载脂蛋白C-Ⅲ基因多态性的研究进展

摘要

载脂蛋白C-Ⅲ(APOC-Ⅲ)通过抑制脂蛋白酶而调节体内脂质代谢.APOC-Ⅲ基因的多态性变化会影响APOC-Ⅲ蛋白的表达与功能,引起体内脂质代谢的改变.研究比较深入的APOC-Ⅲ基因多态性位点是位于3端非编码区的3238C＞G(即Sstl多态性),位于启动子区胰岛素反应元件上的-482C ＞T和-455T＞C,它们与代谢综合征(MS)、冠心病(CAD)、非酒精性脂肪性肝病(NAFLD)密切相关.本综述旨在总结前人的研究成果,为今后的工作发现新思路.%ApolipoproteinC - Ⅲ (APOC - Ⅲ ) can affect lipid metabolism through inhibition of lipoprotein lipase(LPL). Polymorphisms in the APOC - Ⅲ gene may affect the expression and function of the protein, thereafter interfering the lipid metabolism. The most famous single nucleotide polymorphisms (SNPs) are 3238C > G polymorphism ( SstI site) in the 3 untranslated region, -482C>Tand -455T>Cpoly-morphisms in the insulin response element(IRE) of the promoter. There are strong associations between APOC - Ⅲ gene variants and diseases such as metabolic syndrome (MS) , coronary artery disease (CAD) and nonalcoholic fatty liver disease (NAFLD). This review aims to summarize achievements and explore new ways for our future work.