脑动静脉畸形直径与载脂蛋白E启动子基因多态性相关性研究

The relationship between cerebralarteriovenous malformation and apolipoprotein E promoter polymorphism

目的本研究从启动子基因多态性的角度探索脑动静脉畸形(AVM)直径与载脂蛋白E基因(APOE)启动子亚型-219 G/T、-427 T/C和-491 A/T之间的关系。方法行颅脑CT血管造影(CTA)检查患者AVM病变,同时取患者静脉血液使用限制性片段长度多态性聚合酶链反应(PCR-RFLP)技术来检测APOE启动子基因型,并使用χ2检验和Logistic回归分析其相关性。结果纳入137例AVM的患者,其中51例患者AVM直径>3 cm,携带-491 A的患者AVM直径>3 cm的比例显著高于携带-491 T的患者,经Logistic回归分析揭示-491 A是AVM大于3 cm的危险因素。结论脑内大于3 cm的AVM的发病可能与患者携带有APOE启动子-491 A相关。

Objective To investigate the relationship between size of cerebral arteriovenous malformation（ AVM） and apolipoprotein E（ APOE） gene promoter subtypes-219 G/T,-427 T/C and-491 A/T.Methods Head CT angiography（ CTA） was used to examine the cerebral arteriovenous malformation. At the same time,venous blood sample was collected and tested by the polymerase chain reaction-restriction fragment length polymorphism（ PCR-RFLP） technique to determine the apolipoprotein E（ APOE） promoter genotype.The χ2 test and logistic regression were used to analyze the relationship.Results Total 137 patients with cerebral AVM were included in this study.There were 51 patients with AVM diameter 3 cm.In patients who carried-491 A,the frequency of AVM diameter3 cm was significantly higher than that of patients carrying-491 T.The logistic regression analysis revealed that-491 A is a risk factor for AVM 3 cm.Conclusion The incidence of cerebral AVM with diameter3 cm may be associated with the patients carrying the APOE promoter-491 A.