血管紧张素转化酶基因I/D多态性与脑梗死后抑郁相关

目的 探讨北京地区汉族人群血管紧张素转化酶(ACE)基因插入/缺失(I/D)多态性与脑梗死后抑郁(PCID)发病的关系.方法 用汉密尔顿抑郁量表评定664例脑梗死患者抑郁状态,用PCR方法检测患者ACE基因I/D多态性,分析基因多态性分布与脑梗死后抑郁发病的相关性.结果 脑梗死后抑郁患者组ACE基因I/I基因型频率和I等位基因频率(分别为0.388和0.549)显著高于脑梗死后非抑郁患者对照组(C)(分别为0.286和0.481,P＜0.05).结论 ACE基因I/D多态性与脑梗死后抑郁发病相关,ACE I/I基因型可能是脑梗死后抑郁发病的危险因素.     

The angiotensin-I converting enzyme (ACE) gene I/D polymorphism and ACE levels in Pima Indians.

An insertion/deletion (I/D) polymorphism of the angiotensin converting enzyme (ACE) gene is associated with plasma ACE levels in white populations. The occurrence of the I/D polymorphism and relationship to ACE levels was examined in a Pima Indian group (n = 305). The frequency of the D allele was lower in Pimas than whites (0.29 v 0.52 respectively). ACE levels were significantly associated with genotype in both groups (p = 0.0001), which accounted for 6.5% of the variation in ACE levels in Pimas and 18% in whites. The association of the I/D polymorphism with ACE levels confirms the relationship across ethnic groups. The low frequency of the D allele in Pima Indians shows that ethnic differences should be accounted for when studying the ACE gene.     

Association of essential hypertension in elderly Japanese with I/D polymorphism of the angiotensin-converting enzyme (ACE) gene

Recent evidence suggests that an insertion/deletion (I/D) polymorphism of the gene encoding angiotensin-converting enzyme (ACE) is associated with myocardial infarction and related cardiovascular diseases. We investigated a possible association of the ACE polymorphism with essential hypertension in a total of 263 cases/controls from among the elderly (age, over 70 years) and middle-aged (age between 30 and 60 years) Japanese population. The frequency of the I/I homozygote was significantly higher in hypertensive subjects than in controls in the elderly age group (33/57 vs 16/46; P = 0.02), but no association was observed in the middle-aged group (25/75 vs 26/85; P = 0.71). Similarly, having at least one insertion allele was associated with essential hypertension in the elderly age group (83/114 vs 46/92 in controls; P = 0.001), but not in the middle-aged group (78/150 vs 94/170; P = 0.524). These data suggest that genetic variation at the ACE locus may be associated with some determinants for blood pressure in elderly persons, and imply the involvement of the ACE insertion/deletion polymorphism in the etiology of age-related essential hypertension in the Japanese population. Received: April 18, 2000 / Accepted: July 25, 2000     

PAI-1启动子区4G/5G基因多态性、ACE插入/缺失多态性与脑卒中的相关性

目的探讨纤溶酶原激活物抑制物-1(PAI-1)启动子区基因多态性和血管紧张素转换酶(ACE)插入/缺失多态性与脑卒中的关系。方法 PCR检测203例脑卒中患者和139名健康对照者PAI-1基因启动子区4G/5G多态性、ACE基因插入/缺失多态性,同时应用比色法测定血清ACE活性,发色底物法测定PAI-1活性。结果脑梗死(CI)组PAI-1活性(0.769±0.163 AU/mL)、ACE活性(43.42±14.36 U/L)明显高于对照组(0.652±0.116 AU/mL和31.28±8.64 U/L,P<0.01);CI组PAI-I基因4G纯合子、ACE D/I基因DD纯合子比例明显高于对照组(P<0.01);PAI-I基因4G/4G基因型与ACE基因D/D基因型对CI发病可相互协同作用(P<0.01)。结论 PAI-1基因4G/4G基因型和ACE基因D/D基因型均可能是CI发病的危险因素,且具有协同作用。     

血管紧张素转换酶基因I/D多态性与血脂水平及原发性高血压的相关性探讨

目的 探讨血管紧张素转换酶(ACE)基因I/D多态性与血脂水平及原发性高血压（EH）的关系,为EH的病因学研究提供依据。方法 采用聚合酶链反应（PCR）对开滦煤矿汉族人群ACE基因Alu I/D多态性进行基因型检测。用全自动生化分析仪测定血清总胆固醇（TC）、甘油三酯（TG）、高密度脂蛋白（HDL）、低密度脂蛋白（LDL）含量。结果 调查人群中,HDL水平,携带ACE基因II基因型者高于携带ID、DD基因型者; LDL水平, 携带ID、DD基因型者高于携带II基因型者。EH组与非EH组比较,ACE基因不同基因型原发性高血压患病率不同, 携带ID(19.88%)、DD(20.82%)基因型者患病率高于携带II(14.26%)基因型者(P<0.05); ACE等位基因频率在两组间分布有差异（P<0.05,P<0.01）;除HDL含量和携带ID、II基因型者LDL含量外,其余血脂指标EH组与NEH组相比,各项均有差异（P<0.05）。在NEH组,TC水平,携带II基因型者高于携带DD基因型者;LDL水平,携带ID、DD基因型者高于携带II基因型者。结论 ACE基因不同基因型EH患病率不同,ACE基因I/D多态性与TC、HDL、LDL等血脂水平有关。     

PAI-1启动子区4G/5G基因多态性、ACE插入/缺失多态性与脑卒中的相关性

目的 探讨纤溶酶原激活物抑制物-1(PAI-1)启动子区基因多态性和血管紧张素转换酶(ACE)插入/缺失多态性与脑卒中的关系.方法 PCR检测203例脑卒中患者和139名健康对照者PAI-1基因启动子区4G/5G多态性、ACE基因插入/缺失多态性,同时应用比色法测定血清ACE活性,发色底物法测定PAI-1活性.结果 脑...     

血管紧张素Ⅰ转换酶基因多态性与NIDDM并发高血压的相关性研究

目的：研究血管紧张素Ⅰ转换酶（ＡＣＥ）基因与非胰岛素依赖型糖尿病（ＮＩＤＤＭ）合并高血压的关系。方法：采用ＰＣＲ方法观察１５９例ＮＩＤＤＭ（包括７８例合并高血压病人的ＡＣＥ基因多态性。结果：ＡＣＥ基因多态性分析显示：ＮＩＤＤＤＭ合并高血压患者ＤＤ基因型明显高于合并高血压者（Ｐ＜０．０５）。结论：ＡＣＥ基因多态性可作为一种标志,提示ＤＤ基因型与ＮＩＤＭ合并高血压的发生有关,Ｉ型可能为保护性基因。     

I/D ACE gene polymorphism in survival of leukemia patients -- hypothesis and pilot study

Angiotensin-I converting enzyme (ACE) is involved not only in intracellular volume regulation but also in proliferation control. Since both ACE gene polymorphism (I/D ACE) and ABO blood group determine ACE level in peripheral blood and probably also in bone marrow, the hypothesis to the interindividual differences in survival of leukemic patients was suggested.The data of 25 patients of both sexes with acute myelogenous (AML), acute lymphatic (ALL), chronic myelogenous (CML) and chronic lymphatic (CLL) leukemia treated by conventional were used for the study.The overall survival (SUR) was estimated as the time from the date of diagnosis to the date of death. The difference between patient's individual SUR (iSUR) and median SUR according to the type of leukemia (mSUR) was calculated. This difference (iSUR-mSUR) varied with I/D ACE genotype (p<0.02) but neither with diagnosis nor with ABO blood group. The regression model for iSUR calculation, from mSUR and I/D ACE genotype, has been suggested.     

ACE、AGT基因联合多态性与高血压合并脑梗塞相关

目的探讨北京地区汉族人群血管紧张素转化酶(ACE)基因插入/缺失(I/D)多态性与血管紧张素原(AGT)基因CD235Met-Thr变异(M235T)与高血压合并脑梗塞发生的关系。方法分别用PCR法、突变基因分离聚合酶链反应(MS-PCR)法检测664例高血压合并脑梗塞患者(CI),678例单纯高血压患者(EH)和716例对照者(C)的ACE基因I/D多态性及AGT基因M235T多态性,分析两个基因多态性分布与高血压合并脑梗塞发病的相关性。结果 CI组ACE-DD和AGT-TT基因型频率(分别为0.309和0.643)均显著高于C组(分别为0.203和0.543,P<0.001)和EH组(分别为0.217和0.569,P<0.01)。CI组与C组比较,ACE-DD、AGT-TT联合基因型OR值(2.547,95%CI:1.919～3.382)明显高于ACE-DD单基因型(1.759,95%CI:1.376～2.248)和AGT-TT单基因型(1.515,95%CI:1.220～1.880)。结论 ACE-DD和AGT-TT基因型与北京地区汉族人群单纯高血压发病无相关性,但与高血压合并脑梗塞发病显著相关,并且A...     

Multilevel analysis of systolic blood pressure and ACE gene I/D polymorphism in 438 Swedish families – a public health perspective

Background  

Individuals belonging to the same family share a number of genetic as well as environmental circumstances that may condition a common SBP level. Among the genetic factors, the angiotensin converting enzyme (ACE) gene I/D polymorphism appears as a possible candidate as it might influence both SBP and the pharmacological effect of ACE inhibitors. We aimed to combine genetic epidemiology with public health ideas concerning life-course and multilevel epidemiology in order to understand the role of familial factors regarding individual SBP.     

Association of angiotensin-converting enzyme functional gene I/D polymorphism with amnestic mild cognitive impairment

The relationship between angiotensin-converting enzyme (ACE) gene insertion/deletion (I/D) polymorphism and serum ACE activity, as well as amnestic mild cognitive impairment (aMCI), was investigated. The study recruited 90 aMCI patients and 90 matched healthy controls. All subjects underwent an extensive assessment of cognitive function. The ACE gene I/D genotype was determined by polymerase chain reaction. Serum ACE activity was measured using a spectrophotometric technique. The scores obtained by the aMCI patients on the neuropsychological tests were significantly lower than those of the control subjects (all p < 0.01). The genotype (χ² = 11.510) and allele (χ² = 6.945) frequencies of the ACE gene were significantly different between the aMCI and the control groups (all p < 0.01). The DD genotype (23%) and D-allele (57%) frequencies in the aMCI patients were higher than those in the controls (16% vs. 43%). ACE genotype was correlated with delayed recall in Auditory Verbal Memory Test, delayed recall in Complex Figure Test, Category Fluency Test, and Symbol Digit Modalities Test in all subjects, in which the carriers of the DD and DI genotypes obtained lower scores than those of the II genotype (p < 0.05). A significant difference in the serum ACE level was observed among the three genotypes (DD > DI > II) in both the aMCI and the control groups (all p < 0.01). D-allele may be a genetic risk factor for the development of aMCI to Alzheimer's disease. A high serum ACE level possibly plays an important role in the incidence of aMCI.     

Association of angiotensin-converting enzyme functional gene I/D polymorphism with amnestic mild cognitive impairment

This study aimed to test the hypothesis that progesterone is neuroprotective against oxygen-glucose deprivation (OGD) through its conversion to the active metabolite allopregnanolone (AlloP) and the potentiation of GABA_A receptors. Organotypic hippocampal cultures were exposed to 2 h of OGD and the resulting cell death was quantified 24 h later using combined propidium iodide and Hoechst immunostaining. Initially, we confirmed, that both progesterone and AlloP were protective in terms of reducing cell death following OGD in hippocampal cultures and for both, the optimal level of protection was observed at a concentration of 0.1 μM. However, the protective effect of progesterone was absent in the presence of finasteride (10 μM) which inhibits the metabolism of progesterone to active metabolites, including AlloP. In addition, the concurrent application of picrotoxin (100 μM), a potent GABA_A receptor antagonist, prevented the protection previously seen by either progesterone or AlloP alone. These results indicate that progesterone protects hippocampal cultures from cell death following OGD largely due to its conversion to AlloP and that GABA_A receptors are important mediators of the protective effects of both progesterone and AlloP.     

Angiotensin-converting enzyme gene I/D polymorphism and renal disease

In recent years a vast amount of data has been published on the association between the insertion/deletion (I/D) polymorphism of the gene coding for angiotensin-converting enzyme and renal disease. It has become clear that the polymorphism does not affect the prevalence of renal disease. However, data on the association with progression of renal disease and therapy response are still contradictory. Moreover, sufficient data on the physiological significance of this polymorphism are still lacking. This contribution provides an overview of the available studies and the potential pitfalls in interpreting the data. We also discuss the putative mechanisms for the association between the DD genotype and progression of renal disease and suggest directions for the future that might be employed to further clarify the role in renal pathophysiology.     

脐血ACE基因多态性与胎膜早破的相关性研究

目的研究脐血血管紧张素转换酶(ACE)基因多态性与胎膜早破的相关性。方法收集2008年4月至2008年11月份在内蒙古妇幼保健院产科分娩的产妇脐带血,设胎膜早破组为实验组,正常足月分娩组为对照组,实验组94例,对照组118例,取脐静脉血3ml,经EDTA抗凝,分别提取基因组DNA,然后用ACE引物进行聚合酶链反应(PCR),对扩增产物进行电泳,测定ACE基因型,分别为DD、ID和II 3种基因型。数据统计分析应用SPSS13.0版统计软件进行统计学分析。结果实验组中ACE基因DD型和D等位基因分布频率明显高于对照组,与对照组比较,P<0.05差异显著。对照组ACE基因型以II型为主,与实验组比较,P<0.05差异显著。ID型在两组间分布频率比较P>0.05,差异无显著性。结论脐血ACE基因多态性与胎膜早破具有密切相关性。     

上海地区汉族人高血压脑卒中与肾素系基因多态性的关系

目的 探讨血管紧张素原（ａｎｇｉｏｔｅｎｓｉｎｏｇｅｍ,ＡＧＴ）和血管紧张素转换酶（ａｎｇｉｏｔｅｎｓｉｎ ｃｏｎｖｅｒｔｉｎｇ ｅｎｚｙｍｅ,ＡＣＥ）基因多态性与高血压性脑卒中的关系。方法 应用聚合酶链反应检测２５７例单纯高血压患者（ｅｓｓｅｎｔｉａｌ ｈｙｐｅｒｔｅｎｓｉｏｎ,ＥＨ）和２１８例高血压性脑卒中患者（其中１３１例出血性脑卒中,８７例制血性脑卒中ＡＧＴ基因Ｍ２３５Ｔ变异多态和ＡＣＥ基     

ACE I/D polymorphism is a risk factor of Alzheimer's disease but not of vascular dementia

Different studies have investigated the effect of the angiotensin converting enzyme (ACE) insertion/deletion (I/D) polymorphism on the risk of Alzheimer dementia (AD). However, results on the association of the ACE-I allele with AD have been inconclusive. A recent meta-analysis reported an association of the I-allele with the risk of AD. A few small studies also investigated the effect of ACE polymorphism on the risk of vascular dementia (VD). We have investigated the effect of ACE I/D polymorphism in 351 AD and 155 VD patients and 348 healthy controls. We found the I/I genotype to be associated with an increased risk of AD, but not with the risk of VD. Cell-specific effects of ACE polymorphism are suggested, additional studies on neuronal cells might help to understand the role of this polymorphism in AD.     

载脂蛋白E基因多态性与中国人阿尔茨海默病和颈动脉粥样硬化相关性研究

为了探讨中国散发性阿尔茨海默病（SAD)颈动脉粥样硬化（CAS）与ApoE基因多态性的关系,应用聚合酶链式反应－限制性片段长度多态性（PCR－RFLP）技术检测46名SAD患者、31名CAS患者及50名正常老年人的ApoE基因多态性分布特征。结果显示SAD组及CAS组ApoE ε4等位基因频率均高于对照组（P＜0．05）;SAD组为15．2％,CAS组为14．5％,对照组为3．0％,但CAS组ApoEε2等位基因频率明显高于SAD组（P＜0．05）;CAS组为41．9％,SAD组为21．7％本研究提示,ApoE4等位基因是SAD和CAS的共同危险因素,但ApoE2等位基因对CAS病人患AD具有保护作用。     

Association between ACE D allele and elite short distance swimming

The influence of ACE gene on athletic performance has been widely explored, and most of the published data refers to an I/D polymorphism leading to the presence (I allele) or absence (D allele) of a 287-bp sequence in intron 16, determining ACE activity in serum and tissues. A higher I allele frequency has been reported among elite endurance athletes, while the D allele was more frequent among those engaged in more power-orientated sports. However, on competitive swimming, the reproducibility of such associations is controversial. We thus compared the ACE genotype of elite swimmers with that of non-elite swimming cohort and of healthy control subjects. We thus sought an association of the ACE genotype of elite swimmers with their competitive distance. 39 Portuguese Olympic swimming candidates were classified as: short (<200 m) and middle (400–1,500 m) distance swimmers, respectively. A group of 32 non-elite swimmers were studied and classified as well, and a control group (n = 100) was selected from the Portuguese population. Chelex 100 was used for DNA extraction and genotype was determined by PCR-RFLP methods. We found that ACE genotype distribution and allelic frequency differs significantly by event distance only among elite swimmers (P ≤ 0.05). Moreover, the allelic frequency of the elite short distance swimmers differed significantly from that of the controls (P = 0.021). No associations were found between middle distance swimmers and controls. Our results seem to support an association between the D allele and elite short distance swimming.     

Association between Gly241Arg ICAM-1 gene polymorphism and serum sICAM-1 concentration in the Stanislas cohort

Intracellular adhesion molecule-1 (ICAM-1), a cellular adhesion molecule that mediates the interaction of activated endothelial cells with leukocytes, is involved in various inflammatory and cardiovascular disorders. The relation between these markers and genetic polymorphism, however, remains to be elucidated. The aim of this study is to estimate the effect of a single-base polymorphism at codon 241 in exon 4 of ICAM-1 gene on serum sICAM-1 concentration in a healthy population, taking into account other biological determinants of sICAM-1 level. Serum sICAM-1 levels and the G/R241 polymorphism of the ICAM-1 gene were measured in a large healthy population consisting of 413 children aged 6-21 years and 363 adults aged 38-55 years extracted from the Stanislas cohort. The R241 allele was significantly associated with lower sICAM-1 levels and explained 3.4 and 1.9% of the sICAM-1 variability in children and adults, respectively. A codominant pattern contributed better to the model after adjustment for covariates as the RR homozygote effect was higher than that of the GR heterozygote. Moreover, significant independent associations were found between sICAM-1 and smoking, insulin resistance index (HOMA IR), interleukin-6 level, and alkaline phosphatase and aspartate aminotransferase activities. In conclusion, this study revealed a significant association between the G/R241 ICAM-1 polymorphism and serum sICAM-1 levels, probably due to the impairment in binding of ICAM-1 to leukocyte integrin Mac-1 protein.