ArticleYonsei medical journal2018
Variants of Lipolysis-Related Genes in Korean Patients with Very High Triglycerides.
Article in Yonsei medical journal, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 10 citations in OpenAlex.
- The role of lipase maturation factor 1 in hypertriglyceridaemia and atherosclerosis: An update.SAGE open medicine · 2024Review
- Genetic Variants Associated with Supernormal Coronary Arteries.Journal of atherosclerosis and thrombosis · 2023Article
- 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
- Role of Genetics in Preventive Cardiology: Focused on Dyslipidemia.Korean circulation journal · 2021Review
- 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
- CETP, LIPC, and SCARB1 variants in individuals with extremely high high-density lipoprotein-cholesterol levels.Scientific reports · 2019Article
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Authors and funding
9 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We investigated the prevalence and characteristics of variants of five lipolysis-related genes in Korean patients with very high triglycerides (TGs). Twenty-six patients with TG levels >885 mg/dL were selected from 13545 Korean subjects. Five candidate genes, LPL, APOC2, GPIHBP1, APOA5, and LMF1, were sequenced by targeted next-generation sequencing. Predictions of functional effects were performed and matched against public databases of variants. Ten rare variants of three genes were found in nine (34.6%) patients (three in LPL, four in APOA5, and three in LMF1). Five were novel and all variants were suspected of being disease-causing. Nine were heterozygous, and one (3.8%) had a homozygous rare variant of LPL. Six common variants of four genes were observed in 25 (96.2%) patients (one in LPL, one in GPIHBP1, two in APOA5, and two in LMF1). The c.G41T variant of GPIHBP1 and c.G533T variant of APOA5 were most frequent and found in 15 (57.7%) and 14 (53.8%) patients, respectively. Rare homozygous variants of the genes were very uncommon, while diverse rare heterozygous variants were commonly identified. Taken together, most study subjects may be manifesting the combined effects of rare heterozygous variants and common variants.
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