肾素和血管紧张素原基因多态性与脑梗死的关系

Relationship between rennin and angiotensinogen gene polymorphisms and cerebral infarction

目的研究肾素(REN)基因G10631A、血管紧张素原(AGT)基因T704C、C521T单核苷酸多态性与脑梗死的关系。方法选择180例脑梗死患者和130例健康对照者,采用聚合酶链式反应-限制性片段长度多态性(PCR-RFLP)技术,检测REN基因G10631位点、AGT基因T704、C521位点基因型和等位基因,比较两组基因型及等位基因频率的差异。并运用Logistic回归分析脑梗死的危险因素。分析该人群单倍型结构,以期在本组人群中发现脑梗死相关的多态组合。结果①脑梗死组REN 10631 AA基因型频率(31.7%)及A等位基因频率(49.4%)高于对照组(10.0%和30.3%),差异有统计学意义,P<0.05。②脑梗死组AGT 704 CC基因型频率(63.3%)及C等位基因频率(79.7%)高于对照组(34.6%和61.2%),差异有统计学意义,P<0.05。③脑梗死组AGT521TT基因型频率(21.7%)及T等位基因频率(27.8%)高于对照组(6.9%和11.9%),差异有统计学意义,P<0.05。④经多因素Logistic回归分析,REN 10631AA基因型、AGT 704CC基因型、AGT521TT基因型可以增加脑梗死的发生概率,发病的相对危险度(OR)分别为2.617(95%CI:1.033～6.628)、2.699(95%CI:1.274～5.716)、3.362(95%CI:1.266～8.934),差异有统计学意义,P<0.05。⑤单倍型521T-10631A-704C在脑梗死组的分布频率高于健康对照组(P=0.000)。结论 REN 10631AA基因型和A等位基因、AGT704CC基因型和C等位基因、AGT 521TT基因型和T等位基因可能为脑梗死的易患因素。单倍型521T-10631A-704C可能是脑梗死发病的遗传危险因素。

Objective To study the relationship between the renin （REN） gene G10631 A, angiotensinogen （AGT） gene T704C, C521T mononueleotide polymorphisms and cerebral infarction. Methods One hundred eighty patients with cerebral infarction and 130 healthy controls were recruited. The polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP） technique was used to detect the REN G10631 site, AGT T704 and C521 site genotype and allele. The differences of the genotype and allele frequencies in both groups were compared. Logistic regression was used to analyze the risk factors for cerebral infarction. The haplotype structure of the population was analyzed in order to find cerebral infarction related polymorphism combination in this population. Results ①The REN 10631 AA genotype frequency （31.7%） and the A allele frequency （49.4%） in the cerebral infarction group were higher than 10.0% and 30.3% in the healthy control group （P 〈0. 05）. ②The AGT 704 CC genotype frequency （63.3%） and C allele frequency （79.7%） in the cerebral infarction group were higher than 34.6% and 61.2% in the healthy control group （P 〈 0. 05）. ③The AGT 521Tr genotype frequency （21.7%） and T allele frequency （27.8%） in the cerebral infarction group were higher than 6.9% and 11.9% in the healthy control group （P 〈0. 05）. ④Muhivariate Logistic regression analysis showed that REN 10631AA genetype, AGT 704CC genetype, and AGT521TF genetype could increase the probability of cerebral infarction. The relative risk （OR） of the onset was 2. 617, 2. 699, and 3. 362, respectively （P 〈 0. 05） ; ⑤Tbe distribution frequency of the haplotype 521T-10631A-704C in the cerebral infarction group was higher than that in the healthy control group （P = 0. 000）. Conclusion REN gene 10631AA genetype and A allele, AGT 704CC genetype and C allele, and AGT 521TT genetype and T allele may be the susceptible factors of cerebral infarction. Haplotype 521T-10631A-704C may be the genetic risk factors for the onset of cerebral infarction.