ArticleJournal of internal medicine2012
Mutations in LPL, APOC2, APOA5, GPIHBP1 and LMF1 in patients with severe hypertriglyceridaemia.
Article in Journal of internal medicine, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 108 papers.
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Who cites it
108 citing papers in PubMed, 242 citations in OpenAlex.
- Effect of the DGAT1 inhibitor pradigastat on triglyceride and apoB48 levels in patients with familial chylomicronemia syndrome.Lipids in health and disease · 2015Trial
- Multimerization of glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 (GPIHBP1) and familial chylomicronemia from a serine-to-cysteine substitution in GPIHBP1 Ly6 domain.The Journal of biological chemistry · 2014Trial
- Review
- Genetic predisposition of Asparaginase-induced hypertriglyceridemia in children with acute lymphoblastic leukemia: Two case reports and review of literature.World journal of clinical pediatrics · 2026Article
- Patient-derived organoids reveal ductal dysfunction and CFTR-modulator responses in chronic pancreatitis.Cell stem cell · 2026Article
- Association of APOC2 upstream variant rs10425530 with BMI predicted to overlap with NR2C2, GCM2 and NR2C1 binding sites.Human genomics · 2026Article
- Hypertriglyceridaemia-Associated Acute Pancreatitis: Pathophysiological Insights and Advances in Clinical Management.Biomedicines · 2026Review
- Genetic Determinants of Severe Hypertriglyceridemia: Rare Variants inInternational journal of molecular sciences · 2026Article
- Infantile extreme hypertriglyceridemia diagnosed as glycogen storage disease type Ia: A case report.Medicine · 2026Article
- Case Report: Conventional therapy versus volanesorsen in two sisters with familial chylomicronemia syndrome.Frontiers in nutrition · 2026Article
- Recombinant human IGF-1 alleviates dyslipidemia induced by lactational maternal dietary restriction.Frontiers in pediatrics · 2026Article
- Lipoprotein lipase requires a flexible lid and stable C-terminal, both maintained by ApoC-II peptide binding.bioRxiv : the preprint server for biology · 2025Article
- Chronic pancreatitis patient-derived organoids reveal new paths to precision therapeutics.bioRxiv : the preprint server for biology · 2025Article
- Olezarsen: A Next-Generation Antisense Therapy for Hypertriglyceridemia and Familial Chylomicronemia Syndrome.Cureus · 2025Review
- What is the phenotype of heterozygous lipoprotein lipase deficiency?Current opinion in lipidology · 2025Review
- Ultra-early indicators of acute hypertriglyceridemic pancreatitis may influence treatment decision-making.Scientific reports · 2025Article
- Mitoregulin, a tiny protein at the crossroads of mitochondrial functioning, stress, and disease.Frontiers in cell and developmental biology · 2025Review
- Rare variant genetic landscape of familial chylomicronemia syndrome (FCS) in the United Kingdom.Genetics in medicine open · 2025Article
- A sexually dimorphic hepatic cycle of periportal VLDL generation and subsequent pericentral VLDLR-mediated re-uptake.Nature communications · 2024Article
- Clinical characterization and mutation spectrum of patients with hypertriglyceridemia in a German outpatient clinic.Journal of lipid research · 2024Article
48 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
14 authors at 3 institutions in 3 countries.
Funding
Abstract
objectivesThe severe forms of hypertriglyceridaemia (HTG) are caused by mutations in genes that lead to the loss of function of lipoprotein lipase (LPL). In most patients with severe HTG (TG > 10 mmol L(-1) ), it is a challenge to define the underlying cause. We investigated the molecular basis of severe HTG in patients referred to the Lipid Clinic at the Academic Medical Center Amsterdam.
methodsThe coding regions of LPL, APOC2, APOA5 and two novel genes, lipase maturation factor 1 (LMF1) and GPI-anchored high-density lipoprotein (HDL)-binding protein 1 (GPIHBP1), were sequenced in 86 patients with type 1 and type 5 HTG and 327 controls.
resultsIn 46 patients (54%), rare DNA sequence variants were identified, comprising variants in LPL (n = 19), APOC2 (n = 1), APOA5 (n = 2), GPIHBP1 (n = 3) and LMF1 (n = 8). In 22 patients (26%), only common variants in LPL (p.Asp36Asn, p.Asn318Ser and p.Ser474Ter) and APOA5 (p.Ser19Trp) could be identified, whereas no mutations were found in 18 patients (21%). In vitro validation revealed that the mutations in LMF1 were not associated with compromised LPL function. Consistent with this, five of the eight LMF1 variants were also found in controls and therefore cannot account for the observed phenotype.
conclusionsThe prevalence of mutations in LPL was 34% and mostly restricted to patients with type 1 HTG. Mutations in GPIHBP1 (n = 3), APOC2 (n = 1) and APOA5 (n = 2) were rare but the associated clinical phenotype was severe. Routine sequencing of candidate genes in severe HTG has improved our understanding of the molecular basis of this phenotype associated with acute pancreatitis and may help to guide future individualized therapeutic strategies.
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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.