ReviewThe Journal of clinical investigation2025
Human genetics of metabolic dysfunction-associated steatotic liver disease: from variants to cause to precision treatment.
Review in The Journal of clinical investigation, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 1 of them a synthesis that pooled it.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
21 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Meta-Analysis: Effects of Steatotic Liver Disease-Associated Genetic Risk Alleles on Longitudinal Outcomes.Alimentary pharmacology & therapeutics · 2025Pooled it
- MASLD and Cardiovascular Risk: Mechanisms and Implications for Clinical Practice.Current hypertension reports · 2026Review
- Steatotic liver disease in Latin America: current views and perspectives.Nature reviews. Gastroenterology & hepatology · 2026Review
- Genetics of MASLD: a diabetes perspective.Diabetologia · 2026Review
- Hepatic Lipoprotein Production, Cardiometabolic Phenotypes, and Subtypes of Steatotic Liver Disease.Circulation research · 2026Review
- LYPLAL1 rare loss-of-function variants in humans and deletion in human hepatoma cells protect against MASLD.Journal of lipid research · 2026Article
- Current status survey and risk factor analysis of metabolic dysfunction-associated steatotic liver disease among adolescents in Hainan Province.Scientific reports · 2026Article
- Article
- Letter to the Editor: "Critical appraisal of MASLD subtypes and pregnancy outcome associations in a nationwide cohort".Hepatology international · 2026Article
- Liver fat content is not elevated in people with type 1 diabetes: the Maastricht Study.Diabetologia · 2026Article
- Cardiovascular Implications in Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD): A State-of-the-Art Review.Korean circulation journal · 2026Review
- Genetic Information Enhances a Novel Non-Invasive Steatosis Index and Outperforms Existing Steatosis Indices.Liver international : official journal of the International Association for the Study of the Liver · 2026Article
- Metabolic dysfunction associated steatotic liver disease: mechanisms, diagnosis, and management in adults.BMJ medicine · 2026Review
- Early-Life Nutritional Determinants of Pediatric MASLD.Nutrients · 2025Review
- Review
- Primary Human Tissue Models for Metabolic Dysfunction-Associated Liver Disease - toward Streamlining Drug Discovery with Patient-Derived Assays.Advanced biology · 2025Review
- Efficacy and safety of anti-obesity drugs in metabolic dysfunction-associated steatotic liver disease: An updated review.World journal of gastroenterology · 2025Review
- Call a spade a spade.Hepatobiliary surgery and nutrition · 2025Article
- Ultra-Processed Foods and Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD): What Is the Evidence So Far?Nutrients · 2025Review
- Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors.
Funding
Abstract
Metabolic dysfunction-associated steatotic liver disease (MASLD) is characterized by increased hepatic steatosis with cardiometabolic disease and is a leading cause of advanced liver disease. We review here the genetic basis of MASLD. The genetic variants most consistently associated with hepatic steatosis implicate genes involved in lipoprotein input or output, glucose metabolism, adiposity/fat distribution, insulin resistance, or mitochondrial/ER biology. The distinct mechanisms by which these variants promote hepatic steatosis result in distinct effects on cardiometabolic disease that may be best suited to precision medicine. Recent work on gene-environment interactions has shown that genetic risk is not fixed and may be exacerbated or attenuated by modifiable (diet, exercise, alcohol intake) and nonmodifiable environmental risk factors. Some steatosis-associated variants, notably those in patatin-like phospholipase domain-containing 3 (PNPLA3) and transmembrane 6 superfamily member 2 (TM6SF2), are associated with risk of developing adverse liver-related outcomes and provide information beyond clinical risk stratification tools, especially in individuals at intermediate to high risk for disease. Future work to better characterize disease heterogeneity by combining genetics with clinical risk factors to holistically predict risk and develop therapies based on genetic risk is required.
Indexed as
Identifiers
What Socratic holds
Registered trials
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.