载脂蛋白E基因分型方法学进展及其临床意义

ApoE genotyping and its clinical significance

载脂蛋白E (ApoE)在胆固醇和甘油三酯的代谢中具有重要功能。其两个常见单核苷酸多态性(SNP)位点,形成了ε2、ε3和ε4三种等位基因和6种基因型:ε2/ε2,ε3/ε3,ε4/ε4, ε2/ε3,ε2/ε4,ε3/ε4。不同基因型与高脂血症、动脉粥样硬化性心血管疾病(ASCVD)、阿尔茨海默病(AD)的患病风险密切相关,同时还影响他汀类药物的降脂效果。因此ApoE的基因分型在临床上具有重要意义。最初人们通过ApoE蛋白电泳表型分析推断其基因型,到近期快速、准确和便捷的ApoE基因分型方法不断被推出。ApoE基因分型的方法学评价对其临床具有参考价值。

Apolipoprotein E has a dominant function in the metabolic process of triglyceride and cholesterol in multiple tissues of human. The allele of ApoE has three variants ε2, ε3, ε4 and six genotypes ε2/ε2, ε3/ε3, ε4/ε4, ε2/ε3, ε2/ε4, ε3/ε4, due to polymorphisms of two common SNPs. These genotypes associated with kinds of diseases, such as hyperlipidemia, ASCVD, and AD. In addition, they are also related to the treatment effect of statins. Thus, the detection of the ApoE genotypes is valuable and meaningful in the clinic. In this article, there is a simple discussion about the methodology of the ApoE genotypes, from the protein electrophoresis phenotyping to the rapid, precise and convenient genotyping methods, and its clinical significances.