ArticleJournal of clinical and experimental hepatology
Whole-Exome Sequencing Identifies a Variant in Phosphatidylethanolamine N-Methyltransferase Gene to be Associated With Lean-Nonalcoholic Fatty Liver Disease.
Article in Journal of clinical and experimental hepatology. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers, 1 of them a synthesis that pooled it.
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Who cites it
31 citing papers in PubMed, 1 synthesis or guideline pooled it, 42 citations in OpenAlex.
- Long-term outcomes in lean and non-lean NAFLD patients: a systematic review and meta-analysis.Endocrine · 2024Pooled it
- Deletion of phosphatidylethanolamine methyltransferase promotes the spontaneous development of hepatic steatosis, inflammation, and fibrosis in young mice.Clinical science (London, England : 1979) · 2026Article
- Fatty liver reexamined choline and mitochondrial toxin amelioration.World journal of biological chemistry · 2025Review
- Identification of druggable genetic targets for prostate cancer risk based on mendelian randomization and single-cell RNA sequencing.International urology and nephrology · 2025Article
- Beyond obesity: lean metabolic dysfunction-associated steatohepatitis from unveiling molecular pathogenesis to therapeutic advancement.Naunyn-Schmiedeberg's archives of pharmacology · 2025Review
- [Research progress on clinical characteristics and pathological mechanisms of lean metabolic-associated fatty liver disease].Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology · 2025Review
- Genetic variants influencing liver fat in normal-weight individuals of European ancestry.JHEP reports : innovation in hepatology · 2025Article
- Biochemistry and Diseases Related to the Interconversion of Phosphatidylcholine, Phosphatidylethanolamine, and Phosphatidylserine.International journal of molecular sciences · 2024Review
- Exploring the role of genetic variations in NAFLD: implications for disease pathogenesis and precision medicine approaches.European journal of medical research · 2024Review
- The Mediating Effect of the Choline-to-Betaine Ratio on the Association BetweenCurrent developments in nutrition · 2024Article
- MAFLD: an ideal framework for understanding disease phenotype in individuals of normal weight.Therapeutic advances in endocrinology and metabolism · 2024Review
- Loss of carnitine palmitoyltransferase 1a reduces docosahexaenoic acid-containing phospholipids and drives sexually dimorphic liver disease in mice.Molecular metabolism · 2023Article
- Epigenetic Regulation in Lean Nonalcoholic Fatty Liver Disease.International journal of molecular sciences · 2023Review
- Article
- The Role of Choline, Soy Isoflavones, and Probiotics as Adjuvant Treatments in the Prevention and Management of NAFLD in Postmenopausal Women.Nutrients · 2023Review
- Phosphatidylethanolamine N-methyltransferase: from Functions to Diseases.Aging and disease · 2023Review
- Nutritional Genomics in Nonalcoholic Fatty Liver Disease.Biomedicines · 2023Review
- Phosphatidylethanolamines Are Associated with Nonalcoholic Fatty Liver Disease (NAFLD) in Obese Adults and Induce Liver Cell Metabolic Perturbations and Hepatic Stellate Cell Activation.International journal of molecular sciences · 2023Article
- Lean nonalcoholic fatty liver disease and sarcopenia.Frontiers in endocrinology · 2023Review
- Clinical Classification of Obesity and Implications for Metabolic Dysfunction-Associated Fatty Liver Disease and Treatment.Diabetes, metabolic syndrome and obesity : targets and therapy · 2023Review
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
BACKGROUND AND
aimNonalcoholic fatty liver disease (NAFLD) is a spectrum of liver diseases with simple steatosis on one end and hepatocellular carcinoma on the other. Although obesity is a known risk factor for NAFLD, individuals with normal body mass index (BMI) also have hepatic fatty infiltration, now termed "lean-NAFLD". It represents a distinct entity with a strong underlying genetic component. The present study aimed to sequence the complete exonic regions of individuals with lean-NAFLD to identify germline causative variants associated with disrupted hepatic fatty acid metabolism, thereby conferring susceptibility to NAFLD.
methodsWhole blood was collected from patients with lean-NAFLD (n = 6; BMI < 23.0 kg/m
resultsAlthough WES identified ∼74,000 variants in individual samples, using various pipelines. variants in genes namely phosphatidylethanolamine N-methyltransferase (PEMT) and oxysterol-binding protein-related protein10 (OSBPL10) that have roles in dietary choline intake and regulation of cholesterol homeostasis, respectively, were identified (discovery set). Furthermore, significant differences were noted in BMI (p = 0.006), waist/hip circumference (p > 0.001), waist/hip ratio (p > 0.001), aspartate aminotransferase (p > 0.001), alanine aminotransferase (p > 0.001), and triglycerides (p = 0.002) between patients and controls. Validation of variants (rs7946-PEMT and rs2290532-OSBPL10) revealed that variant in PEMT but not OSBPL10 gene was associated (p = 0.04) with threefold increased risk of NAFLD in lean individuals.
conclusionOur results demonstrate the association of rs7946 with lean-NAFLD. WES may be an effective strategy to identify causative variants underlying lean-NAFLD.
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