血管紧张素转换酶基因DD基因型与脑出血的相关性研究

目的探讨血管紧张素转换酶(ACE)基因多态性分布与高血压脑出血发病的关系。方法应用聚合酶链反应方法检测200名健康人(NT)及80例高血压合并脑出血患者ACE I/D基因多态性。结果脑出血患者的DD基因型及D等位基因频率和正常对照组比较差异有显著意义(P＜0．05)。结论ACE基因DD基因型和D等位基因携带者可能是高血压合并脑出血的易感因素。     

血管紧张素转换酶基因多态性与高血压合并脑血管病的关系

目的　研究血管紧张素转换酶 (ACE)基因多态性和高血压合并脑血管病的关系。方法　应用PCR方法检测正常对照者 (6 6人 )、高血压 (4 0例 )、高血压脑梗死 (5 4例 )、腔隙性脑梗死 (4 5例 )、高血压合并脑出血 (33例 )患者的ACE基因插入 /缺失 (I/D)多态性 ,同时测定 6例脑梗死患者急性期和恢复期血浆血管紧张素Ⅱ (AngⅡ )水平。结果　高血压患者的ACE基因型及等位基因频率和正常对照组及高血压合并不同脑血管病患者比较无显著差异 (P >0 0 5 ) ,高血压合并不同脑血管病患者的ACE基因型及等位基因频率和正常对照组比较无显著差异 ,但高血压合并脑出血组的ACE基因型及等位基因频率较其他组高 ;脑梗死患者急性期血浆AngⅡ水平显著高于恢复期 (P <0 0 5 )。结论　高血压合并脑出血的发病可能与ACE基因I/D多态性有关 ,血浆AngⅡ水平升高可能是脑梗死患者急性期血压升高的因素之一     

高原地区藏族ACE基因I/D多态性与脑出血的关系研究

目的探讨血管紧张素转化酶(ACE)基因插入/缺失(I/D)多态性与高原地区世居藏族脑出血的相关性。方法收集青海地区高原世居藏族脑出血患者52例(男27例,女25例)为病例组,与之年龄、性别、居住地相匹配的同期体检的世居健康藏族51例(男28例,女23例)为对照组,收集一般资料。利用聚合酶链式反应(PCR)检测所有样本的ACE基因I/D多态性。结果病例组ACE基因型:DD型9例(17.31%),II型21例(40.38%),ID型22例(42.31%);等位基因频率:D等位基因38.46%,I等位基因61.54%;对照组ACE基因型:DD型10例(19.61%),II型19例(37.26%),ID型22例(43.13%);等位基因频率:D等位基因41.18%,I等位基因58.82%。两组间基因型、等位基因比较无显著性差异(基因型χ~2为0.14,等位基因χ~2为0.16,P0.05)。结论ACE基因I/D多态性与青海高原地区藏族脑出血无相关性,ACE基因I/D多态性可能不是高原世居藏族人群脑出血的遗传易感因素。     

血管紧张素转换酶基因多态性与高血压腔隙性脑梗死关联性的研究

目的 研究血管紧张素转换酶（ACE）基因插入／缺失（I／D）多态性与高血压腔隙性脑梗死的关系。方法 （1）应用聚合酶链反应（PCR）方法扩增50例正常人、49例高血压无并发症患、30例高血压腔隙性脑梗死患的ACE基因上287Bp片段，根据插入（I）或／缺失（D）来判断其多态性。（2）用CT或MRI诊断腔隙性脑梗死。结果 （1）腔隙性脑梗死组与健康对照组相比，其D等位基因及DD基因型显升高。微量蛋白尿组与健康对照组相比，其D等位基因及DD基因型显升高。（2）腔隙性脑梗死组与高血压无并发症组相比，其D等位基因及DD基因型显升高。（3）高血压无并发症组与健康对照组相比，ACE基因型和等位基因频率无显性差异。结论 ACE基因多态性与高血压腔隙性脑梗死患有关联性，DD基因型提示可能与高血压腔隙性脑梗死有关。     

蒙古族腔隙性脑梗死患者的ACE基因多态性研究

目的探讨血管紧张素转换酶(ACE)基因与蒙古族腔隙性脑梗死(LI)的关系和ACE基因I/D多态性的遗传规律.方法采用聚合酶链反应(PCR)扩增方法检测33例LI患者和30例健康人的ACE基因型,并对两者ACE基因I/D多态性进行对比分析.结果患者ACE基因DD基因型及D等位基因频率为(0.3,0.47)明显高于对照组(0.1,0.25),二者相比有显著性差异(P＜0.05).结论ACE基因插入(I)/缺失(D)多态性与蒙古族LI患者有关,ACE基因DD基因型或D等位基因可能是蒙古族LI患者的遗传学基础之一     

血管紧张素转换酶基因多态性与脑出血的关系

目的高血压是脑出血最主要的危险因素，与血压水平或高血压相关的基因可能通过血压和其它途径在脑出血的发生、发展中起重要作用。本文通过大样本病例一对照研究，拟探讨血管紧张素转换酶(ACE)基因I／D多态性与脑出血的相关性。方法多中心病例对照研究，从7个研究中心收集475例脑出血病例，匹配475例对照．病例和对照均接受心脑血管病标准问卷调查、血生化检查。PCR检测ACE基因I／D多态性。结果脑出血组和对照组ACE基因I／D多态性基因型频数分布符合Hardy—Weinberg平衡。两组ACE基因I／D多态性基因型和等位基因频率分布差异无明显统计学意义(基因型：x^2=0．172，P=0．918；等位基因：x^2=0．08，P=0．773)。多因素分析调整传统危险因素后，ACE基因ORDI／Ⅱ=1．09(95％ CI 0．68～1．78)，ORDD／Ⅱ=1．10(95％ CI 0．69～1．77)，表明ACE基因I／D多态性和脑出血无关。结论ACE基因I／D多态性和脑出血不存在关联关系，ACE基因I／D多态性可能不是中国人脑出血的遗传影响因素。     

血管紧张素转换酶基因多态性与白族脑血管病患者的相关性研究

目的研究血管紧张素转换酶(ACE)基因插入/缺失多态性与云南大理白族脑血管病患者的相关性。方法应用聚合酶链式反应-限制性片段长度多态性(PCR-RFLP)技术,对73例白族脑血管病(ICVD)组患者(其中脑梗死40例,脑出血33例)和43例性别年龄相匹配的白族健康对照组进行ACE基因型检测和基因插入/缺失多态性分析;并进行ACE基因双向测序。结果(1)脑梗死组的DD基因型频率和D等位基因频率明显高于对照组(P<0.05);(2)脑出血组与对照组相比较,未发现DD基因型频率和D等位基因频率有明显差异(P>0.05);(3)脑血管组内伴高血压与不伴高血压,伴糖尿病与不伴糖尿病,伴血脂异常与血脂正常者相比较,未发现DD基因型频率和D等位基因频率有显著差异(P>0.05);(4)D等位基因和I等位基因其核苷酸序列和长度与国内外文献报道无明显差别。结论(1)ACE基因插入/缺失多态性与脑梗死的发生有关联性,DD基因型和D等位基因是脑梗死患者的高危因素;(2)ACE基因插入/缺失多态性与脑出血发生未发现有关联性;(3)脑血管病的其他相关危险因素如高血压,糖尿病,血脂与ACE基因多态性可能无关联;(4)ACE基因16内含子...     

ACE基因插入／缺失多态性与脑血管病的关联性研究

目的:探讨血管紧张素转换酶(ACE)基因插入(I)/缺失(D)多态性与脑血管病(CVD)的关系。方法:采用聚合酶链反应技术(PCR)检测19Z例卒中患者、95例高血压病人和124例正常人的ACE基因多态性。结果:CVD组ACE基因D等位基因频率为0.58,明显高于高血压对照组(P＜0.02)和正常对照组(P＜0.01),DD基因型频率明显高于正常对照组(P＜0.05)。腔隙性梗死(LACI)组的DD基因型显著高于对照组(P＜0.05)。多元回归分析发现ACE*DD基因型与卒中无明显相关性(P＜0.08),而与LACI存在明显相关性(P=0.048)。结论:ACE基因缺失多态性在LACI的形成中可能产生重要作用。     

血管紧张素转换酶基因插入/缺失多态性与原发性高血压合并缺血性脑卒中关系的Meta分析

目的研究血管紧张素转换酶(ACE)基因插入/缺失(I/D)多态性与原发性高血压(EH)合并缺血性脑卒中(IS)(EH+IS)的关系。方法检索1997年1月～2010年10月4个中国著名科技期刊全文数据库和Medline中收录的有关ACE基因I/D多态性与EH+IS的病例对照研究的文献,按纳入、排除标准选择文献,并采用RevMan 5.0软件进行Meta分析。结果共纳入12项病例对照研究,其中EH+IS患者1068例,EH患者1225例。Meta分析结果表明,EH人群携带D等位基因和DD基因型者发生IS的危险性分别明显高于I等位基因和非DD基因型者,合并OR分别为1.50(95%CI:1.33～1.70)和1.83(95%CI:1.32～2.55);而携带II基因型者发生IS危险性要低于非II基因型者,合并OR为0.63(95%CI:0.53～0.76)。结论 ACE基因I/D多态性与EH人群IS的发病有密切关系,D等位基因和DD基因型是IS的危险因素。     

ACE基因多态性与脑出血的相关性研究

目的　探讨血管紧张素转换酶 (ACE)基因多态性和脑出血发病的关系。方法　应用 PCR方法检测82例脑出血患者和 86例健康者 ACE基因的缺失 /插入多态性。结果　脑出血患者的 DD基因型及 D等位基因频率和正常对照组比较差异有显著意义 ;伴高血压的脑出血患者的 DD基因型和 D等位基因频率明显高于无高血压的脑出血患者 ;无高血压史的脑出血患者的 DD基因型和 D等位基因频率明显高于正常对照组 ;DD基因型和 D等位基因频率与性别、有无糖尿病、高脂血症及吸烟无关。结论　 DD基因型和 D等位基因携带者具有脑出血易感性 ,这种易感性不依赖于高血压     

ACE I/D polymorphism in Korean patients with ischemic stroke and silent brain infarction

Objectives –  Angiotensin-converting enzyme ( ACE ) polymorphism may play a role in stroke and silent brain infarction (SBI) susceptibility, but the results among the populations studied to date have not been consistent. Thus, we investigated the association between ACE genotypes and ischemic stroke and SBI in Korean patients.
Subjects and methods –  DNA samples from 237 stroke patients, 264 SBI patients and 234 age-matched controls were amplified using polymerase chain reaction to detect the ACE ins/del (I/D) polymorphism. Genotype was determined by the presence of a 490-bp band ( I allele) or a 190-bp band ( D allele) in agarose gel electrophoresis.
Results –  Odds ratios of the I/D and D/D genotypes and the overall (I/D + D/D) for the I/I genotype were significantly different between stroke patients and normal controls. However, there was no significant difference between patients with SBI and controls.
Conclusions –  This study is the first report of a significant association between ACE polymorphism and ischemic stroke in the Asian population. Although no consistent associations have been found between ACE polymorphism and stroke in the populations studied to date, the ACE polymorphism may be a genetic determinant of ischemic stroke, at least in Korean patients.     

Genetic polymorphisms and coronary artery disease in the south of France

Vascular disease is a multifactorial disease that involves atherosclerotic and thrombotic factors. Genetic polymorphisms have been associated with myocardial infarction and angina pectoris. The aim of the present study was to assess the relationship between some genetic polymorphisms and myocardial infarction (MI) or vasospastic angina pectoris in a population from southern France. Genetic polymorphisms of the renin angiotensin system (the D/I polymorphism of the ACE gene and the A1166C polymorphism of the angiotensin II type 1 receptor [AT1R]) and of haemostatic factors (the -675 4G/5G polymorphism of the plasminogen-activator inhibitor 1[PAI-1] gene, and the G to T common point mutation in exon 2, codon 34 of the Factor XIII A-subunit gene) were examined. We assessed the genotype distribution in consecutive coronary artery disease (CAD) patients with MI (n = 201) and vasospastic angina pectoris (n = 43) and in 244 healthy controls comparable in age, sex, body mass index and total cholesterol level. The genotype distribution of AT1R polymorphism was significantly different between controls and patients, the prevalence of the C allele carriers being higher in patients with MI after the age of 45 than in control individuals (61 vs 45%, p <0.01), leading to an odds ratio (OR) of 2 (CI: 1.2-3.4). When looking at the group of patients with vasospastic angina the difference was even higher (76 vs 45%, p <0.01) yielding an OR of 4.3 (CI: 1.4-17.4). Genotype distributions of ACE, PAI-1 and Factor XIII polymorphisms were similar in patients and in controls. This study is in favor of a role of ATIR gene polymorphism in myocardial infarction and vasospastic angina.     

Polymorphism of the angiotensin-converting enzyme gene in patients with cerebral infarction in koreans

The relationship between cerebrovascular disease and an insertion/deletion (I/D) polymorphism in the angiotensin-converting enzyme (ACE) gene is still being debated. The frequency of the DD genotype of the ACE gene was significantly higher in subjects with than those without cerebral infarction in Japan. The aim of the present study was to assess the relationship between ACE gene polymorphism and the development of cerebral infarction in a population from Korea. We examined its possible role as a risk factor in patients with cerebral infarction. The association between ACE gene polymorphism and cerebral infarction was examined in 106 patients with cerebral infarction and 498 controls without cerebral infarction. Frequencies of the genotypes and alleles of the ACE gene were investigated. The ACE genotype was analyzed by the polymerase chain reaction (PCR). The frequency of D allele was 37.7% in patients and 39.1% in controls (X ²=0.128, p=0.720). The frequencies of the genotypes of the ACE gene were II:39.6%, ID:45.3%, and DD:15.1% in patients, and II:37.1%, ID:47.6%, and DD:15.3% in controls (X ²=0.127, p=0.721). There was no significant difference in the frequency of the DD genotype of the ACE gene, and we did not find any association between ACE polymorphism and cerebral infarction. These results indicate that ACE polymorphism is not a risk factor for the development of cerebral infarction in a Korean population.     

凝血酶激活的纤溶抑制物基因3’端+1583A/T多态性与动脉粥样硬化性脑梗死的关系

目的分析中国汉族人群凝血酶激活的纤溶抑制物(TAFI)基因3’端+1583A/T多态性与动脉粥样硬化性脑梗死发病的关系。方法本研究采用病例-对照研究,选择中国汉族人群225例动脉粥样硬化性脑梗死(病例组)和184例健康体检者(对照组)为对象,应用聚合酶链反应-限制性内切酶片段长度多态性分析方法(PCR-RFLP)检测TAFI+1583A/T多态性。结果 TAFI+1583 A/T在病例组的A等位基因频率为24.7%,对照组为25.0%,两组比较经χ2检验差异无显著性(P=0.913)。病例组AA基因型为6.7%,对照组为3.8%,两组比较经χ2检验差异无显著性(P=0.202)。结论 TAFI+1583A/T与脑梗死的发病无关。     

Association of Angiotensin-converting enzyme insertion(I)/deletion (D) genotype in Alzheimer's disease patients of north Indian population

Several lines of evidence support for the role of angiotensin-converting enzyme (ACE) in Alzheimer's disease (AD) patients. Most human genetic studies have focussed on ACE insertion (I)/deletion (D) polymorphism and have yielded conflicting results. We have evaluated the association of ACE polymorphism with serum ACE activity in 95 AD patients and 110 healthy controls from north Indian population. In Alzheimer's patients a higher frequency of D allele was detected (I/D ratio 0.53:0.47) compared with the control group (I/D ratio 0.54:0.45), the difference being not statistically significant (p > .05). AD patients were found to be more homozygous for the D allele (26.3%) compared with controls (20.8%). The observed genotype distribution was in agreement with Hardy-Weinberg equilibrium. We observed that the D/D genotype is more in patients with a higher serum ACE activity. The D allele and the D/D genotype in AD patients may influence increased risk of cognitive impairment.     

Renin-angiotensin-aldosterone system in brain infarction and vascular death

The renin-angiotensin-aldosterone system has functions that may contribute to brain infarction (BI). In 459 matched pairs of white patients and control subjects, we measured plasma angiotensin-converting enzyme (ACE) levels, seven polymorphisms (angiotensinogen T174M and M235T, ACE I/D and 4656 2/3CT repeat [rpt], angiotensin II type 1 receptor A1166C and A153G, and aldosterone synthase CYP11B2), and evaluated 5-year poststroke mortality. Mean plasma ACE levels (+/-standard error) were significantly greater in patients than control subjects (37.5 +/- 0.9 vs 33.9 +/- 0.9), in patients with lacunar stroke, and in patients with no previous vascular (cerebrovascular or cardiovascular) history. The risk for BI increased with tertiles of plasma ACE, without an interaction with hypertension. After adjustments, the association disappeared except among patients with cardioembolic BI and those without previous vascular events. Among the polymorphisms, there was a weak association of BI with angiotensin II type 1 receptor 1166C, a weak protective effect with angiotensinogen 174M, and a strong association of angiotensinogen 235T with 5-year vascular mortality. These results suggest that renin-angiotensin-aldosterone system activity and genes contribute to cerebrovascular disease and poststroke vascular death in white patients.     

血管紧张素原、血管紧张素转换酶基因多态性 与脑卒中相关性研究

目的　探讨血管紧张素原基因 (AGT)的M2 35T基因多态性、血管紧张素转换酶 (ACE)基因的插入 (I) /缺失 (D)多态性与中国汉族人脑卒中发病的相关性。方法　采用PCR法和PCR RFLR法检测 10 0例脑卒中患者 (脑梗死患者 72例 ,脑出血患者 2 8例 )以及 10 0例正常人ACE(I/D)和AGT(M2 35T)的基因多态性。结果　在脑卒中患者中ACE的纯合插入 (I)基因型和I等位基因频率增加 (x2 =4 17,P =0 0 4 1) ,AGT基因的 2 35TT基因型和T等位基因频率明显增加 (x2 =2 6 79,P <0 0 0 1)。结论　同期监测AGT及ACE基因多态性是一项对急性脑血管病风险因素分子水平的检测方法 ,这对筛选脑卒中高危人群并早期采取干预对策 ,防治脑卒中有一定意义。