载脂蛋白E基因多态性与面肌痉挛发病率的相关性研究

Correlation between apolipoprotein E gene polymorphisms and incidence of hemifacial spasm

摘要:

目的： 研究载脂蛋白E基因（apolipoprotein E gene，APOE）多态性与面肌痉挛发病率是否存在关联。方法： 收集重庆医科大学附属第一医院94例面肌痉挛患者（面肌组）和73例正常人（对照组）的临床资料，采用限制性片段长度多态性聚合酶链反应（cleaved amplification polymorphism sequence-tagged sites，CAPs）检测所有人员的APOE基因型，分别计算出面肌组和对照组3种APOE等位基因，即APOEε2、APOEε3和APOEε4的分布情况，进行统计学分析其分布是否存在差异。结果： 面肌组APOEε4等位基因频率为15.43%，明显高于对照组的6.85%；同时，面肌组的APOEε4等位基因携带者所占比例为29.79%，也明显高于对照组的13.70%，2组之间差异具有统计学意义（P=0.014）。结论： APOE基因多态性可能与面肌痉挛的发病率有关，其中APOEε4等位基因携带者可能更容易罹患面肌痉挛。

Abstract:

Objective: To explore the correlation between the apolipoprotein E (APOE) gene polymorphisms and the incidence of hemifacial spasm. Methods: The information of 94 hemifacial spasm cases (hemifacial spasm group) diagnosed in The First Affiliated Hospital of Chongqing Medical University and 73 normal subjects (control group) was collected for this research. And the APOE genotype was determined by means of cleaved amplification polymorphism sequence-tagged sites (CAPs). Then we obtained the gene frequency of APOEε2, APOEε3 and APOEε4, and compared the distribution of allele between the hemifacial spasm group and the control group. Results: The rate of APOEε4 allele gene in hemifacial spasm group was 15.43%, which was significantly higher than that in control group (6.85%). And the carriers of APOEε4 allele gene accounted for 29.79% in the hemifacial spasm group, which was also significantly greater than that in control group (13.70%). There were significant differences between the two groups (P=0.014). Conclusion: The morbidity of hemifacial spasm is associated with the APOE gene polymorphisms, and the carriers of APOEε4 allele gene may be more likely to suffer from the hemifacial spasm.