ArticleLipids in health and disease2020
Identification of a novel LPL nonsense variant and further insights into the complex etiology and expression of hypertriglyceridemia-induced acute pancreatitis.
Article in Lipids in health and disease, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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12 citing papers in PubMed, 26 citations in OpenAlex.
- Immune-Enhancing Treatment among Acute Necrotizing Pancreatitis Patients with Metabolic Abnormalities: AGut and liver · 2024Trial
- Immune enhancement in patients with predicted severe acute necrotising pancreatitis: a multicentre double-blind randomised controlled trial.Intensive care medicine · 2022Trial
- Genome-wide investigations of the lipid accumulation product index pinpoints polygenic determinants underlying pancreatitis susceptibility.Mammalian genome : official journal of the International Mammalian Genome Society · 2026Article
- Triglyceride-lowering therapies in hypertriglyceridemia-associated acute pancreatitis in China: a multicentre prospective cohort study.BMC medicine · 2024Article
- Triglycerides: A Sensitizer but Not a Trigger for Hypertriglyceridemic Acute Pancreatitis.Digestive diseases and sciences · 2024Article
- Impact of therapeutic plasmapheresis on the duration of organ failure in patients with hypertriglyceridemia-associated acute pancreatitis.Annals of intensive care · 2024Article
- Significant but partial lipoprotein lipase functional loss caused by a novel occurrence of rare LPL biallelic variants.Lipids in health and disease · 2024Article
- Association of lipoprotein lipaseArchives of endocrinology and metabolism · 2024Article
- Frameshift coding sequence variants in the LPL gene: identification of two novel events and exploration of the genotype-phenotype relationship for variants reported to date.Lipids in health and disease · 2023Article
- The East Asian-specific LPL p.Ala288Thr (c.862G > A) missense variant exerts a mild effect on protein function.Lipids in health and disease · 2023Article
- Prediction of infected pancreatic necrosis in acute necrotizing pancreatitis by the modified pancreatitis activity scoring system.United European gastroenterology journal · 2023Article
- Digenic Inheritance and Gene-Environment Interaction in a Patient With Hypertriglyceridemia and Acute Pancreatitis.Frontiers in genetics · 2021Article
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Authors and funding
14 authors at 4 institutions in 2 countries.
Funding
Abstract
backgroundHypertriglyceridemia (HTG) is a leading cause of acute pancreatitis. HTG can be caused by either primary (genetic) or secondary etiological factors, and there is increasing appreciation of the interplay between the two kinds of factors in causing severe HTG.
objectivesThe main aim of this study was to identify the genetic basis of hypertriglyceridemia-induced acute pancreatitis (HTG-AP) in a Chinese family with three affected members (the proband, his mother and older sister).
methodsThe entire coding and flanking sequences of LPL, APOC2, APOA5, GPIHBP1 and LMF1 genes were analyzed by Sanger sequencing. The newly identified LPL nonsense variant was subjected to functional analysis by means of transfection into HEK-293 T cells followed by Western blot and activity assays. Previously reported pathogenic LPL nonsense variants were collated and compared with respect to genotype and phenotype relationship.
resultsWe identified a novel nonsense variant, p.Gln118* (c.351C > T), in the LPL gene, which co-segregated with HTG-AP in the Chinese family. We provided in vitro evidence that this variant resulted in a complete functional loss of the affected LPL allele. We highlighted a role of alcohol abuse in modifying the clinical expression of the disease in the proband. Additionally, our survey of 12 previously reported pathogenic LPL nonsense variants (in 20 carriers) revealed that neither serum triglyceride levels nor occurrence of HTG-AP was distinguishable among the three carrier groups, namely, simple homozygotes, compound heterozygotes and simple heterozygotes.
conclusionsOur findings, taken together, generated new insights into the complex etiology and expression of HTG-AP.
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