-Associated Liver Disease and Beyond.The American journal of pathology · 2026Review
- Alcohol-related liver disease and access to liver transplantation: where we stand and where we should go.Transplant international : official journal of the European Society for Organ Transplantation · 2026Article
- Genetic risk of alcohol-related liver cirrhosis: Associations ofBiomolecules & biomedicine · 2025Article
- Non-invasive tests for MetALD and alcohol-related liver disease.JHEP reports : innovation in hepatology · 2025Review
- Genetic risk score correlates with immune profile and risk of HCC and cirrhosis development in Hispanics with MASLD.JHEP reports : innovation in hepatology · 2025Article
- Genomic approaches to explore susceptibility and pathogenesis of alcohol use disorder and alcohol-associated liver disease.Hepatology (Baltimore, Md.) · 2025Review
- Metabolic dysfunction and alcohol-related liver disease (MetALD): Position statement by an expert panel on alcohol-related liver disease.Journal of hepatology · 2025Review
- Alcohol-associated liver disease: Natural history, management and novel targeted therapies.Clinical and molecular hepatology · 2025Review
- Acetylation of E2F1 at K125 facilitates cell apoptosis under serum stress.Translational oncology · 2025Article
- Association between alcohol consumption and risk of type 2 diabetes in Japan: a population-base longitudinal cohort study.Scientific reports · 2025Article
- Alcohol-related liver disease.Gastroenterology report · 2025Review
- Biomarkers for diagnosis and therapeutic options in hepatocellular carcinoma.Molecular cancer · 2024Review
Corrections and comments
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- Erratum issued
Authors and funding
42 authors at 20 institutions in 7 countries.
Funding
Abstract
BACKGROUND &
aimsOnly a minority of excess alcohol drinkers develop cirrhosis. We developed and evaluated risk stratification scores to identify those at highest risk.
methodsThree cohorts (GenomALC-1: n = 1,690, GenomALC-2: n = 3,037, UK Biobank: relevant n = 6,898) with a history of heavy alcohol consumption (≥80 g/day (men), ≥50 g/day (women), for ≥10 years) were included. Cases were participants with alcohol-related cirrhosis. Controls had a history of similar alcohol consumption but no evidence of liver disease. Risk scores were computed from up to 8 genetic loci identified previously as associated with alcohol-related cirrhosis and 3 clinical risk factors. Score performance for the stratification of alcohol-related cirrhosis risk was assessed and compared across the alcohol-related liver disease spectrum, including hepatocellular carcinoma (HCC).
resultsA combination of 3 single nucleotide polymorphisms (SNPs) (PNPLA3:rs738409, SUGP1-TM6SF2:rs10401969, HSD17B13:rs6834314) and diabetes status best discriminated cirrhosis risk. The odds ratios (ORs) and (95% CIs) between the lowest (Q1) and highest (Q5) score quintiles of the 3-SNP score, based on independent allelic effect size estimates, were 5.99 (4.18-8.60) (GenomALC-1), 2.81 (2.03-3.89) (GenomALC-2), and 3.10 (2.32-4.14) (UK Biobank). Patients with diabetes and high risk scores had ORs of 14.7 (7.69-28.1) (GenomALC-1) and 17.1 (11.3-25.7) (UK Biobank) compared to those without diabetes and with low risk scores. Patients with cirrhosis and HCC had significantly higher mean risk scores than patients with cirrhosis alone (0.76 ± 0.06 vs. 0.61 ± 0.02, p = 0.007). Score performance was not significantly enhanced by information on additional genetic risk variants, body mass index or coffee consumption.
conclusionsA risk score based on 3 genetic risk variants and diabetes status enables the stratification of heavy drinkers based on their risk of cirrhosis, allowing for the provision of earlier preventative interventions. LAY SUMMARY: Excessive chronic drinking leads to cirrhosis in some people, but so far there is no way to identify those at high risk of developing this debilitating disease. We developed a genetic risk score that can identify patients at high risk. The risk of cirrhosis is increased >10-fold with just two risk factors - diabetes and a high genetic risk score. Risk assessment using this test could enable the early and personalised management of this disease in high-risk patients.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.