ArticleFASEB journal : official publication of the Federation of American Societies for Experimental Biology2005
Polymorphism of the PEMT gene and susceptibility to nonalcoholic fatty liver disease (NAFLD).
Article in FASEB journal : official publication of the Federation of American Societies for Experimental Biology, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT00677183 (Development of a Biomarker for Development of Non-Alcoholic Steatohepatitis), which is not on this map. Cited by 116 papers.
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.
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.
Development of a Biomarker for Development of Non-Alcoholic Steatohepatitis (NASH) in Children
Who cites it
116 citing papers in PubMed, 230 citations in OpenAlex.
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- Effectiveness of vitamin D therapy in improving metabolomic biomarkers in obesity phenotypes: Two randomized clinical trials.International journal of obesity (2005) · 2018Trial
- The role of the folate pathway in pancreatic cancer risk.PloS one · 2018Trial
- Choline intake in a large cohort of patients with nonalcoholic fatty liver disease.The American journal of clinical nutrition · 2012Trial
- Docosahexaenoic acid in plasma phosphatidylcholine may be a potential marker for in vivo phosphatidylethanolamine N-methyltransferase activity in humans.The American journal of clinical nutrition · 2011Trial
- Dietary choline requirements of women: effects of estrogen and genetic variation.The American journal of clinical nutrition · 2010Trial
- Choline intake and genetic polymorphisms influence choline metabolite concentrations in human breast milk and plasma.The American journal of clinical nutrition · 2010Trial
- Deletion of phosphatidylethanolamine methyltransferase promotes the spontaneous development of hepatic steatosis, inflammation, and fibrosis in young mice.Clinical science (London, England : 1979) · 2026Article
- Blood Focused-Metabolomics and Transcriptomics Uncover Non-Linear Risk Association of Inadequate Dietary Choline Intake-Linked Metabolic Stress with MASLD Through Amino Acid Biomarkers,International journal of molecular sciences · 2026Article
- Vitamin deficiencies and Alzheimer's disease: evidence and implications for supplementation.Frontiers in nutrition · 2026Review
- Gut microbiota and the gut-liver axis in MASLD: mechanisms, immune regulation and therapeutic opportunities.Frontiers in pharmacology · 2026Review
- Genetic variants influencing liver fat in normal-weight individuals of European ancestry.JHEP reports : innovation in hepatology · 2025Article
- The association of serum phospholipids levels with chronic liver diseases: A systematic review of observational studies.Health promotion perspectives · 2025Review
- Gut microbiota dysbiosis contributes to choline unavailability and NAFLD development.Journal of diabetes and metabolic disorders · 2025Article
- Choline in Pediatric Nutrition: Assessing Formula, Fortifiers and Supplements Across Age Groups and Clinical Indications.Nutrients · 2025Article
- Eggs, Dietary Choline, and Nonalcoholic Fatty Liver Disease in the Framingham Heart Study.The Journal of nutrition · 2025Article
- Article
- Metabolomic Hallmarks of Obesity and Metabolic Dysfunction-Associated Steatotic Liver Disease.International journal of molecular sciences · 2024Review
- Biochemistry and Diseases Related to the Interconversion of Phosphatidylcholine, Phosphatidylethanolamine, and Phosphatidylserine.International journal of molecular sciences · 2024Review
56 more citing papers are in PubMed but not listed here.
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
Abstract
Phosphatidylethanolamine N-methyltransferase (PEMT) catalyzes phosphatidylcholine synthesis. PEMT knockout mice have fatty livers, and it is possible that, in humans, nonalcoholic fatty liver disease (NAFLD) might be associated with PEMT gene polymorphisms. DNA samples from 59 humans without fatty liver and from 28 humans with NAFLD were genotyped for a single nucleotide polymorphism in exon 8 of PEMT, which leads to a V175M substitution. V175M is a loss of function mutation, as determined by transiently transfecting McArdle-RH7777 cells with constructs of wild-type PEMT open reading frame or the V175M mutant. Met/Met at residue 175 (loss of function SNP) occurred in 67.9% of the NAFLD subjects and in only 40.7% of control subjects (P<0.03). For the first time we report that a polymorphism of the human PEMT gene (V175M) is associated with diminished activity and may confer susceptibility to NAFLD.
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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.