血管紧张素转换酶基因多态性与哮喘

血管紧张素转换酶 (angiotensin converting enzyme,ACE)高度表达于肺 ,能使某些哮喘的炎性介质如缓激肽、速激肽及 P物质失活 ;使血管紧张素 (AT- )转换为血管紧张素 (AT- ) ,AT- 与气道平滑肌作用参与哮喘的发病。90年代初 ,人类 ACE基因结构得以阐明 ,并发现插入 /缺失(insertion/ deletion,I/ D)多态性与血浆及细胞内 ACE水平有关。近年来 ,随着分子遗传学等研究手段的深入 ,ACE基因多态性及其与哮喘的易感性和严重性的相关性研究成为新的研究热点。探讨两者关系为从分子水平深入了解哮喘的发病机理提供新资料 ,对正确判…     

妊娠高血压综合征患者血管紧张素转换酶基因多态性研究

目的探讨血管紧张素转换酶（ACE）基因插入／缺失多态性与妊娠高血压综合征（PIH）的关系。方法应用聚合酶链反应（PCR）检测92例PIH患者及85名正常妊娠者的ACE基因多态性。结果PIH组ACE基因3种基因型频率分别为DD型44．6％、ID型33．7％、Ⅱ型21．7％,对照组ACE基因3种基因型频率分别为DD型18．8％、ID型40．0％、Ⅱ型41．2％;两组的DD基因型及D等位基因频率比较差异有显著性（P〈0．05）。结论ACE基因的缺失多态性（DD）可能为妊高征发病的重要遗传因素之一。     

新疆维吾尔族人群血管紧张素转换酶基因多态性分析

目的研究新疆维吾尔族人群血管紧张素转换酶(ACE)基因插入/缺失多态性分布情况。方法采用PCR技术,对新疆地区维吾尔族健康人群和汉族人作ACE I/D基因型检测,分类计数进行统计学分析。结果维吾尔族人群ACE基因频率DD型,D I型和D等位基因频率高于本地区汉族人群,种族内ACE基因多态性的分布与性别无关。结论维吾尔族人群ACE基因I/D多态性与本地区汉族人群和日本人群不同,与欧美人群相近。     

妊娠高血压综合征患者血管紧张素转换酶基因多态性研究

目的探讨血管紧张素转换酶(ACE)基因插入/缺失多态性与妊娠高血压综合征(PIH)的关系。方法应用聚合酶链反应(PCR)检测92例PIH患者及85名正常妊娠者的ACE基因多态性。结果PIH组ACE基因3种基因型频率分别为DD型44.6%、ID型33.7%、Ⅱ型21.7%,对照组ACE基因3种基因型频率分别为DD型18.8%、ID型40.0%、Ⅱ型41.2%;两组的DD基因型及D等位基因频率比较差异有显著性(P<0.05)。结论ACE基因的缺失多态性(DD)可能为妊高征发病的重要遗传因素之一。     

温州地区汉族人群血管紧张素转换酶(ACE)基因多态性分析

目的研究温州地区汉族人群血管紧张素转换酶（ACE）基因插入/缺失多态性分布情况.方法采用聚合酶链反应（PCR）分别检测204例温州地区汉族正常人群样本的ACE I/D基因型,分类计数进行统计学分析.结果温州地区汉族正常人的ACE基因三种基因型频率分别为：DD型13.73%,DI型41.18%,Ⅱ型45.09%.D和I等位基因频率分别为34.5%和65.5%.结论 ACE基因多态性的分布与性别无关,温州地区汉族人群ACE基因频率分布与日本人相近,但DD型及D等位基因频率低于欧美人群.     

血管紧张素转换酶基因多态性在脑血管病中作用及机制的初步研究

目的：探讨血管紧张素转换酶（ACE）基因多态性与脑梗死，高血压脑出血的关系。方法：应用PCR方法检测60例脑梗死患者，33例高血压性脑出血患者和62例健康才的ACE基因的缺失／插入多态性。结果：高血压性脑出血的DD基因型和D等位基因频率明显高于正常对照组，脑梗死组DD基因型和D等位基因频率与正常对照组比较有显著差异；尤其伴高血压的脑梗死患者，这种趋势更为明显。结论：ACE基因多态性和高血压脑血管病患者有关联性。DD基因型可能是伴高血压脑梗死，脑出血的易患因素。     

血管紧张素转换酶基因多态性与急性呼吸窘迫综合征

急性呼吸窘迫综合征(ARDS)是ICU患者高病死率的主要原因，文献对该病起始和预后的预测因素报道较少。最近研究发现人类血管紧张素转换酶(ACE)基因含有多态性。其插入／缺失(I／D)状态能增强／减弱血浆和组织中的ACE活性。在ARDS中不但D等位基因频率高，DD-ACE基因型频率亦高，并且它们与ARDS的死亡率有明显关系。确认这种多态性能帮助我们理解ARDS的发病机制，鉴定易感人群和治疗靶点。     

原发性高血压与血管紧张素转换酶基因多态性的相关性研究

血管紧张素转换酶作为肾素－血管紧张素系统的一个关键酶,可能参与高血压的发病,ＡＣＥ水平由遗传决定,有三种基因型：纯合子Ⅱ、ＤＯ型和杂合子ＩＤ型。本研究探讨ＡＣＥ基因多态性与原发性高血压压的关系。研究人群为１０４例ＥＨ患者及１１３例正常人。     

血管紧张素Ⅰ转换酶基因多态性与冠心病的关系

为了探讨血管紧张素Ⅰ转换酶（ＡＣＥ）基因第１６内含子插入／缺失（Ｉ／Ｄ）多态性与冠心病（ＣＡＤ）的关系，应用聚合酶链反应测定了７９例冠心病（ＣＡＤ）及６８名正常人ＡＣＥ基因第１６内含子Ｉ／Ｄ多态性。结果显示，ＣＡＤ病人ＡＣＥ基因Ｉ型、ＩＤ型和ＤＤ型频率分别为２８％（２２／７９）、２９％（２３／７９）和４３％（３４／７９），而正常人则分别为４１％（２８／６８）、３２％（２２／６８）和２６％（１８／６８）。两组的ＤＤ基因型及Ｄ等位基因型均差异显著（Ｐ＜０．０５）。提示ＤＤ基因型可能为ＣＡＤ发生的危险因素之一     

老年高血压人群血管紧张素转换酶基因多态性与颈动脉硬化相关性探讨

目的　探讨血管紧张素转换酶 (ACE)基因多态性与老年高血压人群颈动脉粥样硬化的相关性。方法　运用聚合酶链反应 (PCR)技术检测 12 6例老年高血压患者 (高血压组 )及 72例正常老年人 (对照组 )的ACE基因多态性 ,根据PCR检测结果 ,将高血压组分为DD型 (34例 )、Ⅱ型 (4 2例 )及ID型 (5 0例 ) 3个亚组 ,用高分辨超声技术分别检测 3个亚组对象的平均颈动脉内 中膜厚度 (MIMT)、Crouse积分和颈动脉粥样斑块。结果　高血压组ACE基因型及等位基因频率与对照组比较差异无统计学意义 ,3个亚组比较 ,DD型亚组的MIMT、斑块发生率和Crouse积分均较Ⅱ型亚组增高 [(0 .95± 0 .15 )mmvs (0 .85± 0 .11)mm ,82 .35 %vs 5 7.14 % ,均P <0 .0 5和 (7.13± 6 .6 4 )mmvs(2 .6 3± 2 .4 0 )mm ,P <0 .0 1]。结论　ACE基因多态性与老年高血压不相关 ,在高血压人群中 ,ACE基因缺失型具有颈动脉硬化易感性 ,可能是高血压血管损害的遗传学基础之一     

血管紧张素转换酶基因多态性与高血压的关系及其对高血压护理的启示

ACE基因多态性是研究较为全面的高血压候选基因,与种族、性别、年龄等易感因素和肥胖、高盐饮食、吸烟等危险因素有关。总结血管紧张素转换酶基因多态性与高血压关系的研究,结合个体基因多态性可提高高血压风险评估的精确性,并为病人提供个体化的健康教育。     

肝肾综合征与血管紧张素转换酶基因多态性的关系

目的 探讨失代偿性肝硬化并发肝肾综合征(HRS)与血管紧张素转换酶(ACF)基因插入/缺失(I/D)多态性之间的关系。方法 应用聚合酶链反应方法扩增76例失代偿性肝硬化并HRS患者及各对照组患者的ACE基因上的DNA片段,根据I/D来判断其多态性,同时各例均采血测谷丙转氨酶、谷草转氨酶、血清肌酐(SCr)及尿素氮(BUN)等指标,并测肾小球滤过率(GFR),比较不同基因型间这些指标的差异有无显著意义。结果 HRS患者各基因型及等位基因频率与各对照组间差异均无显著意义(P均>0.05);除其他肝病组外,各组Ⅰ等位基因频率均显著高于D等位基因频率(P均<0.01),而各对照组中,3种基因型频率间差异无显著意义(P>0.05),HRS组中,Ⅱ基因型频率显著高于ID及DD型(P<0.05)。Ⅱ基因型的BUN与SCr均显著高于ID型及DD型(P均<0.05),GFR显著低于ID型及DD型(P<0.05)。结论 ACE基因Ⅱ型可能为失代偿性肝硬化易并发HRS的遗传学方面因素。     

血管紧张素I转换酶基因多态性与脑卒中关系

目的　探讨血管紧张素I转换酶 (ACE)基因多态性与脑卒中关系。方法　应用聚合酶链反应 (PCR)检测了92例脑卒中患者和 15 8例正常人的ACE基因型 ,并用Logistic回归筛选脑卒中的危险因素。结果　①脑卒中患者的甘油三脂 (TG)、高密度脂蛋白 (HDL)、总胆固醇 (TC)和载脂蛋白 (ApoAI、ApoB)水平与正常人相比 ,均无显著性差异 (P均 >0 .0 5 )。②ACE各基因型在不同性别、年龄间的分布以及在TG、HDL和ApoAI、ApoB等生化指标方面均未有显著性差异 (P均 >0 .0 5 )。③脑卒中患者DD基因型的频率 (2 8.2 6 % )显著高于正常对照组 (15 .19% ) (P <0 .0 5 )。结论　①ACE基因型与引起脑卒中的其他危险因素 :TG、HDL和ApoAI、ApoB等无关。②ACE基因DD型、年龄是脑卒中的重要危险因素。     

肝肾综合征与肝性脑病的关系研究

目的分析慢性重型肝炎伴肝肾综合征(HRS)患者的血氨水平及肝性脑病(HE)发生率,探讨HRS与HE的关系。方法纳入我院2008年1月至2010年10月因慢性重型肝炎住院患者450例,根据患者在住院期间是否发生HRS,分成HRS组(病理组,105例)和非HRS组(病理对照组345例),测定两组的生化指标和血氨,并统计两组HE发生率和分级。结果 HRS组血氨水平为78.4±25.6μmol/L,高于非HRS组的48.3±18.7μmol/L(t=2.68,P<0.05)。HRS组中有47例发生HE(分级为HEI12例、HEII16例、HEIII10例、HE IV9例),发生率为44.7%,高于非HRS组的34例(HEI 13例、HEII 9例、HEIII 8例、HEIV 4例),发病率为9.8%(χ2=64.45,P<0.05)。HRS组MELD、TB、DB、BU、CREA的水平分别为34.7±4.5、431.1±211.9μmol/L、319.2±157.3μmol/L、19.2±6.6mmol/L、258.2±115.1μmol/L,高于非HRS组的26.3±6.8、249.2±205.3μmol/L、180.1±140.3μmol/L、4.0±1.2mmol/L、75.4±18.1μmol/L(t值分别为2.45、3.75、3.65、11.47、7.86、1.51,P<0.05);GGT、ALP、K结果差异无统计学意义(P>0.05)。结论慢性重型肝炎患者并发HRS加重血氨水平升高,促进HE的发生和发展。     

Polymorphisms in the neurokinin-2 receptor gene are associated with angiotensin-converting enzyme inhibitor-induced cough

Background and objective:  Treatment with angiotensin-converting enzyme (ACE) inhibitors can induce chronic cough in many patients. Genetic variations in the neurokinin 2 receptor gene (NK2R) are significantly associated with cough sensitivity to capsaicin.
Methods:  This study assessed the relationship between genetic polymorphisms in the NK2R gene and chronic cough in 91 patients taking ACE inhibitors. Patients included in the study did not have chest abnormalities, postnasal drip, gastroesophageal reflux or a recent history of upper respiratory infection.
Results:  We detected two single nucleotide polymorphisms in the NK2R gene (i.e., Gly231Glu and Arg375His). The allelic frequencies at amino acid 231 were 36·3% for Gly/Gly, 49·5% for Gly/Glu and 14·3% for Glu/Glu. The allelic frequencies at amino acid 375 were 74·7% for Arg/Arg, 24·2% for Arg/His and 1·1% for His/His. The prevalence of chronic cough in patients with the amino acid 231 genotype was 33·3% in Gly/Gly homozygotes, 24·4% in Gly/Glu heterozygotes and 0% in Glu/Glu homozygotes. There was a statistically significant association between chronic cough and the Glu/Glu allele ( P  = 0·028) when the data were analyzed with a recessive model. In addition, there was a significant inverse linear association between the number of Glu231 alleles and ACE inhibitor-related cough ( P  =   0·026). The prevalence of chronic cough in patients with the amino acid 375 genotype was 22·1% in Arg/Arg homozygotes, 31·8% in Arg/His heterozygotes and 0% in His/His homozygotes, although none of these association were statistically significant.
Conclusion:  Our findings indicate that the Gly231Glu polymorphism is associated with a lower prevalence of ACE inhibitor-related cough.     

Frequency of angiotensin-converting enzyme gene polymorphism in Turkish hypertensive patients

Hypertension is a multifactorial disease, in which genetic factors play an important role. This study was carried out to determine angiotensin-converting enzyme levels and angiotensin-converting enzyme gene polymorphism in Turkish hypertensive patients, and to establish whether there is an association of angiotensin-converting enzyme gene polymorphism with clinical and echocardiographic parameters. We have investigated the association among the allelic distribution of the insertion/deletion (I/D) polymorphism of the angiotensin-converting enzyme gene identified by polymerase chain reaction, angiotensin-converting enzyme activity determined spectrophotometrically, cardiac morphology and function assessed by means of echocardiography. Distribution of angiotensin-converting enzyme gene I/D polymorphism and allele frequencies in hypertensive patients was not significantly different from controls. D allele frequency was 51.7% in hypertensives vs. 51.9% in controls and I allele 48.3 vs. 48.1%, respectively. The level of angiotensin-converting enzyme activity was significantly higher in the patients homozygotes for D allele (DD = 59.93 U/l) than in heterozygotes (ID = 39.49) and in homozygotes for I allele (II = 40.28 U/l). In addition to these, the level of angiotensin-converting enzyme activity was significantly lower in the ID and especially II patients receiving ACE inhibitors than the others. Also, it was determined that left atrium diameter was larger in the patients homozygotes for I allele than the others.     

中国人脑梗死ACE基因插入/缺失多态性的Meta-分析

目的：对中国人血管紧张素I转换酶（ACE）基因内含子16插入型（I）／缺失型（D）多态性与脑梗死的关联性进行Meta-分析。方法：以脑梗死组和非脑梗死对照组基因型分布的OR值为统计量。全面检索到相关文献,排除发表偏倚的影响,剔除不符合要求的文献,应用REVMAN3．1软件对各研究结果进行一致性检验和采用相应的数学模型进行数据合并。结果：相关文献未发现显著发表偏倚,数据合并结果未考虑原发病的脑梗死和继发于原发性高血压的脑梗死患者DD／（ID＋Ⅱ）OR有显著统计意义,继发于Ⅱ型糖尿病的脑梗死DD／（ID＋Ⅱ）OR无显著性。结论：中国人ACE／ID多态性中DD基因型与非糖尿病性脑梗死有关联,病例组DD基因型增多。     

Frequency of angiotensin-converting enzyme gene polymorphism in Turkish type 2 diabetic patients

We aimed to investigate the angiotensin-converting enzyme (ACE) gene polymorphism, ACE activity and their associations with diabetic complications in Turkish patients with type 2 diabetes mellitus. A total of 143 patients and 133 controls were screened for ACE gene I/D polymorphism by using polymerase chain reaction. Serum ACE activities were determined spectrophotometrically. There was no significant difference in the distribution of ACE I/D genotypes between patients and controls. The patients with DD genotype had a higher ACE activity than those with ID and II. Hypertensive diabetic patients with DD genotype had higher ACE activities than those with ID and II. There was no significant difference in the distribution of ACE I/D genotypes between patients with and without nephropathy, retinopathy and hypertension except for patients with and without neuropathy. In patients with DD genotype, creatinine clearance correlated with duration of diabetes. The grade of retinopathy was correlated with duration of diabetes in DD and ID genotypes. The highest ACE activity was measured in hypertensive diabetics with DD genotype. ID genotype was suggested to be a risk factor and II was suggested to be protective for diabetic neuropathy. The DD and ID genotypes might be a predictor for the development of retinopathy in relation to duration of diabetes.     

肝肾综合征的诊治现状

肝肾综合征（HRS）是晚期肝硬化患者的极危重并发症,患者肾脏无明显器质性病变,是以肾功能损伤、血流动力学改变和内源性血管物质异常为特征的一种综合征。HRS显著增加肝硬化患者病死率。其早期诊断和及时治疗对降低病死率、改善预后至关重要。目前,HRS的诊断主要以血肌酐标准为主。肝移植仍是解决HRS最根本的治疗手段。未来仍需对HRS的基础与临床方面努力专研,以求突破。