动脉硬化性脑梗死患者载脂蛋白A5基因多态性研究

目的研究载脂蛋白A5基因-1131T>C多态性位点各基因型及等位基因分布频率及其与动脉硬化性脑梗死(arteriosclerotic cerebral infarction,ACI)的关系。方法选择221例湖北地区汉族人群(对照组)及90例ACI患者(ACI组),应用聚合酶链反应限制性片段长度多态性对每个个体的基因型进行鉴定。同时,采用酶法和免疫比浊法对研究对象血脂进行检测。结果2组间除性别、年龄、体重指数无显著差异外,其他各项指标(吸烟、收缩压、舒张压、胆固醇、高密度脂蛋白胆固醇、低密度脂蛋白胆固醇、载脂蛋白A1及载脂蛋白B)均有显著差异(P<0.05);ACI组稀有等位基因C携带者甘油三酯水平明显高于C非携带者,2组中TT、TC、CC 3种基因型甘油三酯水平差异有显著性意义(P<0.05);ACI组稀有等位基因C的频率明显高于对照组(χ2=5.568,P=0.018)。结论apoA5-1131C等位基因与ACI患者甘油三酯水平升高有关,其不同基因型及等位基因在湖北汉族人群及ACI患者中的分布不同,可能与该地区人群ACI危险性有关。

The investigation of polymorphism of apolipoprotein A5 gene in patients with arteriosclerotic cerebral infarction

Objective To investigate the relationship between the polymorphism of apolipoprotein A5 gene(-1131T>C) and the levels of serum lipids and arteriosclerotic cerebral infarction(ACI).Methods Polymerase chain reaction restriction-fragments length polymorphisms,enzymatic method and immunonephelometry were used to detect-1131T>C genotype and allele frequency and plasma lipid in 90 ACI patients and 221 healthy controls from Hubei area.Results Except sex,age and BMI,the levels of SBP,DBP and TC were significantly different between the 2 groups.In ACI group,the level of TG in carriers of allele C was higher than that in non-allele C carriers(P<0.05).The frequencies of-1131 TT,TC,CC genotypes in ACI group were not significantly different from those in control(χ~2=4.910,P=0.086),but the frequency of minor allele C in ACI group was higher than that in control(χ~2=5.568,P=0.018).Conclusion apoA5-1131 minor allele C was associated with increase in TG level of ACI patient.The frequencies of diverse apoA5-1131T/C genotypes and allele were different in ACI group and control,and were probably associated with ACI risk in Hubei Han.