ACE 基因 I/D 多态性与动脉血栓性脑梗死的关联性研究

目的研究血管紧张素转换酶（ACE）基因I/D多态位点与动脉血栓性脑梗死的关联性及相关机制。方法选取动脉血栓性脑梗死患者112例和年龄、性别匹配的对照组180例，采用PCR-AFLP技术对ACE基因I/D位点进行分型。结果单因素分析提示病例组收缩压水平（138.1±19.7 mmHg）显著高于对照组（126.6±20.6 mmHg）（t=4.716，P<0.001）；病例组舒张压水平（88.9±10.1 mmHg）显著高于对照组（79.9±10.0 mmHg）（t=7.450，P<0.001）。病例组中ACE基因I/D位点D等位基因频率和DD基因型频率分布均显著高于对照组（等位基因：χ²=4.953，P=0.026; 基因型：χ²=6.303，P=0.043）。病例组和对照组中ACE基因I/D位点基因型DD携带者收缩压及舒张压水平显著高于基因型ID及II携带者。结论ACE基因I/D位点等位基因D可能是汉族人群动脉血栓性脑梗死遗传易感基因。等位基因D可能通过升高个体血压的机制导致动脉血栓性脑梗死发生。

Association between ACE gene I/D polymorphism and atherothrombotic infarction

Objective To investigate the relationship between angiotensin converting enzyme (ACE) gene I/D polymorphism and atherothrombotic infarction. Methods 112 patients with atherothrombotic infarction and 180 age, sex-matched healthy subjects were recruited. Genotypes were detected by PCR-AFLP. Results Univariate analysis revealed that systolic blood pressure (SBP) levels for patients (138.1 ± 19.7mm Hg) were significantly higher than those for healthy controls (126.6 ± 20.6 mmHg) (t=4.716, P<0.001), and diastolic blood pressure (DBP) levels for patients (88.9±10.1 mmHg) were significantly higher than those for healthy controls (79.9 ± 10.0 mmHg) (t=7.450, P<0.001). Allele D frequency and distribution of frequency for genotype DD of ACE gene I/D polymorphism for patients were significantly higher than those for healthy controls (allele: x2= 4.953, P=0.026; genotype: x2=6.303, P=0.043). In both groups, the SBP and DBP levels for genotype DD were significantly higher than those for genotype ID and II. Conclusion Allele D of ACE gene I/D polymorphism plays a role in elevating blood pressure and may be a major risk factor for atherothrombotic infarction.