高甘油三酯血症的遗传学进展
Genetic Insights in Hypertriglyceridemia
DOI: 10.12677/acm.2025.1541228, PDF,    科研立项经费支持
作者: 张 炜：内蒙古医科大学鄂尔多斯临床医学院，内蒙古 呼和浩特；朱 磊*：内蒙古医科大学鄂尔多斯临床医学院，内蒙古 呼和浩特；鄂尔多斯市中心医院妇产科，内蒙古 鄂尔多斯
关键词: 高甘油三酯血症；遗传学；基因；Hypertriglyceridemia； Genetics； Gene
摘要: 高甘油三酯血症是一种异常复杂的代谢性疾病，其特征是血浆甘油三酯水平升高，与急性胰腺炎和心血管疾病的风险增加相关。其表型表达具有广泛的异质性，且受到肥胖、饮酒或代谢综合征等条件的强烈影响。本文综述聚焦于高甘油三酯血症的遗传基础，探讨了与甘油三酯调节基因(如LPL、APOA5、APOC2、GPIHBP1和LMF1)相关的遗传变异，这些基因与甘油三酯富脂蛋白代谢相关蛋白的异常转录和翻译有关。由这些遗传异常引起的高甘油三酯血症可分为单基因型或多基因型。单基因型高甘油三酯血症，也称为家族性乳糜微粒血症综合征，是由这五个典型基因的双等位基因(纯合或复合杂合)致病变异引起的。多基因型高甘油三酯血症，也称为多因素性乳糜微粒血症综合征(在极严重的高甘油三酯血症中)，是由典型基因的杂合致病变异(具有可变的外显率)以及一组与甘油三酯水平升高有明确关联的常见非致病变异(多态性)引起的。
Abstract: Hypertriglyceridemia is an exceptionally complex metabolic disorder, characterized by elevated plasma triglyceride levels, which are associated with an increased risk of acute pancreatitis and cardiovascular diseases. The phenotypic expression of hypertriglyceridemia is highly heterogeneous and strongly influenced by conditions such as obesity, alcohol consumption, or metabolic syndrome. This review focuses on the genetic basis of hypertriglyceridemia, exploring genetic variants related to triglyceride-regulating genes (such as LPL, APOA5, APOC2, GPIHBP1, and LMF1), which are associated with abnormal transcription and translation of proteins involved in triglyceride-rich lipoprotein metabolism. Hypertriglyceridemia caused by these genetic abnormalities can be classified as monogenic or polygenic. Monogenic hypertriglyceridemia, also known as familial chylomicronemia syndrome, is caused by biallelic (homozygous or compound heterozygous) pathogenic variants in these five typical genes. Polygenic hypertriglyceridemia, also referred to as multifactorial chylomicronemia syndrome (in severe hypertriglyceridemia), is caused by heterozygous pathogenic variants in typical genes (with variable penetrance) and a set of common non-pathogenic variants (polymorphisms) that have a clear association with elevated triglyceride levels.
文章引用：张炜, 朱磊. 高甘油三酯血症的遗传学进展[J]. 临床医学进展, 2025, 15(4): 2686-2692. https://doi.org/10.12677/acm.2025.1541228

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