家族性高三酰甘油血症的遗传因素

The Genetic Factors of Familial Hypertriglyceridemia

家族性高三酰甘油血症（FHTG）是一种家族性的以TG显著升高为特征的常染色体显性遗传疾病，血液中高水平的TG是心血管疾病的重要危险因素。目前认为FHTG是复杂的多基因病。多种因素可以导致高三酰甘油血症，包括遗传因素和环境因素。FHTG的主要候选基因为脂蛋白酯酶（LPL）基因，该基因具有200多种突变。其他的遗传因素包括apoC-Ⅲ、apoE、apoC—Ⅰ、apoC—Ⅱ等。遗传筛查有利于FHTG的诊断和治疗。

Familial hypertriglyceridemia is a common autosomal dominant dyslipidemia, which is characteristized by high levels of serum triglyceridemia（TG）. High level of TG is an important risk factor of cardio- vascular disease. FHTG is considered to be a complex polygenie disease. Many factors could cause FHTG phenotype, including genetic factors and environmental factors. The main candidate gene of FHTG is lipoprotein lipase,which has more than 200 mutations. The other genetic factors include apoC-Ⅲ, apoE, apoC- Ⅰ and apoC- Ⅱ. Genetic testing is useful for diagnosis and treatment of FHTG.