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肾素和血管紧张素原基因多态性与脑梗死的关系
引用本文:孙洪英,和姬苓,杨国安,张利荣,宋瑞琦,张佳. 肾素和血管紧张素原基因多态性与脑梗死的关系[J]. 中国脑血管病杂志, 2010, 7(10): 514-518. DOI: 10.3969/j.issn.1672-5921.2010.10.003
作者姓名:孙洪英  和姬苓  杨国安  张利荣  宋瑞琦  张佳
作者单位:1. 包头医学院第一附属医院神经内科,014010
2. 包头医学院第一附属医院基因诊断中心,014010
基金项目:内蒙古自治区卫生厅项目 
摘    要:
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AGT704CC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AGT521TF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、AGT704CC基因型、AGT521IT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 521TF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。

关 键 词:脑梗死  肾素  血管紧张素原  多态性,单核苷酸  单倍型

Relationship between rennin and angiotensinogen gene polymorphisms and cerebral infarction
SUN Hong-ying,HE Ji-ling,YANG Guo-an,ZHANG Li-rong,SONG Rui-qi,ZHANG Jia. Relationship between rennin and angiotensinogen gene polymorphisms and cerebral infarction[J]. Chinese Journal of Cerebrovascular Diseases, 2010, 7(10): 514-518. DOI: 10.3969/j.issn.1672-5921.2010.10.003
Authors:SUN Hong-ying  HE Ji-ling  YANG Guo-an  ZHANG Li-rong  SONG Rui-qi  ZHANG Jia
Affiliation:.( Department of Neurology, the First Affiliated Hospital of Baotou Medical College, Baotou 014010, China)
Abstract:
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.
Keywords:Cerebral infarction  Renin  Angiotensinogen  Polymorphism, single nucleotide  haplotype
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