ArticleThe Journal of clinical investigation2005
Apoa5 Q139X truncation predisposes to late-onset hyperchylomicronemia due to lipoprotein lipase impairment.
Article in The Journal of clinical investigation, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 55 papers.
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55 citing papers in PubMed, 169 citations in OpenAlex.
- Clinical and functional evidence supporting pathogenicity of a novel APOA5 variant in familial chylomicronemia syndrome.Archives of endocrinology and metabolism · 2026Article
- Heterozygosity for pathogenic variants in familial chylomicronemia syndrome genes: from carrier state to complex trait.Current opinion in lipidology · 2026Review
- Effects of fenofibrate on angiopoietin-like 3/4/8 proteins and apolipoprotein A5.Journal of lipid research · 2026Article
- The ApoA5-Cidec axis: keeping fibrosis and MASLD at bay.Journal of molecular medicine (Berlin, Germany) · 2026Article
- A neutralizing APOA5 monoclonal antibody reduces amounts of lipoprotein lipase in capillaries and triggers hypertriglyceridemia.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- A brief clinical genetics review: stepwise diagnostic processes of a monogenic disorder-hypertriglyceridemia.Translational pediatrics · 2024Review
- APOA5 deficiency causes hypertriglyceridemia by reducing amounts of lipoprotein lipase in capillaries.Journal of lipid research · 2024Review
- Monogenic hypertriglyceridemia and recurrent pancreatitis in a homozygous carrier of a rare APOA5 mutation: a case report.Journal of medical case reports · 2024Article
- Review
- Hypertriglyceridemia in Apoa5-/- mice results from reduced amounts of lipoprotein lipase in the capillary lumen.The Journal of clinical investigation · 2023Article
- Alleviating the effect of quinoa and the underlying mechanism on hepatic steatosis in high-fat diet-fed rats.Nutrition & metabolism · 2021Article
- Current Diagnosis and Management of Primary Chylomicronemia.Journal of atherosclerosis and thrombosis · 2021Review
- Emerging evidences for the opposite role of apolipoprotein C3 and apolipoprotein A5 in lipid metabolism and coronary artery disease.Lipids in health and disease · 2019Review
- Very Severe Hypertriglyceridemia in a Large US County Health Care System: Associated Conditions and Management.Journal of the Endocrine Society · 2019Article
- Critical Role of SREBP-1c Large-VLDL Pathway in Environment-Induced Hypertriglyceridemia of Apo AV Deficiency.Arteriosclerosis, thrombosis, and vascular biology · 2019Article
- Analysis of causal effect of APOA5 variants on premature coronary artery disease.Annals of human genetics · 2018Article
- Candidate gene polymorphisms related to lipid metabolism in Asian Indians living in Durban, South Africa.The Indian journal of medical research · 2018Article
- Atherogenesis and metabolic dysregulation in LDL receptor-knockout rats.JCI insight · 2017Article
- The APOA5 rs662799 polymorphism is associated with dyslipidemia and the severity of coronary heart disease in Chinese women.Lipids in health and disease · 2016Article
- Apolipoprotein A-V gene therapy for disease prevention / treatment: a critical analysis.Journal of biomedical research · 2016Review
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14 authors at 1 institution in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
While type 1 hyperlipidemia is associated with lipoprotein lipase or apoCII deficiencies, the etiology of type 5 hyperlipidemia remains largely unknown. We explored a new candidate gene, APOA5, for possible causative mutations in a pedigree of late-onset, vertically transmitted hyperchylomicronemia. A heterozygous Q139X mutation in APOA5 was present in both the proband and his affected son but was absent in 200 controls. It was subsequently found in 2 of 140 cases of hyperchylomicronemia. Haplotype analysis suggested the new Q139X as a founder mutation. Family studies showed that 5 of 9 total Q139X carriers had hyperchylomicronemia, 1 patient being homozygote. Severe hypertriglyceridemia in 8 heterozygotes was strictly associated with the presence on the second allele of 1 of 2 previously described triglyceride-raising minor APOA5 haplotypes. Furthermore, ultracentrifugation fraction analysis indicated in carriers an altered association of Apoa5 truncated and WT proteins to lipoproteins, whereas in normal plasma, Apoa5 associated with VLDL and HDL/LDL fractions. APOB100 kinetic studies in 3 severely dyslipidemic patients with Q139X revealed a major impairment of VLDL catabolism. Lipoprotein lipase activity and mass were dramatically reduced in dyslipidemic carriers, leading to severe lipolysis defect. Our observations strongly support in humans a role for APOA5 in lipolysis regulation and in familial hyperchylomicronemia.
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