ArticleNature genetics2015
A genome-wide association study confirms PNPLA3 and identifies TM6SF2 and MBOAT7 as risk loci for alcohol-related cirrhosis.
Registry-linked trialOpen access · greenAbstract readComparative Study
In one paragraph
Article in Nature genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT04070508 (Early Detection of Advanced Liver Fibrosis in Patients With Excessive Alcohol Intake), which is not on this map. Cited by 291 papers, 7 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
291citing papers in PubMed, 7 pooled it
23.6field-weighted citation impact, top 1% of its field
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Early Detection of Advanced Liver Fibrosis in Patients With Excessive Alcohol Intake
Who cites it
291 citing papers in PubMed, 7 syntheses or guidelines pooled it, 546 citations in OpenAlex.
- Meta-Analysis: Redefining Liver Disease Risk in Heterozygous Alpha-1 Antitrypsin Deficiency.Alimentary pharmacology & therapeutics · 2026Pooled it
- Alcohol-Associated Hepatocarcinogenesis: Wnt/β-Catenin in Action.The American journal of pathology · 2026Pooled it
- Meta-Analysis: Effects of Steatotic Liver Disease-Associated Genetic Risk Alleles on Longitudinal Outcomes.Alimentary pharmacology & therapeutics · 2025Pooled it
- Genetic variation inGut · 2023Pooled it
- Genome-wide association study of serum liver enzymes implicates diverse metabolic and liver pathology.Nature communications · 2021Pooled it
- rs641738C>T near MBOAT7 is associated with liver fat, ALT and fibrosis in NAFLD: A meta-analysis.Journal of hepatology · 2021Pooled it
- Coexistence of alcohol-related pancreatitis and alcohol-related liver disease: A systematic review and meta-analysis.Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.] · 2020Pooled it
- MASLD, diabetes and PMOS across the female life stages.Diabetologia · 2026Review
- Genetic and genomic insights across the steatotic liver disease spectrum.Clinical and molecular hepatology · 2026Review
- Alcohol-aware risk stratification and subtype-specific care pathways across metabolic dysfunction-associated steatotic liver disease, metabolic dysfunction and alcohol-associated liver disease, and alcohol-associated liver disease.Clinical and molecular hepatology · 2026Review
- High incidence of advanced liver disease and mortality in patients presenting with alcohol use disorder.Hepatology communications · 2026Article
- Mitochondrial Dysfunction in Metabolic-Syndrome-Related MASLD/MASH: Metabolic Mechanisms and Therapeutic Perspectives.Metabolites · 2026Review
- Waist-to-height ratio as a practical indicator for screening pediatric metabolic dysfunction-associated steatotic liver disease in diverse populations and genetic backgrounds.World journal of pediatrics : WJP · 2026Article
- Machine Learning Predicts Hepatocellular Carcinoma Risk from Routine Clinical Data: A Large Population-Based Multicentric Study.Cancer discovery · 2026Article
- Hepatic Lipoprotein Production, Cardiometabolic Phenotypes, and Subtypes of Steatotic Liver Disease.Circulation research · 2026Review
- Loss of the E3 ubiquitin ligase MARCHF6 alters hepatic lipid metabolism and drives spontaneous hepatosteatosis.Molecular metabolism · 2026Article
- The versatile interplay between steatotic liver disease and liver cancer.Nature reviews. Cancer · 2026Review
- Genetic and lifestyle determinants of lipid profiles in Japanese young adults: evidence from MBOAT7 rs641738.Lipids in health and disease · 2026Article
- The Alpha-1 Pi*MZ Genotype Is an Independent Risk Factor for Hepatocellular Carcinoma Development in Patients With ACLD.Alimentary pharmacology & therapeutics · 2026Article
- The global epidemiology of alcohol-associated liver disease.Hepatology communications · 2026Review
231 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
48 authors at 20 institutions in 5 countries.
Stephan BuchMedical Department 1, University Hospital Dresden, TU Dresden, Dresden, Germany.
Felix StickelDepartment of Gastroenterology and Hepatology, University Hospital of Zurich, Zurich, Switzerland.
Eric TrépoDepartment of Gastroenterology, Hepatopancreatology and Digestive Oncology, Cliniques Universitaires de Bruxelles (CUB) Hôpital Erasme, Université Libre de Bruxelles, Brussels, Belgium.ORCID http://orcid.org/0000-0003-0475-3934
Michael WayUCL Institute for Liver and Digestive Health, Division of Medicine, Royal Free Campus, University College London, London, UK.
Alexander HerrmannMedical Department 1, University Hospital Dresden, TU Dresden, Dresden, Germany.
Hans Dieter NischalkeDepartment of Internal Medicine I, University of Bonn, Bonn, Germany.
Mario BroschMedical Department 1, University Hospital Dresden, TU Dresden, Dresden, Germany.
Jonas RosendahlSection of Hepatology, University Hospital Leipzig, Leipzig, Germany.
Thomas BergSection of Hepatology, University Hospital Leipzig, Leipzig, Germany.
Monika RidingerDepartment of Psychiatry and Psychotherapy, University of Regensburg, Regensburg, Germany.
Marcella RietschelCentral Institute of Mental Health, University of Heidelberg, Faculty of Medicine Mannheim, Mannheim, Germany.
Andrew McQuillinMolecular Psychiatry Laboratory, Division of Psychiatry, University College London, London, UK.
Josef FrankCentral Institute of Mental Health, University of Heidelberg, Faculty of Medicine Mannheim, Mannheim, Germany.
Falk KieferCentral Institute of Mental Health, University of Heidelberg, Faculty of Medicine Mannheim, Mannheim, Germany.
Stefan SchreiberDepartment of Internal Medicine I, University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany.
Wolfgang LiebInstitute of Epidemiology and Biobank PopGen, Christian Albrechts University Kiel, Kiel, Germany.
Michael SoykaPsychiatric Hospital, Ludwig Maximilians University, Munich, Germany.
Nasser SemmoDepartment of Visceral Surgery and Medicine, Inselspital Bern, Bern, Switzerland.
Elmar AignerDepartment of Internal Medicine, Hospital Oberndorf, Teaching Hospital of the Paracelsus Private University of Salzburg, Salzburg, Austria.
Christian DatzDepartment of Internal Medicine, Hospital Oberndorf, Teaching Hospital of the Paracelsus Private University of Salzburg, Salzburg, Austria.
Renate SchmelzMedical Department 1, University Hospital Dresden, TU Dresden, Dresden, Germany.
Stefan BrücknerMedical Department 1, University Hospital Dresden, TU Dresden, Dresden, Germany.
Sebastian ZeissigMedical Department 1, University Hospital Dresden, TU Dresden, Dresden, Germany.
Anna-Magdalena StephanMedical Department 1, University Hospital Dresden, TU Dresden, Dresden, Germany.
Norbert WodarzDepartment of Psychiatry and Psychotherapy, University of Regensburg, Regensburg, Germany.
Jacques DevièreDepartment of Gastroenterology, Hepatopancreatology and Digestive Oncology, Cliniques Universitaires de Bruxelles (CUB) Hôpital Erasme, Université Libre de Bruxelles, Brussels, Belgium.
Nicolas ClumeckCentre Hospitalier Le Domaine, Université Libre de Bruxelles, Braine-l'Alleud, Belgium.
Christoph SarrazinDepartment of Gastroenterology, University Hospital Frankfurt, Frankfurt, Germany.
Frank LammertDepartment of Medicine II, Saarland University Hospital, Homburg, Germany.
Thierry GustotDepartment of Gastroenterology, Hepatopancreatology and Digestive Oncology, Cliniques Universitaires de Bruxelles (CUB) Hôpital Erasme, Université Libre de Bruxelles, Brussels, Belgium.
Pierre DeltenreDepartment of Gastroenterology, Hepatopancreatology and Digestive Oncology, Cliniques Universitaires de Bruxelles (CUB) Hôpital Erasme, Université Libre de Bruxelles, Brussels, Belgium.
Henry VölzkeInstitute for Community Medicine, University Medicine Greifswald, Greifswald, Germany.
Markus M LerchDepartment of Internal Medicine A, University Medicine Greifswald, Greifswald, Germany.
Julia MayerleDepartment of Internal Medicine A, University Medicine Greifswald, Greifswald, Germany.
Florian EyerDepartment of Clinical Toxicology, Klinikum Rechts der Isar, Technische Universität München, Munich, Germany.
Clemens SchafmayerDepartment of General and Thoracic Surgery, University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany.
Sven CichonDepartment of Biomedicine, University Hospital Basel, Basel, Switzerland.
Markus M NöthenInstitute of Human Genetics, University of Bonn, Bonn, Germany.
Michael NothnagelCologne Center for Genomics, University of Cologne, Cologne, Germany.
David EllinghausInstitute of Clinical Molecular Biology, Christian Albrechts University of Kiel, Kiel, Germany.
Klaus HuseFritz Lipmann Institute of Age Research (FLI), Jena, Germany.
Andre FrankeInstitute of Clinical Molecular Biology, Christian Albrechts University of Kiel, Kiel, Germany.
Steffen ZopfDepartment of Internal Medicine 1, University Hospital Erlangen, Erlangen, Germany.
Claus HellerbrandDepartment of Internal Medicine 1, University Hospital Regensburg, Regensburg, Germany.
Christophe MorenoDepartment of Gastroenterology, Hepatopancreatology and Digestive Oncology, Cliniques Universitaires de Bruxelles (CUB) Hôpital Erasme, Université Libre de Bruxelles, Brussels, Belgium.
Denis FranchimontDepartment of Gastroenterology, Hepatopancreatology and Digestive Oncology, Cliniques Universitaires de Bruxelles (CUB) Hôpital Erasme, Université Libre de Bruxelles, Brussels, Belgium.
Marsha Y MorganUCL Institute for Liver and Digestive Health, Division of Medicine, Royal Free Campus, University College London, London, UK.
Jochen HampeMedical Department 1, University Hospital Dresden, TU Dresden, Dresden, Germany.ORCID http://orcid.org/0000-0002-2421-6127
Technische Universität Dresden · DEUniversité Libre de Bruxelles · BEChristian-Albrechts-Universität zu Kiel · DEHeidelberg University · DEUniversitätsmedizin Greifswald · DEThe Royal Free Hospital · GBUniversity Hospital Leipzig · DEUniversity Hospital Schleswig-Holstein · DEUniversity of Bonn · DEUniversity of Salzburg · ATGoethe University Frankfurt · DELeibniz Institute on Aging - Fritz Lipmann Institute (FLI) · DELudwig-Maximilians-Universität München · DESaarland University · DETUM Klinikum · DEUniversitäre Psychiatrische Dienste Bern · CHUniversitätsklinikum Erlangen · DEUniversity College London · GBUniversity Hospital of Basel · CHUniversity Hospital of Bern · CH
Funding
NEI NIH HHS 01EY1103
Abstract
Alcohol misuse is the leading cause of cirrhosis and the second most common indication for liver transplantation in the Western world. We performed a genome-wide association study for alcohol-related cirrhosis in individuals of European descent (712 cases and 1,426 controls) with subsequent validation in two independent European cohorts (1,148 cases and 922 controls). We identified variants in the MBOAT7 (P = 1.03 × 10(-9)) and TM6SF2 (P = 7.89 × 10(-10)) genes as new risk loci and confirmed rs738409 in PNPLA3 as an important risk locus for alcohol-related cirrhosis (P = 1.54 × 10(-48)) at a genome-wide level of significance. These three loci have a role in lipid processing, suggesting that lipid turnover is important in the pathogenesis of alcohol-related cirrhosis.
Indexed as
Genome-Wide Association StudyAcyltransferasesAdultAgedCase-Control StudiesFemaleGenetic Predisposition to DiseaseHumansLipaseLiver Cirrhosis, AlcoholicMaleMembrane ProteinsMiddle AgedPhospholipases A2, Calcium-IndependentPolymorphism, Single NucleotideRisk FactorsAcyltransferasesLipaseMBOAT4 protein, humanMembrane ProteinsPhospholipases A2, Calcium-IndependentPNPLA3 protein, humanTM6SF2 protein, human
Identifiers
What OpenQuestion holds
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Registered trials
NCT04070508ClinicalTrials.gov
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.