ArticleEBioMedicine2018
Intensive genetic analysis for Chinese patients with very high triglyceride levels: Relations of mutations to triglyceride levels and acute pancreatitis.
Article in EBioMedicine, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 32 citations in OpenAlex.
- The Correlation Analysis of C-Reactive Protein-Triglyceride-Glucose Index with the Severity of Hyperlipidemic Acute Pancreatitis.Digestive diseases and sciences · 2026Article
- Distinct genetic architecture of coronary heart disease in dyslipidemia patients.BMC medical genomics · 2026Article
- Molecular characterization of a rare heterozygousFrontiers in genetics · 2026Article
- Hypertriglyceridemic pancreatitis: perspectives from China.Current opinion in gastroenterology · 2025Review
- Pathogenic variation in insulin resistance genes is common in polycystic ovary syndrome (PCOS): a strategy for causal gene discovery using whole-exome sequencing (WES) in complex traits.medRxiv : the preprint server for health sciences · 2025Article
- Identification of a Compound Heterozygous LMF1 Variants in a Patient with Severe Hypertriglyceridemia - Case Report and Literature Review.Journal of atherosclerosis and thrombosis · 2024Review
- Ferroptosis exacerbates hyperlipidemic acute pancreatitis by enhancing lipid peroxidation and modulating the immune microenvironment.Cell death discovery · 2024Review
- 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
- Single coronary artery presenting dilated cardiomyopathy and hyperlipidemia with theFrontiers in cardiovascular medicine · 2023Review
- Biochemical, Clinical, and Genetic Characteristics of Mexican Patients with Primary Hypertriglyceridemia, Including the First Case of Hyperchylomicronemia Syndrome Due to GPIHBP1 Deficiency.International journal of molecular sciences · 2022Article
- Pleiotropic Effects of Common and RareGenes · 2022Article
- Rapid reduction in triglyceride levels by therapeutic plasma exchange in patients with hypertriglyceridemic pancreatitis.Journal of clinical apheresis · 2022Article
- Case Report: Next-Generation Sequencing Identified a Novel Pair of Compound-Heterozygous Mutations ofFrontiers in genetics · 2022Article
- The Evolving Story of Multifactorial Chylomicronemia Syndrome.Frontiers in cardiovascular medicine · 2022Review
- Clinical characteristics of acute pancreatitis in children: a single-center experience in Western China.BMC gastroenterology · 2021Article
- Variants of Lipid-Related Genes in Adult Japanese Patients with Severe Hypertriglyceridemia.Journal of atherosclerosis and thrombosis · 2020Article
- Genetic and functional studies of theMolecular genetics and metabolism reports · 2020Article
- Large triglyceride-rich lipoproteins in hypertriglyceridemia are associated with the severity of acute pancreatitis in experimental mice.Cell death & disease · 2019Article
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Authors and funding
12 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundSevere hypertriglyceridemia (SHTG, TG ≥5·65 mmol/L), a disease, usually resulting from a combination of genetic and environmental factors, may increase the risk of acute pancreatitis (AP). However, previous genetic analysis has been limited by lacking of related observation of gene to AP.
methodsThe expanding genetic sequencing including 15 TG-related genes (LPL, LMF1, APOC2, GPIHBP1, GCKR, ANGPTL3, APOB, APOA1-A4-C3-A5, TRIB1, CETP, APOE, and LIPI) was performed within 103 patients who were diagnosed with primary SHTG and 46 age- and sex-matched normal controls.
findingsRare variants were found in 46 patients and 12 controls. The detection rate of rare variants in SHTG group increased by 19·5% via intensive genetic analysis. Presence of rare variants in LPL, APOA5, five LPL molecular regulating genes and all the sequenced genes were found to be associated with SHTG (p < 0·05). Of noted, patients with history of AP presented higher frequency of rare variants in LPL gene and all the LPL molecular regulating genes (27·8% vs.4·7% and 50·0% vs. 20·0%). The risk scores for SHTG determined by common TG-associated variants were increased in subgroups according to the extent of SHTG when they were compared with that of controls. Finally, patients without rare variants within SHTG group also presented higher risk scores than control group (p < 0·05).
interpretationExpanding genetic analysis had a higher detection rate of rare variants in patients with SHTG. Rare variants in LPL and its molecular regulating genes could increase the risk of AP among Chinese patients with SHTG. FUND: This work was partially supported by the Capital Health Development Fund (201614035) and CAMS. Major Collaborative Innovation Project (2016-I2M-1-011) awarded to Dr. Jian-Jun Li, MD, PhD.
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