SynthesisNature genetics2023
Genome-wide association meta-analysis identifies 17 loci associated with nonalcoholic fatty liver disease.
Registry-linked trialOpen access · greenAbstract readMeta-Analysis
In one paragraph
Synthesis in Nature genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT07748130 (The Effect of Coenzyme Q10 on Quantitative Changes in Hepatic Fat in Patients With Mitochondrial Diabetes), which is not on this map. Cited by 128 papers, 5 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
128citing papers in PubMed, 5 pooled it
40.6field-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.
The Effect of Coenzyme Q10 on Quantitative Changes in Hepatic Fat in Patients With Mitochondrial Diabetes
Who cites it
128 citing papers in PubMed, 5 syntheses or guidelines pooled it, 183 citations in OpenAlex.
- Integrative genetic and liver transcriptomic analyses identify TRIB1AL as a target for steatotic liver disease.The Journal of clinical endocrinology and metabolism · 2026Pooled it
- Cross-ancestry genome-wide association studies of liver function biomarkers uncover pleiotropic variants, systemic disease links and therapeutic targets.Genome medicine · 2026Pooled it
- Association between PNPLA3 rs738409 and susceptibility to etiology-specific liver cirrhosis: a systematic review and meta-analysis.BMC medical genomics · 2026Pooled it
- Meta-Analysis: Effects of Steatotic Liver Disease-Associated Genetic Risk Alleles on Longitudinal Outcomes.Alimentary pharmacology & therapeutics · 2025Pooled it
- A common variant that alters SUN1 degradation associates with hepatic steatosis and metabolic traits in multiple cohorts.Journal of hepatology · 2023Pooled it
- Genetics of MASLD: a diabetes perspective.Diabetologia · 2026Review
- Polygenic Risk Scores Show Distinct Genetic Architectures of IBD-Associated Comorbidities.Digestive diseases and sciences · 2026Article
- 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
- OPA1 controls mitochondrial dysfunction-driven liver fibrosis in MASLD.bioRxiv : the preprint server for biology · 2026Article
- Subtyping metabolic dysfunction-associated steatotic liver disease using electronic health record-linked genomic cohorts reveals diverse etiologies and progression.Nature communications · 2026Article
- Paediatric proteomic signatures of cardiometabolic disease-associated traits predict adult disease outcomes.Nature metabolism · 2026Article
- Genetic and genomic insights across the steatotic liver disease spectrum.Clinical and molecular hepatology · 2026Review
- Association Between ADH1B rs1229984 Genetic Polymorphism and Hepatic Steatosis Assessed by CT Attenuation: A Mediation Analysis of Central Obesity in MASLD.Journal of gastroenterology and hepatology · 2026Article
- European Society for Pediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN) steatotic liver disease special interest group position paper on screening, diagnosis and investigation of paediatric metabolic dysfunction-associated steatotic liver disease.Journal of pediatric gastroenterology and nutrition · 2026Article
- Genetically Determined Loss-of-Function of the Organic Cation Transporter OCT1 Is Associated with Lower Liver Fat Content in Humans.International journal of molecular sciences · 2026Article
- Genome-wide association study identifies toll-like receptor four protein-mediated metabolic remodelling affecting gout pathogenesis.Journal of global health · 2026Observational
- Beyond Fat: Reframing MASLD Through Genetics, Clonal Biology, and Precision Hepatology.Pharmaceuticals (Basel, Switzerland) · 2026Review
- Genome-wide association and polygenic risk score analyses of MASLD-related hepatic steatosis severity in a Taiwanese Han population.Cell & bioscience · 2026Article
- Lifespan approaches for the prevention and management of steatotic liver disease.Nature reviews. Gastroenterology & hepatology · 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
68 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
37 authors at 11 institutions in 3 countries.
Yanhua Chen *Department of Internal Medicine, Division of Gastroenterology and Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI, USA.
Xiaomeng Du *Department of Internal Medicine, Division of Gastroenterology and Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI, USA.
Annapurna KuppaDepartment of Internal Medicine, Division of Gastroenterology and Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI, USA.ORCID http://orcid.org/0000-0002-7271-063X
Mary F FeitosaDivision of Statistical Genomics, Department of Genetics, Washington University School of Medicine, St. Louis, MO, USA.ORCID http://orcid.org/0000-0002-0933-2410
Lawrence F BielakDepartment of Epidemiology, School of Public Health, University of Michigan, Ann Arbor, MI, USA.ORCID http://orcid.org/0000-0002-3443-8030
Jeffrey R O'ConnellDepartment of Endocrinology, Diabetes and Nutrition, University of Maryland - Baltimore, Baltimore, MD, USA.
Solomon K MusaniDepartment of Medicine, University of Mississippi Medical Center, Jackson, MS, USA.
Xiuqing GuoThe Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA, USA.ORCID http://orcid.org/0000-0002-5264-5068
Bratati KahaliDepartment of Internal Medicine, Division of Gastroenterology and Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI, USA.
Vincent L ChenDepartment of Internal Medicine, Division of Gastroenterology and Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI, USA.ORCID http://orcid.org/0000-0002-0157-6066
Albert V SmithDepartment of Biostatistics, University of Michigan, Ann Arbor, MI, USA.ORCID http://orcid.org/0000-0003-1942-5845
Kathleen A RyanDepartment of Endocrinology, Diabetes and Nutrition, University of Maryland - Baltimore, Baltimore, MD, USA.ORCID http://orcid.org/0000-0003-1158-8455
Gudny EirksdottirIcelandic Heart Association, Kopavogur, Iceland.
Matthew A AllisonDepartment of Family Medicine, University of California San Diego, San Diego, CA, USA.
Donald W BowdenDepartment of Biochemistry, Wake Forest University School of Medicine, Winston-Salem, NC, USA.
Matthew J BudoffDepartment of Internal Medicine, Lundquist Institute at Harbor-UCLA, Torrance, CA, USA.
John Jeffrey CarrDepartment of Radiology, Vanderbilt University School of Medicine, Nashville, TN, USA.ORCID http://orcid.org/0000-0002-4398-8237
Yii-Der I ChenThe Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA, USA.ORCID http://orcid.org/0000-0003-1741-3517
Kent D TaylorThe Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA, USA.
Antonino OliveriDepartment of Internal Medicine, Division of Gastroenterology and Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI, USA.ORCID http://orcid.org/0000-0003-2621-6443
Adolfo CorreaDepartment of Medicine, University of Mississippi Medical Center, Jackson, MS, USA.ORCID http://orcid.org/0000-0002-9501-600X
Breland F CrudupDepartment of Medicine, University of Mississippi Medical Center, Jackson, MS, USA.
Sharon L R KardiaDepartment of Epidemiology, School of Public Health, University of Michigan, Ann Arbor, MI, USA.
Thomas H MosleyDepartment of Medicine, University of Mississippi Medical Center, Jackson, MS, USA.
Jill M NorrisDepartment of Epidemiology, Colorado School of Public Health, Aurora, CO, USA.ORCID http://orcid.org/0000-0001-8674-2598
James G TerryDepartment of Radiology, Vanderbilt University School of Medicine, Nashville, TN, USA.
Jerome I RotterThe Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA, USA.ORCID http://orcid.org/0000-0001-7191-1723
Lynne E WagenknechtDivision of Public Health Sciences, Wake Forest University School of Medicine, Winston-Salem, NC, USA.
Brian D HalliganDepartment of Internal Medicine, Division of Gastroenterology and Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI, USA.ORCID http://orcid.org/0000-0002-9553-4253
Kendra A YoungDepartment of Epidemiology, Colorado School of Public Health, Aurora, CO, USA.ORCID http://orcid.org/0000-0002-8664-7635
John E HokansonDepartment of Epidemiology, Colorado School of Public Health, Aurora, CO, USA.
George R WashkoDepartment of Medicine, Division of Pulmonary and Critical Care, Brigham and Women's Hospital, Boston, MA, USA.
Vilmundur GudnasonIcelandic Heart Association, Kopavogur, Iceland.ORCID http://orcid.org/0000-0001-5696-0084
Michael A ProvinceDivision of Statistical Genomics, Department of Genetics, Washington University School of Medicine, St. Louis, MO, USA.ORCID http://orcid.org/0000-0001-6102-774X
Patricia A PeyserDepartment of Epidemiology, School of Public Health, University of Michigan, Ann Arbor, MI, USA.
Nicholette D PalmerDepartment of Biochemistry, Wake Forest University School of Medicine, Winston-Salem, NC, USA.ORCID http://orcid.org/0000-0001-8883-2511
Elizabeth K SpeliotesDepartment of Internal Medicine, Division of Gastroenterology and Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI, USA. espeliot@med.umich.edu.ORCID http://orcid.org/0000-0002-1002-4140
University of Michigan · USJackson Memorial Hospital · USUCLA Medical Center · USColorado School of Public Health · USWake Forest University · USUniversity of Maryland, Baltimore · USVanderbilt University · USBrigham and Women's Hospital · USIcelandic Heart Association · ISUniversity of California San Diego · USUniversity of Iceland · IS
Funding
UCLA Clinical Translational Science InstituteUL1TR001881 · NCATS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI ARLEEN F. BROWN, ARASH NAEIM · 2016 to 2026
$118.1MInstitute for Clinical and Translational ResearchUL1TR001079 · NCATS · JOHNS HOPKINS UNIVERSITY · PI FORD, DANIEL ERNEST · 2013 to 2017
$60.1MGenetic Epidemiology of COPDU01HL089897 · NHLBI · NATIONAL JEWISH HEALTH · PI CRAPO, JAMES D · 2007 to 2021
$56.9MTransgenic & Knock-out MouseP30DK063491 · NIDDK · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI MILES Frome WILKINSON · 2003 to 2026
$40.4MWake Forest Clinical and Translational Science AwardUL1TR001420 · NCATS · WAKE FOREST UNIVERSITY HEALTH SCIENCES · PI ARD, JAMY D, FOLEY, KRISTIE L · 2015 to 2023
$32.3MFRAMINGHAM HEART STUDY - YEAR 5 EXAM75N92019D00031 · NHLBI · BOSTON UNIVERSITY MEDICAL CAMPUS · 2019 to 2024
$29.8MClinical and Translational Science AwardUL1TR000040 · NCATS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI GINSBERG, HENRY N · 2012 to 2015
$26.2MGenetic Epidemiology of COPDU01HL089856 · NHLBI · BRIGHAM AND WOMEN'S HOSPITAL · PI SILVERMAN, EDWIN K · 2007 to 2021
$20.7MTHE PURPOSE OF MODIFICATION TO(1)INCREASE EFFORT OF OPTION 2 AND OPTION 3 FOR ICN01AG12100 · NIA · ICELANDIC HEART ASSOCIATION · PI GUDNASON, VILMUNDUR · 2007 to 2012
$18.4MResearch BaseP30DK072488 · NIDDK · UNIVERSITY OF MARYLAND BALTIMORE · PI MITCHELL, BRAXTON D · 2005 to 2019
$17.3MTask Area A Core Study Operations.Task Area A shall encompass annual follow-up of cohort members, clinical endpoints ascertainment, study coordination activities, maintenance of the database and biosp75N92020D00001 · NHLBI · UNIVERSITY OF WASHINGTON · PI MCCLELLAND, ROBYN LEAGH · 2020 to 2025
$17.2MGenome-wide Search for CVD Gene-Environment InteractionsU01HL072515 · NHLBI · UNIVERSITY OF MARYLAND BALTIMORE · PI SHULDINER, ALAN R. · 2002 to 2008
$11.2MNCATS NIH HHS UL1 TR000040NCATS NIH HHS UL1 TR001079NCATS NIH HHS UL1 TR001420NCATS NIH HHS UL1 TR001881NHLBI NIH HHS 75N92019D00031NHLBI NIH HHS 75N92020D00001NHLBI NIH HHS 75N92020D00002NHLBI NIH HHS 75N92020D00003NHLBI NIH HHS 75N92020D00004NHLBI NIH HHS 75N92020D00005NHLBI NIH HHS 75N92020D00006NHLBI NIH HHS 75N92020D00007NHLBI NIH HHS HHSN268201500001CNHLBI NIH HHS HHSN268201500001INHLBI NIH HHS HHSN268201500003CNHLBI NIH HHS HHSN268201500003INHLBI NIH HHS HHSN268201800010INHLBI NIH HHS HHSN268201800011CNHLBI NIH HHS HHSN268201800011INHLBI NIH HHS HHSN268201800012CNHLBI NIH HHS HHSN268201800012INHLBI NIH HHS HHSN268201800014CNHLBI NIH HHS HHSN268201800014INHLBI NIH HHS HHSN268201800015INHLBI NIH HHS N01 HC025195NHLBI NIH HHS N01 HC095159NHLBI NIH HHS N01 HC095160NHLBI NIH HHS N01 HC095161NHLBI NIH HHS N01 HC095162NHLBI NIH HHS N01 HC095163NHLBI NIH HHS N01 HC095164NHLBI NIH HHS N01 HC095165NHLBI NIH HHS N01 HC095166NHLBI NIH HHS N01 HC095167NHLBI NIH HHS N01 HC095168NHLBI NIH HHS N01 HC095169NHLBI NIH HHS N02 HL064278NHLBI NIH HHS R01 HL060894NHLBI NIH HHS R01 HL060919NHLBI NIH HHS R01 HL060944NHLBI NIH HHS R01 HL061019NHLBI NIH HHS R01 HL061210NHLBI NIH HHS R01 HL071739NHLBI NIH HHS R01 HL085571NHLBI NIH HHS R01 HL087660NHLBI NIH HHS R01 HL087700NHLBI NIH HHS R01 HL105756NHLBI NIH HHS R01 HL117078NHLBI NIH HHS R01 HL122464NHLBI NIH HHS RC1 HL100245NHLBI NIH HHS U01 HL072515NHLBI NIH HHS U01 HL084756NHLBI NIH HHS U01 HL089856NHLBI NIH HHS U01 HL089897NHLBI NIH HHS U01 HL137181NIA NIH HHS N01AG12100NIDA NIH HHS HHSN271201200022CNIDDK NIH HHS P30 DK063491NIDDK NIH HHS P30 DK072488NIDDK NIH HHS R01 DK085175NIDDK NIH HHS R01 DK089256NIDDK NIH HHS R01 DK106621NIDDK NIH HHS R01 DK107904NIDDK NIH HHS R01 DK118062NIDDK NIH HHS R01 DK128871NIDDK NIH HHS R01 DK131787NIMHD NIH HHS HHSN268201800013I
Abstract
Nonalcoholic fatty liver disease (NAFLD) is common and partially heritable and has no effective treatments. We carried out a genome-wide association study (GWAS) meta-analysis of imaging (n = 66,814) and diagnostic code (3,584 cases versus 621,081 controls) measured NAFLD across diverse ancestries. We identified NAFLD-associated variants at torsin family 1 member B (TOR1B), fat mass and obesity associated (FTO), cordon-bleu WH2 repeat protein like 1 (COBLL1)/growth factor receptor-bound protein 14 (GRB14), insulin receptor (INSR), sterol regulatory element-binding transcription factor 1 (SREBF1) and patatin-like phospholipase domain-containing protein 2 (PNPLA2), as well as validated NAFLD-associated variants at patatin-like phospholipase domain-containing protein 3 (PNPLA3), transmembrane 6 superfamily 2 (TM6SF2), apolipoprotein E (APOE), glucokinase regulator (GCKR), tribbles homolog 1 (TRIB1), glycerol-3-phosphate acyltransferase (GPAM), mitochondrial amidoxime-reducing component 1 (MARC1), microsomal triglyceride transfer protein large subunit (MTTP), alcohol dehydrogenase 1B (ADH1B), transmembrane channel like 4 (TMC4)/membrane-bound O-acyltransferase domain containing 7 (MBOAT7) and receptor-type tyrosine-protein phosphatase δ (PTPRD). Implicated genes highlight mitochondrial, cholesterol and de novo lipogenesis as causally contributing to NAFLD predisposition. Phenome-wide association study (PheWAS) analyses suggest at least seven subtypes of NAFLD. Individuals in the top 10% and 1% of genetic risk have a 2.5-fold to 6-fold increased risk of NAFLD, cirrhosis and hepatocellular carcinoma. These genetic variants identify subtypes of NAFLD, improve estimates of disease risk and can guide the development of targeted therapeutics.
Indexed as
Non-alcoholic Fatty Liver DiseaseAcyltransferasesAlpha-Ketoglutarate-Dependent Dioxygenase FTOGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansIntracellular Signaling Peptides and ProteinsLiverLiver CirrhosisPhospholipasesPolymorphism, Single NucleotideProtein Serine-Threonine KinasesAcyltransferasesAlpha-Ketoglutarate-Dependent Dioxygenase FTOFTO protein, humanIntracellular Signaling Peptides and ProteinsPhospholipasesProtein Serine-Threonine KinasesTRIB1 protein, human
Identifiers
What OpenQuestion holds
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Read underepoch 390
Registered trials
NCT07748130ClinicalTrials.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.