Genetic variation in apolipoprotein A-V in hypertriglyceridemia.

IF 3.8 3区医学 Q2 BIOCHEMISTRY & MOLECULAR BIOLOGY

Current opinion in lipidology Pub Date : 2023-12-21 DOI:10.1097/mol.0000000000000916

Shehan D Perera, Robert A Hegele

引用次数: 0

Abstract

While biallelic rare APOA5 pathogenic loss-of-function (LOF) variants cause familial chylomicronemia syndrome, heterozygosity for such variants is associated with highly variable triglyceride phenotypes ranging from normal to severe hypertriglyceridemia, often in the same individual at different time points. Here we provide an updated overview of rare APOA5 variants in hypertriglyceridemia.

查看原文本刊更多论文

高甘油三酯血症中载脂蛋白 A-V 的遗传变异。

虽然双拷贝罕见 APOA5 致病性功能缺失（LOF）变体会导致家族性乳糜微粒血症综合征，但此类变体的杂合性与甘油三酯表型的高度可变性有关，从正常到严重的高甘油三酯血症不等，通常在不同时间点出现在同一个人身上。在此，我们提供了有关高甘油三酯血症中罕见 APOA5 变异的最新概述。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

求助全文

约1分钟内获得全文求助全文

来源期刊

Current opinion in lipidology 医学-内分泌学与代谢

CiteScore

6.70

自引率

4.50%

发文量

审稿时长

6-12 weeks

期刊介绍： With its easy-to-digest reviews on important advances in world literature, Current Opinion in Lipidology offers expert evaluation on a wide range of topics from six key disciplines including nutrition and metabolism, genetics and molecular biology, and hyperlipidaemia and cardiovascular disease. Published bimonthly, each issue covers in detail the most pertinent advances in these fields from the previous year. This is supplemented by a section of Bimonthly Updates, which deliver an insight into new developments at the cutting edge of the disciplines covered in the journal.