血管紧张素Ⅱ受体-1A1166C基因多态性与脑梗死的关系

Relationship between Angiotensin II Type I Receptor (AT_1R)-A1166C Gene Polymorphisms and Cerebral Infarction

目的探讨血管紧张素Ⅱ受体-1(AT1R)A1166C基因多态性与脑梗死(CI)的关系。方法77例CI及98名健康人为研究对象。采用聚合酶链式-限制性片段长度多态性方法检测AT1RA1166C基因多态性。结果在总研究人群中没有发现CC基因型。CI组AA、AC基因型频率分别为38.9%、61.1%,A、C等位基因频率分别为69.5%、30.5%;正常对照组AA、AC基因型频率分别为91.8%、8.2%,A、C等位基因频率分别为95.9%、4.1%。AT1RA1166C各基因型和等位基因频率在CI组和正常对照组分布有统计学意义。另外,CI组中AC杂合型患者较AA纯合型患者的血压水平增高;AA纯合型的收缩压水平及AC杂合型的收缩压、舒张压水平,CI组较正常对照组升高,差异均有统计学意义。结论本研究结果提示AT1RA1166C基因多态性可能是CI发病的遗传因素,也是导致高血压特别是舒张压升高的一个重要因素。

Objective To explore the relationship between angiotensin II type I receptor (AT1R) A1166C gene polymorphisms and cerebral infarction(CI). Methods The study population was comprised of 77 patients with cerebral infarction and 98 healthy individuals. The AT1R-A1166C genotypes were determined by restriction fragment length polymorphism. Results CC genotype was not found both in CI and control group. In CI group, genotypic frequencies of AA and AC were 38.9% and 61.1%, respectively. The allele frequency of A was 0.695 and C was 0.305. In control group, genotypic frequencies of AA and AC were 91.8% and 8.2%, respectively. The allele frequency of A was 0.959 and C was 0.041. AT1R-A1166C polymorphism revealed significant difference of genotype and allelic distribution between CI patients and controls. In CI group, patients with AC genotype showed significantly higher blood pressure than those with AA genotype. The systolic blood pressure in patients with AA genotype, as well as the systolic and diastolic blood pressure in patients with AC genotype in CI group were statistically higher than those in control group. Conclusion The polymorphism of AT1R-A1166C is related to the incidence of cerebral infarction and contributes to the development of hypertension, especially for the diastolic blood pressure.