ArticleBMC medicine2019
GWAS and enrichment analyses of non-alcoholic fatty liver disease identify new trait-associated genes and pathways across eMERGE Network.
Article in BMC medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 100 papers, 7 of them syntheses that pooled it.
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Who cites it
100 citing papers in PubMed, 7 syntheses or guidelines pooled it, 201 citations in OpenAlex.
- Causal relationships between neuropsychiatric disorders and nonalcoholic fatty liver disease: A bidirectional Mendelian randomization study.BMC gastroenterology · 2024Pooled it
- Comprehensive meta-analysis reveals distinct gene expression signatures of MASLD progression.Life science alliance · 2024Pooled it
- A common variant that alters SUN1 degradation associates with hepatic steatosis and metabolic traits in multiple cohorts.Journal of hepatology · 2023Pooled it
- Genome-wide association meta-analysis identifies 17 loci associated with nonalcoholic fatty liver disease.Nature genetics · 2023Pooled it
- Mendelian Randomization Analysis Reveals No Causal Relationship Between Nonalcoholic Fatty Liver Disease and Severe COVID-19.Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association · 2022Pooled it
- Genome-Wide Association Study of NAFLD Using Electronic Health Records.Hepatology communications · 2022Pooled it
- Electronic health record-based genome-wide meta-analysis provides insights on the genetic architecture of non-alcoholic fatty liver disease.Cell reports. Medicine · 2021Pooled it
- Nutrigenetic Interactions Might Modulate the Antioxidant and Anti-Inflammatory Status in Mastiha-Supplemented Patients With NAFLD.Frontiers in immunology · 2021Trial
- Genetics of MASLD: a diabetes perspective.Diabetologia · 2026Review
- Genetic and genomic insights across the steatotic liver disease spectrum.Clinical and molecular hepatology · 2026Review
- Genome-wide association and polygenic risk score analyses of MASLD-related hepatic steatosis severity in a Taiwanese Han population.Cell & bioscience · 2026Article
- Integrative analyses elucidate transcriptional regulatory functions of risk alleles for metabolic liver disease.Nature genetics · 2026Article
- Echinatin attenuates LPS-induced mastitis by suppressing IL-17RA and MAPK/NF-κB signaling.BMC veterinary research · 2026Article
- Predicting metabolic dysfunction-associated steatotic liver disease risk using patient-derived induced pluripotent stem cells.Stem cells translational medicine · 2026Article
- Hepatic Steatosis and Stiffness in Adolescent Obesity Are Linked to Androgenemia, Insulin Sensitivity, and Inflammation.Hormone research in paediatrics · 2026Article
- Beyond Discrete Diagnoses: Conceptualizing Obesity-associated Metabolic Disorders as a Unified, Dynamic Continuum.Current obesity reports · 2025Review
- Integrative functional genomics reveals transcriptional regulatory function of risk alleles for metabolic liver disease.Research square · 2025Article
- Effects of Diet and Exercise on Mitochondrial Health in Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD): Role of Ceramides.Nutrients · 2025Review
- Development and Validation of Machine Learning-Based Marker for Early Detection and Prognosis Stratification of Nonalcoholic Fatty Liver Disease.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
- Genetic variants influencing liver fat in normal-weight individuals of European ancestry.JHEP reports : innovation in hepatology · 2025Article
40 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
31 authors at 14 institutions in 1 country.
Funding
Abstract
backgroundNon-alcoholic fatty liver disease (NAFLD) is a common chronic liver illness with a genetically heterogeneous background that can be accompanied by considerable morbidity and attendant health care costs. The pathogenesis and progression of NAFLD is complex with many unanswered questions. We conducted genome-wide association studies (GWASs) using both adult and pediatric participants from the Electronic Medical Records and Genomics (eMERGE) Network to identify novel genetic contributors to this condition.
methodsFirst, a natural language processing (NLP) algorithm was developed, tested, and deployed at each site to identify 1106 NAFLD cases and 8571 controls and histological data from liver tissue in 235 available participants. These include 1242 pediatric participants (396 cases, 846 controls). The algorithm included billing codes, text queries, laboratory values, and medication records. Next, GWASs were performed on NAFLD cases and controls and case-only analyses using histologic scores and liver function tests adjusting for age, sex, site, ancestry, PC, and body mass index (BMI).
resultsConsistent with previous results, a robust association was detected for the PNPLA3 gene cluster in participants with European ancestry. At the PNPLA3-SAMM50 region, three SNPs, rs738409, rs738408, and rs3747207, showed strongest association (best SNP rs738409 p = 1.70 × 10
conclusionsIn summary, this study demonstrates clear confirmation of a previously described NAFLD risk locus and several novel associations. Further collaborative studies including an ethnically diverse population with well-characterized liver histologic features of NAFLD are needed to further validate the novel findings.
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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 OpenQuestion graph.