ArticlePloS one2015
Genetic Variants Associated with Gestational Hypertriglyceridemia and Pancreatitis.
Article in PloS one, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 31 citations in OpenAlex.
- Case Report: Clinical and genetic analysis of a family with hereditary spherocytosis combined with familial chylomicronemia syndrome.Frontiers in genetics · 2026Article
- Genetic Insights on Hypertriglyceridaemia-Induced Acute Pancreatitis in Pregnancy: A Case Series and Literature Review.Case reports in endocrinology · 2026Article
- Severe Hypertriglyceridemia in Pregnancy: Clinical Approach and Management Strategies.JCEM case reports · 2025Article
- Loss-of-Function Homozygous Variant inKidney international reports · 2023Article
- Role of glycosylphosphatidylinositol-anchored high-density lipoprotein binding protein 1 in hypertriglyceridemia and diabetes.Journal of diabetes investigation · 2023Review
- Hypertriglyceridaemia in pregnancy: an unexpected diagnosis and its management.BMJ case reports · 2022Article
- Using Synthetic ApoC-II Peptides and nAngptl4 Fragments to Measure Lipoprotein Lipase Activity in Radiometric and Fluorescent Assays.Frontiers in cardiovascular medicine · 2022Article
- Current Diagnosis and Management of Primary Chylomicronemia.Journal of atherosclerosis and thrombosis · 2021Review
- Variants of Lipid-Related Genes in Adult Japanese Patients with Severe Hypertriglyceridemia.Journal of atherosclerosis and thrombosis · 2020Article
- Identification and functional characterization of a novel heterozygous missense variant in the LPL associated with recurrent hypertriglyceridemia-induced acute pancreatitis in pregnancy.Molecular genetics & genomic medicine · 2020Article
- Identification and functional characterization of mutations in LPL gene causing severe hypertriglyceridaemia and acute pancreatitis.Journal of cellular and molecular medicine · 2020Article
- Association of BUD13-ZNF259-APOA5-APOA1-SIK3 cluster polymorphism in 11q23.3 and structure of APOA5 with increased plasma triglyceride levels in a Korean population.Scientific reports · 2019Article
- Severe gestational hypertriglyceridemia: a rare but serious situation.The Pan African medical journal · 2019Article
- Hypertriglyceridemia-Related Pancreatitis In Patients With Type 2 Diabetes: Links And Risks.Diabetes, metabolic syndrome and obesity : targets and therapy · 2019Article
- Compound but non-linked heterozygous p.W14X and p.L279 V LPL gene mutations in a Chinese patient with long-term severe hypertriglyceridemia and recurrent acute pancreatitis.Lipids in health and disease · 2018Article
- Update on APOA5 Genetics: Toward a Better Understanding of Its Physiological Impact.Current atherosclerosis reports · 2017Review
- A promoter variant of the APOA5 gene increases atherogenic LDL levels and arterial stiffness in hypertriglyceridemic patients.PloS one · 2017Article
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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
Severe hypertriglyceridemia is a well-known cause of pancreatitis. Usually, there is a moderate increase in plasma triglyceride level during pregnancy. Additionally, certain pre-existing genetic traits may render a pregnant woman susceptible to development of severe hypertriglyceridemia and pancreatitis, especially in the third trimester. To elucidate the underlying mechanism of gestational hypertriglyceridemic pancreatitis, we undertook DNA mutation analysis of the lipoprotein lipase (LPL), apolipoprotein C2 (APOC2), apolipoprotein A5 (APOA5), lipase maturation factor 1 (LMF1), and glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 (GPIHBP1) genes in five unrelated pregnant Chinese women with severe hypertriglyceridemia and pancreatitis. DNA sequencing showed that three out of five patients had the same homozygous variation, p.G185C, in APOA5 gene. One patient had a compound heterozygous mutation, p.A98T and p.L279V, in LPL gene. Another patient had a compound heterozygous mutation, p.A98T & p.C14F in LPL and GPIHBP1 gene, respectively. No mutations were seen in APOC2 or LMF1 genes. All patients were diagnosed with partial LPL deficiency in non-pregnant state. As revealed in our study, genetic variants appear to play an important role in the development of severe gestational hypertriglyceridemia, and, p.G185C mutation in APOA5 gene appears to be the most common variant implicated in the Chinese population. Antenatal screening for mutations in susceptible women, combined with subsequent interventions may be invaluable in the prevention of potentially life threatening gestational hypertriglyceridemia-induced pancreatitis.
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