ArticleScientific reports2018
Evaluation of Polygenic Determinants of Non-Alcoholic Fatty Liver Disease (NAFLD) By a Candidate Genes Resequencing Strategy.
Article in Scientific reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 papers, 4 of them syntheses that pooled it.
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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.
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
46 citing papers in PubMed, 4 syntheses or guidelines pooled it, 80 citations in OpenAlex.
- Association between the PNPLA3 I148M (rs738409) polymorphism and risk of metabolic dysfunction-associated steatotic liver disease: a meta-analysis (2015-2025).BMC gastroenterology · 2026Pooled it
- TM6SF2 rs58542926 is related to hepatic steatosis, fibrosis and serum lipids both in adults and children: A meta-analysis.Frontiers in endocrinology · 2022Pooled it
- Association between PNPLA3 rs738409 polymorphism and nonalcoholic fatty liver disease: a systematic review and meta-analysis.BMC endocrine disorders · 2021Pooled it
- rs641738C>T near MBOAT7 is associated with liver fat, ALT and fibrosis in NAFLD: A meta-analysis.Journal of hepatology · 2021Pooled it
- Long-term hepatic safety of lomitapide in homozygous familial hypercholesterolaemia.Liver international : official journal of the International Association for the Study of the Liver · 2023Trial
- Trial
- Nonalcoholic Fatty Liver Disease (NAFLD), But not Its Susceptibility Gene Variants, Influences the Decrease of Kidney Function in Overweight/Obese Children.International journal of molecular sciences · 2019Trial
- Ultra-rapid progression of MAFLD to cirrhosis and post-transplant steatosis in a patient with a polygenic risk profile.MedScience · 2026Article
- LYPLAL1 rare loss-of-function variants in humans and deletion in human hepatoma cells protect against MASLD.Journal of lipid research · 2026Article
- Biomarkers for early identification of metabolic dysfunction-associated steatotic liver disease (MASLD): a narrative review.Archives of medical science : AMS · 2026Article
- Genetic predeterminants and recent advancements in steatotic liver disease: A roadmap toward precision hepatology.World journal of hepatology · 2025Review
- A Genome-Wide Association Study of Circulating Serum Choline, Betaine, Dimethylglycine, and Their Ratios.Nutrients · 2025Article
- Genetic Variants, Metabolic Dysfunction-Associated Fatty Liver Disease, and Major Health Outcomes in Older Adults.Biomedicines · 2025Article
- Genetic Risk, BMI Status, BMI Change Patterns, and the Risk of Steatotic Liver Disease and Liver Enzyme Elevation in Chinese Adults.Nutrients · 2024Article
- A Systematic Review of Metabolic Syndrome: Key Correlated Pathologies and Non-Invasive Diagnostic Approaches.Journal of clinical medicine · 2024Review
- The fatty acid omega hydroxylase genes (CYP4 family) in the progression of metabolic dysfunction-associated steatotic liver disease (MASLD): An RNA sequence database analysis and review.Biochemical pharmacology · 2024Review
- G-quadruplex forming regions in GCK and TM6SF2 are targets for differential DNA methylation in metabolic disease and hepatocellular carcinoma patients.Scientific reports · 2024Article
- Liver Fat Scores for Noninvasive Diagnosis and Monitoring of Nonalcoholic Fatty Liver Disease in Epidemiological and Clinical Studies.Journal of clinical and translational hepatology · 2023Review
- Genetic Predictors of Comorbid Course of COVID-19 and MAFLD: A Comprehensive Analysis.Viruses · 2023Review
- MBOAT7 rs641738 (C>T) is associated with NAFLD progression in men and decreased ASCVD risk in elder Chinese population.Frontiers in endocrinology · 2023Article
Corrections and comments
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Authors and funding
17 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
NAFLD is a polygenic condition but the individual and cumulative contribution of identified genes remains to be established. To get additional insight into the genetic architecture of NAFLD, GWAS-identified GCKR, PPP1R3B, NCAN, LYPLAL1 and TM6SF2 genes were resequenced by next generation sequencing in a cohort of 218 NAFLD subjects and 227 controls, where PNPLA3 rs738409 and MBOAT7 rs641738 genotypes were also obtained. A total of 168 sequence variants were detected and 47 were annotated as functional. When all functional variants within each gene were considered, only those in TM6SF2 accumulate in NAFLD subjects compared to controls (P = 0.04). Among individual variants, rs1260326 in GCKR and rs641738 in MBOAT7 (recessive), rs58542926 in TM6SF2 and rs738409 in PNPLA3 (dominant) emerged as associated to NAFLD, with PNPLA3 rs738409 being the strongest predictor (OR 3.12, 95% CI, 1.8-5.5, P < 0.001). A 4-SNPs weighted genetic risk score value >0.28 was associated with a 3-fold increased risk of NAFLD. Interestingly, rs61756425 in PPP1R3B and rs641738 in MBOAT7 genes were predictors of NAFLD severity. Overall, TM6SF2, GCKR, PNPLA3 and MBOAT7 were confirmed to be associated with NAFLD and a score based on these genes was highly predictive of this condition. In addition, PPP1R3B and MBOAT7 might influence NAFLD severity.
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