Genetic Variants Associated with Gestational Hypertriglyceridemia and Pancreatitis
| Autor: | Mengtao Zhou, Xie-Lin Huang, Rong Jin, Zhiming Huang, Tan-Zhou Chen, Sai-Li Xie, Chao Chen |
|---|---|
| Rok vydání: | 2014 |
| Předmět: |
Adult
medicine.medical_specialty Apolipoprotein C-II lcsh:Medicine Compound heterozygosity medicine.disease_cause Young Adult Pregnancy Internal medicine medicine Humans lcsh:Science Apolipoproteins A Receptors Lipoprotein Hypertriglyceridemia Lipoprotein lipase Mutation Multidisciplinary business.industry lcsh:R GPIHBP1 Genetic Variation Membrane Proteins medicine.disease ddc Pregnancy Complications Lipoprotein Lipase Endocrinology Pancreatitis Apolipoprotein A-V lcsh:Q lipids (amino acids peptides and proteins) Female Apolipoprotein C2 business Research Article |
| Zdroj: | PLoS ONE PLoS ONE, Vol 10, Iss 6, p e0129488 (2015) |
| ISSN: | 1932-6203 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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