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Atlas / Disease / Alcoholic liver disease

Alcoholic liver disease

disease
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Also known as alcoholic liver damagealcoholic liver diseasesliver disease, alcoholic

Summary

Alcoholic liver disease (MONDO:0043693) is a disease with 126 GWAS associations across 19 studies and 44 clinical trials. Top therapeutic interventions include alcohol, baclofen, and choline. A subtype of liver disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

  • GWAS associations: 126
  • Clinical trials: 44

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

FieldValue
Canonical namealcoholic liver disease
Mondo IDMONDO:0043693
EFOEFO:0008573
MeSHD008108
DOIDDOID:0070658
ICD-10-CMK70
ICD-11469481605
NCITC34783
SNOMED CT41309000
UMLSC0023896
MedGen9793
Is cancer (heuristic)no

Also known as: alcoholic liver damage · alcoholic liver disease · alcoholic liver diseases · liver disease, alcoholic

Data availability: 126 GWAS associations (19 studies).

Disease family

This is a subtype of liver disorder. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by body system or component › digestive system disorder › hepatobiliary disorder › liver disorder › alcoholic liver disease

Related subtypes (31): polycystic echinococcosis, autosomal dominant polycystic liver disease, hepatorenal syndrome, hepatitis, hepatic vascular disorder, hepatic porphyria, hepatopulmonary syndrome, fatty liver disease, cirrhosis of liver, drug-induced liver injury, perinatal jaundice due to hepatocellular damage, Aagenaes syndrome, transient familial neonatal hyperbilirubinemia, hyperbiliverdinemia, transient infantile hypertriglyceridemia and hepatosteatosis, idiopathic copper-associated cirrhosis, familial intrahepatic cholestasis, bile duct cyst, nodular regenerative hyperplasia of the liver, hepatoportal sclerosis, primitive portal vein thrombosis, glycogen storage disease due to liver phosphorylase kinase deficiency, liver and intrahepatic bile duct neoplasm, early-onset familial noncirrhotic portal hypertension, liver failure, fibrotic liver disease, intestinal failure–associated liver disease, liver abscess (disease), membranous obstruction of inferior vena cava, liver disease, severe congenital, cystic fibrosis-related liver disease

Subtypes (3): alcoholic hepatitis, alcoholic liver cirrhosis, alcoholic fatty liver disease

Genetics & variants

GWAS landscape

126 GWAS associations across 19 studies. Top hits map to 34 distinct genes (as reported by GWAS).

Top associations by p-value

rsIDp-valueGeneRisk alleleOdds ratio
rs7384093e-121PNPLA3C0.35
rs37472073e-101PNPLA3G0.39
rs12299843e-48ADH1BT0.78
rs37828861e-43BRAP?0.64
rs46467761e-43ALDH2?0.65
rs780690662e-43MAPKAPK5, ADAM1A?0.64
rs110661321e-42NAA25?0.64
rs122317372e-42TRAFD1?0.63
rs777681753e-42HECTD4?0.63
chr12:1113989672e-41?0.65
chr12:1124690692e-41?0.63
rs23308054e-29GGT1?1.59
rs777530119e-29RPH3A?0.56
rs1496075191e-27MYL2, VHRT?0.57
rs38092976e-26CUX2?0.53
rs791052585e-25CUX2?0.48
rs57604912e-18GGT1?1.58
rs20060942e-17GGT1?1.59
rs585429262e-17TM6SF2C0.21
rs22949154e-17PNPLA3C0.3
rs22381531e-14ATXN2?0.28
rs30264181e-13IFT81 - ATP2A2?0.35
rs20667024e-13ADH1BG0.31
rs1429154232e-12C12orf76?0.34
rs11839105e-12HNF1A?0.75
rs12593085137e-12ANAPC7 - HMGA1P3?0.31
rs110664531e-11OAS1?0.35
rs131196543e-11HSD17B13G0.11
rs1453843855e-10PPP1CC - RPL29P25?0.48
rs100247593e-09ZNF827?1.27

Top studies (by case count)

StudyLead authorYearCasesControlsTitle
GCST90476526Verma A20248,291438,022Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90476525Verma A20242,375117,786Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90480766Verma A20242,375117,786Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90473869UK Biobank Whole-Genome Sequencing Consortium20252,247456,193Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90476524Verma A20241,81457,132Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90651116Liu TY20251,633230,991Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population.
GCST90651152Liu TY20251,633230,991Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population.
GCST90091207Kim KY20211,37913,132Genome-wide association of individual vulnerability with alcoholic liver disease: A Korean Genome and Epidemiology Study.
GCST90091208Kim KY20211,1852,246Genome-wide association of individual vulnerability with alcoholic liver disease: A Korean Genome and Epidemiology Study.
GCST90080283Backman JD20211,120386,551Exome sequencing and analysis of 454,787 UK Biobank participants.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

TierVariants
Tier 1: coding6
Tier 2: splice/UTR2
Tier 3: regulatory1
Tier 4: intronic/intergenic41

MAF distribution

BucketVariants
common (>=0.05)41
low_freq (0.01-0.05)1
rare (<0.01)0
unknown8

Functional consequences

ConsequenceCount
intron_variant33
missense_variant5
intergenic_variant5
3_prime_UTR_variant2
unknown2
synonymous_variant1
stop_gained1
regulatory_region_variant1

Top variants

rsIDChrPosAllelesMAFConsequenceGenep-valueTier
rs7384092243928847C>A,G,T0.226missense_variantPNPLA33e-121Tier 1: coding
rs37472072243928975G>A,C,T0.218intron_variantPNPLA33e-101Tier 4: intronic/intergenic
rs1229984499318162T>A,C,G0.034missense_variantADH1B3e-48Tier 1: coding
rs378288612111672685T>A,C,G0.05synonymous_variantBRAP1e-43Tier 4: intronic/intergenic
rs464677612111792215G>A,C0.05intron_variantALDH21e-43Tier 4: intronic/intergenic
rs7806906612111900120G>A0.053_prime_UTR_variantMAPKAPK5, ADAM1A2e-43Tier 2: splice/UTR
rs1106613212112030402C>T0.05intron_variantNAA251e-42Tier 4: intronic/intergenic
rs1223173712112136812C>T0.05intron_variantTRAFD12e-42Tier 4: intronic/intergenic
rs7776817512112298314A>G0.05intron_variantHECTD43e-42Tier 4: intronic/intergenic
chr12:1113989672e-41Tier 4: intronic/intergenic
chr12:1124690692e-41Tier 4: intronic/intergenic
rs23308052224602652A>G,T0.05intron_variantGGT14e-29Tier 4: intronic/intergenic
rs7775301112112680092G>A,T0.05intergenic_variantRPH3A9e-29Tier 4: intronic/intergenic
rs14960751912110951633C>A,G0.05intron_variantMYL2, VHRT1e-27Tier 4: intronic/intergenic
rs380929712111171923G>A,C,T0.05intron_variantCUX26e-26Tier 4: intronic/intergenic
rs7910525812111280427C>A,T0.05intron_variantCUX25e-25Tier 4: intronic/intergenic
rs57604912224599167G>A,C,T0.05intron_variantGGT12e-18Tier 4: intronic/intergenic
rs20060942224601119G>A,C0.05intron_variantGGT12e-17Tier 4: intronic/intergenic
rs585429261919268740C>A,T0.065stop_gainedTM6SF22e-17Tier 1: coding
rs22949152243945024C>G,T0.413intron_variantPNPLA34e-17Tier 4: intronic/intergenic
rs223815312111501743G>A0.05intron_variantATXN21e-14Tier 4: intronic/intergenic
rs302641812110245422T>C0.05intron_variantIFT81 - ATP2A21e-13Tier 4: intronic/intergenic
rs2066702499307860G>A,C0.191missense_variantADH1B4e-13Tier 1: coding
rs14291542312110043004C>A,T0.05intron_variantC12orf762e-12Tier 4: intronic/intergenic
rs118391012120983004G>A,C,T0.05intron_variantHNF1A5e-12Tier 4: intronic/intergenic
rs125930851312110423510GTGAT>G0.05intron_variantANAPC7 - HMGA1P37e-12Tier 4: intronic/intergenic
rs1106645312112927816A>G0.05intron_variantOAS11e-11Tier 4: intronic/intergenic
rs13119654487318701G>A0.248intron_variantHSD17B133e-11Tier 4: intronic/intergenic
rs14538438512110826620AT>A0.05regulatory_region_variantPPP1CC - RPL29P255e-10Tier 3: regulatory
rs100247594145876386A>G0.05intron_variantZNF8273e-09Tier 4: intronic/intergenic

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

Drugs indicated for this disease

0 approved, 2 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

DrugDevelopment status
AmoxicillinPhase 3 (in late-stage trials)
PrednisolonePhase 3 (in late-stage trials)

Clinical trials & evidence

Clinical trials

Clinical trials: 44.

Phase distribution (across all retrieved trials)

PhaseTrials
Not specified33
PHASE34
PHASE43
PHASE1/PHASE21
PHASE21
PHASE11
EARLY_PHASE11

Top trials by phase / activity

NCTPhaseStatusTitle
NCT01501162PHASE4COMPLETEDEffect of Probiotics on Gut-Liver Axis of Alcoholic Liver Disease
NCT02331745PHASE4UNKNOWNRCT Study on Granulocyte Colony-stimulating Factor(G-CSF) Treatment of Hepatic Failure
NCT02335632PHASE4UNKNOWNEffect of Probiotics on Gut-Liver Axis of Alcoholic Hepatitis
NCT00573313PHASE3COMPLETEDEffects of SAMe in Patients With Alcoholic Liver Disease
NCT01214226PHASE3COMPLETEDDouble-blind Randomized Controlled Trial in Severe Alcoholic Hepatitis
NCT01711125PHASE3COMPLETEDBaclofen in the Treatment of Alcohol Dependence With or Without Alcoholic Liver Disease
NCT02281929PHASE3COMPLETEDEfficacy of Antibiotic Therapy in Severe Alcoholic Hepatitis Treated With Prednisolone
NCT00990639PHASE1/PHASE2COMPLETEDEffect of Candesartan in Alcoholic Liver Fibrosis
NCT01504295PHASE2COMPLETEDA Novel Pharmacotherapy for Alcoholism and Alcohol Liver Disease
NCT04736966PHASE1COMPLETEDGuselkumab (Anti-IL 23 Monoclonal Antibody) for Alcohol Associated Liver Disease
NCT05428072EARLY_PHASE1COMPLETEDAlcohol, Gut Leakiness, & Liver Disease
NCT03113929Not specifiedACTIVE_NOT_RECRUITINGQuantitative MRI for Non-invasive Assessment of Severity of Alcoholic Liver Disease (ALD)
NCT03209791Not specifiedRECRUITINGEthanol Induces Skeletal Muscle Autophagy
NCT03267069Not specifiedRECRUITINGEvaluating Alcohol Use in Alcoholic Liver Disease
NCT03503708Not specifiedNOT_YET_RECRUITINGHerbal Supplements for Improvement of Liver Function in Participants With Alcoholic Liver Disease
NCT03863730Not specifiedACTIVE_NOT_RECRUITINGProfermin®: Prevention of Progression in Alcoholic Liver Disease by Modulating Dysbiotic Microbiota
NCT04106518Not specifiedRECRUITINGStudy of Genetic Determinants in Alcoholic Hepatitis and Establishment of a Multicenter Prospective Cohort of Patients With Alcoholic Liver Disease
NCT04320199Not specifiedRECRUITINGEffect of Fermented Protaetia Brevitarsis Seulensis Powder on Alcohol-induced Liver Disease
NCT04400604Not specifiedRECRUITINGStudy of Alcohol-related Liver Disease in Europe
NCT04666402Not specifiedRECRUITINGIntegrated Diagnostics for Early Diagnosis of Liver Disease
NCT04858412Not specifiedRECRUITINGStudy of HMB-enriched Amino Acid Supplementation in Patients With Alcoholic Liver Disease and COVID-19
NCT05007470Not specifiedACTIVE_NOT_RECRUITINGAlcoholic Liver Disease and the Gut Microbiome
NCT05699018Not specifiedRECRUITINGScreening in Primary Care of Advanced Liver Fibrosis in NAFLD And/or Alcoholic Patients
NCT05855031Not specifiedRECRUITINGThe Liver Care Trial
NCT05895890Not specifiedRECRUITINGFrench National MICMAF Cohort
NCT06307964Not specifiedRECRUITINGIntra-Hepatic Microbiota in Alcoholic Hepatitis
NCT00610597Not specifiedCOMPLETEDStudy of T Cell Phenotype Activation Pathway in Human Alcoholic Liver Disease
NCT00708617Not specifiedCOMPLETEDFIBROSCAN Validation and Interest of Fibrotest - FIBROSCAN Association for Fibrosis Diagnosis in Alcoholic Liver Disease
NCT00770198Not specifiedCOMPLETEDsgp130 in Chronic Human Liver Disease
NCT01122797Not specifiedCOMPLETEDInfluence of Adiponutrin in Chronic Liver Disease
NCT01128010Not specifiedCOMPLETEDRole of CCL2 in Alcoholic Liver Diseases
NCT01701687Not specifiedCOMPLETEDBiomarkers for the Prognosis of Decompensated Alcoholic Liver Disease
NCT02140294Not specifiedCOMPLETEDLong Term Effect of Aggressive Nutritional Management on Survival in Patients With Alcoholic Liver Disease
NCT02381769Not specifiedCOMPLETEDTHE IMMUNOLOGICAL EFFECTS AND METABOLIC TOLERANCE OF LIPID INFUSION IN PATIENTS WITH CIRRHOSIS.
NCT02796469Not specifiedCOMPLETEDMeta-Analysis of Drug Therapy in Patients With Severe Alcoholic Hepatitis
NCT03295812Not specifiedUNKNOWNStratification of Chronic Alcoholic Liver Diseases (SCALE Study)
NCT03402256Not specifiedCOMPLETEDText Messaging to Reduce Alcohol Relapse in Liver Transplant Patients
NCT03508388Not specifiedTERMINATEDValue on Survival of Liver Volume After an Acute Decompensation of an Alcoholic Cirrhosis
NCT03915002Not specifiedCOMPLETEDIntegrated Approaches for Identifying Molecular Targets in Liver Disease
NCT03938662Not specifiedUNKNOWNS-adenosylmethionine Plus Choline in Treatment of Patients With Alcoholic Liver Disease

Drugs tested across these trials (top 30)

MoleculeMax phaseTrials referencing
ALCOHOL41
BACLOFEN41
CHOLINE41
GUSELKUMAB41
PENTOXIFYLLINE41
PYRIDOXINE41
ADEMETIONINE31
CHEMBL123583101

About this page

Generated deterministically by Sugi Atlas from primary biomedical databases via BioBTree. Every record on this page traces to a primary source.

Generated
Atlas version
v1.1.2
BioBTree
v2.0.2

Sources 23

This page pulls from 23 datasets indexed by BioBTree:

chembl_moleculecivic_evidenceclinical_trialsclinvardbsnpdoidefogenccgwasgwas_studyhgncicd10cmicd11medgenmeshmimmondomondochildmondoparentncitorphanetsctidumls