ArticleNature medicine2024
Partitioned polygenic risk scores identify distinct types of metabolic dysfunction-associated steatotic liver disease.
Article in Nature medicine, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 84 papers, 1 of them a synthesis that pooled it.
What it found
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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.
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Who cites it
84 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Conserved hepatic RNA signatures across multiple cohorts reveal novel mechanistic clues for advanced fibrosis in human MASLD.Hepatology communications · 2026Pooled it
- Metabolomic signatures of hepatic steatosis reveal heterogeneity in cardiometabolic risk and responses to lifestyle interventions in type 2 diabetes: a post hoc analysis.Cardiovascular diabetology · 2026Trial
- Genetics of MASLD: a diabetes perspective.Diabetologia · 2026Review
- Non-pharmacological treatment of MASLD.Diabetologia · 2026Review
- Pharmacological treatment of MASH.Diabetologia · 2026Review
- From Single Agents to Synergy: Redefining Therapeutic Strategies in MASLD.International journal of molecular sciences · 2026Review
- Shared genetic basis of sarcopenia and osteoporosis: insights from GWAS and multi-omics analyses.Journal of bone and mineral metabolism · 2026Article
- AMPK-Directed Therapeutics for MASLD: Mechanistic Rationale, Activator Classes, and Clinical Translation.International journal of molecular sciences · 2026Review
- Polygenic risk scores in human genetics for study design discovery and translation.Human genetics · 2026Review
- Cardiovascular-Kidney-Metabolic Syndrome and Its Hepatic Dimension: A Narrative Review.Medicina (Kaunas, Lithuania) · 2026Review
- Heart-liver co-management in MASLD: expert perspectives and recommendations from a multidisciplinary cardiometabolic framework.Nature reviews. Gastroenterology & hepatology · 2026Review
- Subtyping metabolic dysfunction-associated steatotic liver disease using electronic health record-linked genomic cohorts reveals diverse etiologies and progression.Nature communications · 2026Article
- Autophagy in MASLD: A Metabolic and Precision Medicine Perspective.Liver international : official journal of the International Association for the Study of the Liver · 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
- Review
- Molecular mechanisms and pathogenesis of MASH.Nature · 2026Review
- Therapeutic landscape evolution for steatotic liver disease: from lifestyle interventions to precision pharmacotherapy.Clinical and molecular hepatology · 2026Review
- Genetic and genomic insights across the steatotic liver disease spectrum.Clinical and molecular hepatology · 2026Review
- MAFLD/MASLD: Past, Present, and Future.Journal of gastroenterology and hepatology · 2026Review
- Interplay between PNPLA3 genotype, liver steatosis, and cardiac remodeling in young adults: A magnetic resonance imaging study.Physiological reports · 2026Article
24 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issued
- Update of
Authors and funding
16 authors.
Funding
Abstract
Metabolic dysfunction-associated steatotic liver disease (MASLD) is characterized by an excess of lipids, mainly triglycerides, in the liver and components of the metabolic syndrome, which can lead to cirrhosis and liver cancer. While there is solid epidemiological evidence that MASLD clusters with cardiometabolic disease, several leading genetic risk factors for MASLD do not increase the risk of cardiovascular disease, suggesting no causal relationship between MASLD and cardiometabolic derangement. In this work, we leveraged measurements of visceral adiposity identifying 27 previously unknown genetic loci associated with MASLD (n = 36,394), six replicated in four independent cohorts (n = 3,903). Next, we generated two partitioned polygenic risk scores based on the presence of lipoprotein retention in the liver. The two polygenic risk scores suggest the presence of at least two distinct types of MASLD, one confined to the liver resulting in a more aggressive liver disease and one that is systemic and results in a higher risk of cardiometabolic disease. These findings shed light on the heterogeneity of MASLD and have the potential to improve the prediction of clinical trajectories and inform precision medicine approaches.
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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 OpenQuestion graph.