ReviewAlimentary pharmacology & therapeutics2020
Review article: the emerging role of genetics in precision medicine for patients with non-alcoholic steatohepatitis.
Review in Alimentary pharmacology & therapeutics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 89 papers, 3 of them syntheses that pooled it.
What it found
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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.
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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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
89 citing papers in PubMed, 3 syntheses or guidelines pooled it, 164 citations in OpenAlex.
- Clinical Practice Guidelines for Adult MASLD in Bosnia and Herzegovina: National Recommendations for Diagnosis, Risk Stratification, and Treatment.Acta medica academica · 2026Guideline
- Global prevalence of advanced fibrosis in patients with type 2 diabetes mellitus: a systematic review and meta-analysis.Journal of gastroenterology and hepatology · 2024Pooled it
- A common variant that alters SUN1 degradation associates with hepatic steatosis and metabolic traits in multiple cohorts.Journal of hepatology · 2023Pooled it
- HFpEF and MASLD: converging mechanisms and clinical implications.Nature reviews. Cardiology · 2026Review
- Genome-wide association and polygenic risk score analyses of MASLD-related hepatic steatosis severity in a Taiwanese Han population.Cell & bioscience · 2026Article
- Management of MASLD/MASH: challenges, innovations, and the future of patient-centered care in Japan.Journal of gastroenterology · 2026Review
- CIDEB and CGI-58 differentially regulate liver lipid-droplet cholesterol to modulate metabolic dysfunction-associated steatohepatitis severity.Cell reports · 2026Article
- Metabolic dysfunction-associated steatotic liver disease and type 2 diabetes: Pathophysiology, diagnosis, and emerging therapeutic strategies.World journal of diabetes · 2026Review
- Current Research Progress on ABHD5 in Cancers.Cancers · 2026Review
- Article
- Noninvasive strategies for metabolic dysfunction-associated steatotic liver disease assessment and referral in Japan.World journal of gastroenterology · 2026Review
- Genetic predeterminants and recent advancements in steatotic liver disease: A roadmap toward precision hepatology.World journal of hepatology · 2025Review
- Resmetirom: The First FDA-Approved Drug for Metabolic Dysfunction-Associated Steatohepatitis (MASH) with a Perspective on Precision Medicine.Clinical drug investigation · 2025Review
- Diet and Lifestyle Interventions in Metabolic Dysfunction-Associated Fatty Liver Disease: A Comprehensive Review.International journal of molecular sciences · 2025Review
- Bile acids in metabolic dysfunction-associated steatotic liver disease.World journal of hepatology · 2025Review
- Genetic Variants, Metabolic Dysfunction-Associated Fatty Liver Disease, and Major Health Outcomes in Older Adults.Biomedicines · 2025Article
- PNPLA3 I148M variant links to adverse metabolic traits in MASLD during fasting and feeding.JHEP reports : innovation in hepatology · 2025Article
- Polychlorinated Biphenyl Exposure Alters tRNA Transcriptome in High-Fat Diet-Fed Mouse Liver.Non-coding RNA · 2025Article
- Liver lipid droplet cholesterol content is a key determinant of metabolic dysfunction-associated steatohepatitis.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Design and rationale for a global novel non-invasive screening observational study using genetics and non-invasive methodologies to identify at-risk MASLD participants: The ALIGN study.Contemporary clinical trials communications · 2025Article
29 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
7 authors at 4 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundNon-alcoholic steatohepatitis (NASH) is a severe form of non-alcoholic fatty liver disease (NAFLD) characterised by liver fat accumulation, inflammation and progressive fibrosis. Emerging data indicate that genetic susceptibility increases risks of NAFLD, NASH and NASH-related cirrhosis.
aimsTo review NASH genetics and discuss the potential for precision medicine approaches to treatment.
methodPubMed search and inclusion of relevant literature.
resultsSingle-nucleotide polymorphisms in PNPLA3, TM6SF2, GCKR, MBOAT7 and HSD17B13 are clearly associated with NASH development or progression. These genetic variants are common and have moderate-to-large effect sizes for development of NAFLD, NASH and hepatocellular carcinoma (HCC). The genes play roles in lipid remodelling in lipid droplets, hepatic very low-density lipoprotein (VLDL) secretion and de novo lipogenesis. The PNPLA3 I148M variant (rs738409) has large effects, with approximately twofold increased odds of NAFLD and threefold increased odds of NASH and HCC per allele. Obesity interacts with PNPLA3 I148M to elevate liver fat content and increase rates of NASH. Although the isoleucine-to-methionine substitution at amino acid position 148 of the PNPLA3 enzyme inactivates its lipid remodelling activity, the effect of PNPLA3 I148M results from trans-repression of another lipase (ATGL/PNPLA2) by sequestration of a shared cofactor (CGI-58/ABHD5), leading to decreased hepatic lipolysis and VLDL secretion. In homozygous Pnpla3 I148M knock-in rodent models of NAFLD, targeted PNPLA3 mRNA knockdown reduces hepatic steatosis, inflammation and fibrosis.
conclusionThe emerging genetic and molecular understanding of NASH paves the way for novel interventions, including precision medicines that can modulate the activity of specific genes associated with NASH.
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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 Socratic graph.