Association between angiotensin I-converting enzyme gene insertion/deletion polymorphism and mitral valve prolapse syndrome

Background Some studies have reported that patients with mitral valve prolapse syndrome (MVPS) also have a disorder in the autonomic or neuroendocrine function, which can cause a host of related symptoms. A potential role of the renin-angiotensin system in the pathogenesis of MVPS has been addressed. However, the role of angiotensin I-converting enzyme (ACE) genetic variant in MVPS has not been studied. We therefore performed a case-control study investigating the possible relation between ACE gene polymorphisms and MVPS in Taiwan Chinese.Methods We studied 100 patients with MVPS diagnosed by echocardiography and 100 age- and sex-matched normal control patients. ACE gene insertion/deletion (I/D), A-240T, and G2350A polymorphisms were identified by polymerase chain reaction-based restriction analysis.Results There was a significant difference in the distribution of ACE I/D genotypes (P = .003) and allelic frequencies (P = .001) between MVPS cases and control patients. An odds ratio for the risk of MVPS associated with the ACE II genotype was 2.14 (95% CI 1.20-3.80 ). An odds ratio for the risk of MVPS associated with ACE I allele was 1.96 (95% CI 1.30-2.97). The A-240T and G2350A polymorphisms of the ACE gene showed no association with MVPS (P = .20, P = .13, respectively).Conclusions This study showed that patients with MVPS have a higher frequency of ACE II genotype, which supports a role of the ACE I/D gene polymorphism in determining the risk of MVPS among the Chinese population in Taiwan. (Am Heart J 2003;145:169-73.)     

原发性二尖瓣脱垂综合征与血管紧张素转换酶基因I/D多态性的相关性

目的 :探讨原发性二尖瓣脱垂综合征 (MVPS)与人类血管紧张素Ⅰ转换酶 (ACE)基因I/D多态性的相关性。方法 :研究 5 0例与对照组相匹配的经超声心动图诊断为MVPS患者 ,并分为轻、重度两亚组 ,重度MVPS患者经手术、病理及电镜检查 ;用多聚酶链反应技术检测MVPS患者与ACE基因I/D多态性的相关性。结果 :重度MVPS患者手术、病理及电镜检查均证实为原发性二尖瓣黏液样变性 ,胶原、弹力纤维溶解或离断。且重度MVPS患者其I等位基因频率 (0 .6 8)明显高于对照组 (0 .5 4 ) ,P <0 .0 5 ;轻度MVPS患者其Ⅰ等位基因频率 (0 .6 0 )高于对照组 (0 .5 4 ) ,但P >0 .0 5。结论 :MVPS患者尤其是重度MVPS患者显示典型的二尖瓣黏液样变性 ,且与ACE基因I/D多态性有显著相关 ,存在有ACE基因I等位基因的异常表达。而轻度MVPS患者与ACE基因I/D多态性无显著相关 ,建议长期随访     

Reduction of pneumonia risk by an angiotensin I-converting enzyme inhibitor in elderly Japanese inpatients according to insertion/deletion polymorphism of the angiotensin I-converting enzyme gene

BACKGROUND: We have reported that use of angiotensin I-converting enzyme (ACE) inhibitor, which is a class of antihypertensive agent that induces cough, is an independent factor in reducing risk of pneumonia among elderly inpatients. Insertion/deletion (I/D) polymorphism of the ACE gene (ACE) has been associated with the risk of pneumonia in elderly individuals. However, the ability of ACE inhibitors to reduce pneumonia-related morbidity in individuals with the ACE polymorphism is unclear. Therefore we determined the association of ACE inhibitor use and ACE genotypes with reduction of pneumonia risk in the Japanese elderly population. METHODS: We conducted a hospital-based, retrospective, case-control study to evaluate the effect of an ACE inhibitor and ACE polymorphism on incidence of pneumonia. Case subjects were pneumonia patients (N = 105) >or=65 years of age, during an 8-month period of a nonwinter season. Control subjects (n = 420) were elderly patients who were frequency matched to the case subjects by age (within +/- 2 years) and gender. Data were collected on medication with the ACE inhibitor temocapril and on known risk factors for pneumonia. The significances of differences for the risk factors were analyzed using univariate and multivariate comparisons of the case and control subjects. RESULTS: After adjustment for potential confounders by multiple logistic regression analysis, the odds ratio (OR) estimates for pneumonia were 0.458 (95% confidential interval [CI]: 0.230 to 0.909, P = .026) for ACE inhibitor use. Conditional logistic regression analysis according to ACE genotypes revealed significant reduction of pneumonia risk by use of temocapril compared with that in nonhypertensive individuals (ie, the reference group) in those with ACE ID + II (OR: 0. 416, 95% CI: 0.177 to 0.976, P = .044), but not in those with ACE DD (OR: 0.706, 95% CI: 0.198 to 2.518, P = .592). CONCLUSION: These results suggest that use of an ACE inhibitor is beneficial for reducing risk of pneumonia, particularly in individuals with the ACE genotypes ID + II.     

Meta-analysis of association of insertion/deletion polymorphism of angiotensin I-converting enzyme gene with diabetic nephropathy and retinopathy

Summary An insertion/deletion (I/D) polymorphism in the angiotensin-converting enzyme (ACE) gene has repeatedly been shown to be associated with ischaemic heart disease, but the association of this genetic marker with diabetic microangiopathy is controversial. To assess the association of the genotypes with the development of diabetic nephropathy or retinopathy, we performed a meta-analysis of data from the literature, using Mantel-Haenszel method followed by the Breslow-Day test for assessing homogeneity among data. In a total of 4773 diabetic patients from 18 studies with (n = 2495) and without (n = 2278) renal complications, the D allele was significantly associated with diabetic nephropathy (p < 0.0001) in a dominant model (summary odds ratio 1.32, 95 % confidence interval: 1.15 to 1.51). There was no significant evidence against homogeneity of the odds ratios (χ ² = 18.9, 20 df; p = 0.53). The association was significant both in non-insulin-dependent (p < 0.005) and in insulin-dependent diabetes mellitus (p < 0.05). Likewise, in a total of 2010 diabetic patients with (n = 1008) and without (n = 1002) retinopathy, there was no association of the I/D polymorphism with diabetic retinopathy. These data suggest that the ACE I/D polymorphism affects the risk for diabetic nephropathy, but not for diabetic retinopathy. [Diabetologia (1998) 41: 47–53] Received: 30 April 1997 and in revised form: 31 July 1997     

Relationship between insertion/deletion polymorphism of angiotensin converting enzyme gene and type 2 diabetic kidney disease

<正>Objective To explore the interaction of angiotensin converting enzyme (ACE) insertion/deletion(I/D) polymorphism (rs1799752) with diabetic kidney disease(DKD) development as well as its interaction with smoking and obesity in Chinese type 2 diabetic mellitus     

Aortic atherosclerosis in diabetes mellitus is associated with an insertion/deletion polymorphism in the angiotensin I-converting enzyme gene

Summary An insertion(I)/deletion(D) polymorphism in the angiotensin I-converting enzyme (ACE) gene seems to be associated with clinical heart disease in patients with diabetes mellitus. It is not known whether increased atherosclerosis or other factors among individuals with certain ACE-gene subtypes form the basis for the increased prevalence of heart disease among these subjects. We measured, at autopsy, the extent of macroscopically visible aortic atherosclerosis in 22 diabetic and 39 non-diabetic subjects and determined the ACE-genotype of all individuals by the polymerase chain reaction. The percentage of aortic surface area covered with atherosclerotic lesions was 29±8 (n=6), 71±7 (n=9), and 65±7 (n=5) in the II-, ID-, and DD-genotype subgroups, respectively, among diabetes patients (mean ± SEM) (2 p<0.01, when comparing values from the ID and DD groups to the II group). The values were 37±9 (n=11), 40±5 (n=14) and 37±6 (n=11) in the II-, ID-, and DD-genotypes in the non-diabetic group. There were no differences in sex ratio or age in any of the ACE-gene subtypes. The previously described relationship between heart disease and the ACE-gene polymorphism in diabetes could thus be founded in an increased extent of atherosclerosis among patients with the ID- and DD-ACE-gene subtypes. Patients with diabetes have several alterations in the composition of the collagenous components in the arterial wall. We also analysed for associations between total collagen and type IV and type V collagen content in the aortic vessel wall and the ACE-gene subtypes. We were, however, not able to disclose correlations between the polymorphism and any of these parameters. In conclusion, our data show an association between the ACE-I/D polymorphism and the degree of aortic atherosclerosis in diabetes; however, we did not observe correlations between the polymorphism and data concerning arterial collagenous components.Abbreviations ACE Angiotensin converting enzyme - PCR polymerase chain reaction - IDDM insulin-dependent diabetes mellitus - NIDDM non-insulin-dependent diabetes mellitus     

Association between systemic lupus erythematosus and insertion/deletion polymorphism of the angiotensin converting enzyme (ACE) gene.

OBJECTIVE: ACE takes part in the renin-angiotensin and kallikrein-kininogen systems by creating angiotensin-II and inactivating bradykinin. ACE gene insertion/deletion polymorphism is associated with the level of circulating enzymes--subjects with the DD genotype have higher levels of circulating ACE than subjects with the II genotype and show an increased tendency towards impaired vascular function and structure. Patients with systemic lupus erythematosus (SLE) suffer from differentially expressed vascular pathology. We attempted to determine whether the type of ACE polymorphism could contribute to this pathology. METHODS: 101 SLE patients fulfilling the ACR criteria were investigated. The I/D polymorphism was ascertained by PCR, followed by electrophoresis of the amplified fragments and UV visualization. RESULTS: The frequency of the D allele was higher in the SLE group (0.623) than in the controls (0.520) (chi 2 test, p < 0.025). The distribution of the ACE genotype in SLE group was different from that in the control group (p < 0.05). An association between the DD genotype and visceral damage (p < 0.006) was observed. CONCLUSION: Our results suggest that in the multifactorially determined vascular pathology of SLE, changes associated with I/D polymorphism could influence vessel wall inflammation (monocyte adhesion and activation with cytokine release, T-lymphocyte metabolism), a tendency towards vascular impairment (neointimal proliferation, vasospasm, platelet activation, myocyte proliferation) and lead to the subsequent ischemia. The ACE gene could serve as the visceral damage indicator in SLE.     

血管紧张素转化酶基因多态性与内皮功能的研究

目的 :探讨血管紧张素转化酶 （ACE）基因多态性与冠心病血管内皮功能的关系。方法 :采用多聚酶链反应（PCR）技术对 2 4例心肌梗死、5 6例心绞痛患者、6 5例正常人的 ACE基因型及血浆内皮素 （ET）、内皮源性舒张因子 （EDRF）进行了检测 ,以 ET/ NO作为内皮功能指标。结果 :心肌梗死组 D等位基因频率显著高于正常对照组 ,DD型患者中的 ET/ NO比值较 型明显升高 （P<0 .0 5 ）。结论 :DD型心肌梗死患者内皮功能受损较重。     

Neutral endopeptidase and angiotensin I converting enzyme insertion/deletion gene polymorphism in humans

Neutral endopeptidase (NEP) hydrolyses angiotensins (Ang) I and II and generates angiotensin-(1-7) [Ang-(1-7)]. In humans, the insertion/deletion (I/D) angiotensin-I converting enzyme (ACE) gene polymorphism determined plasma ACE levels by 40%. In rats, a similar polymorphism determines ACE levels which are inversely associated to NEP activity. The objective of this study is to evaluate the relationship between ACE expression and plasma NEP activity in normotensive subjects and in hypertensive patients. In total, 58 consecutive patients with hypertension, evaluated in our Hypertension Clinic, were compared according to their ACE I/D genotypes with 54 control subjects in terms of both plasma ACE activity and NEP activities. Plasma ACE activity was elevated 51 and 70% in both DD ACE groups (normotensives and hypertensives) compared with their respective ID and II ACE groups (P<0.001). A significant effect of the ACE polymorphism and of the hypertensive status on ACE activity was observed (P<0.001). In normotensive DD ACE subjects, NEP activity was 0.30+/-0.02 U/ml, whereas in the normotensive II ACE and in the normotensive ID ACE subjects NEP activity was increased 65 and 48%, respectively (P<0.001). In the hypertensive DD ACE patients, NEP activity was 0.47+/-0.03 U/mg. An effect of the I/D ACE genotypes on NEP activity (P<0.04) and an interaction effect between the I/D ACE genotype and the hypertensive status were also observed (P<0.001). These results are consistent with a normal and inverse relationship between the ACE polymorphism and NEP activity in normotensive humans (as is also observed in rats). This normal relationship is not observed in hypertensive patients.     

原发性高血压代谢综合征与血管紧张素转换酶基因插入/缺失多态性关系的探讨

目的 :探讨原发性高血压 (EH)代谢综合征与血管紧张素转换酶 (ACE)基因插入 /缺失多态性的关系。方法 :选取EH患者 2 0 2例 ,其中男 116例 ,女 86例 ,年龄 30～ 72 (5 9.5 4± 9.2 6 )岁。符合代谢综合征者 10 6例 ,非代谢综合征 96例。应用聚合酶链反应 (PCR)测定两组ACE基因插入 /缺失多态性。结果 :EH代谢综合征组与非代谢综合征组ACE基因DD、ID、II基因型间无显著相关性 (χ2 =2 .5 4 5 ,P 0 .0 5 )。代谢综合征组ACE多态性基因型与腰围、高密度脂蛋白胆固醇 (HDL C)密切相关 (P <0 .0 1) ;与腰围 /臀围、三酰甘油 (TG)密切相关 (P <0 .0 5 ) ;与血压、血糖、胰岛素无关 (P 0 .0 5 )。代谢综合征组ACE基因DD、ID基因型腰围较II基因型显著增加 (P <0 .0 1,<0 .0 5 ) ;DD基因型腰围 /臀围、TG较II基因型显著增加 (P <0 .0 5 ) ;ACE基因DD基因型HDL C较II基因型显著降低 (P <0 .0 5 ) ;ACE基因DD、ID、II基因型间血压、血糖、胰岛素差异无统计学意义 (P 0 .0 5 )。结论 :EH代谢综合征与ACE基因多态性无显著相关性。但是代谢综合征患者肥胖、脂代谢紊乱与ACE基因多态性密切相关 ,而血压水平、胰岛素敏感性却与ACE基因多态性无关。     

Insertion/deletion polymorphism of the angiotensin I-converting enzyme gene and arterial oxygen saturation at high altitude

There is a significant genetic influence on arterial oxygen saturation (Sa(O(2))) in high-altitude (HA) residents. It is not known whether this is true of lowlanders ascending to HA. The I allele of the angiotensin-converting enzyme (ACE) gene is associated with low ACE activity and elite endurance performance. An excess of the I allele has also been reported in South American natives living over 3,000 m and among elite HA mountaineers who demonstrate extreme endurance in a hypoxic environment, where maintenance of Sa(O(2)) is crucial to performance. We postulated that the I allele may confer an advantage at HA through genotype-dependent alterations in Sa(O(2)). Rapid ascent (n = 32) and slow ascent groups (n = 40), ascending to approximately 5,000 m over 12.0 and 18.5 days, respectively, had their Sa(O(2)) assessed throughout and compared with their ACE genotype. Resting Sa(O(2)) was independent of the ACE genotype and remained so for the slow ascent group, in whom the fall in Sa(O(2)) with ascent was genotype independent. However, Sa(O(2)) with ascent was significantly associated with the ACE genotype in the rapid ascent group (p = 0.01) with a relatively sustained Sa(O(2)) in the II subjects. These data are the first to report an association of the I allele with the maintenance of Sa(O(2)) at HA.     

血管紧张素转换酶基因插入缺失多态性与原发性高血压患者合并心房颤动的相关性研究

目的探讨中国河南豫北地区汉族原发性高血压人群血管紧张素转换酶(ACE)基因插入(I)/缺失(D)多态性与心房颤动(房颤)的关系。方法采用病例对照法,选择原发性高血压患者803例,分为房颤组405例和窦性心律组398例,采用PCR-RFLP方法进行ACE基因I/D多态性分析。结果房颤组DD基因型频率明显高于窦性心律组(25.9%vs 13.1%),ID基因型频率明显低于窦性心律组(38.8%vs 50.3%,P<0.05)。与携带II+ID基因型者比较,携带DD基因型高血压患者房颤的风险增加(OR=2.13,95%CI:1.60³.29,P<0.05),携带DD基因型的高血压合并房颤患者左心房内径明显扩大,LVEF明显降低(P<0.05)。结论 ACE基因I/D多态性与原发性高血压患者房颤的发生存在相关性,DD基因型可能使高血压患者发生房颤的危险增加。     

Relation between the insertion/deletion polymorphism of the angiotensin I converting enzyme gene and restenosis after coronary stenting

BACKGROUND: Observations with intravascular ultrasound demonstrated that neointimal hyperplasia is the predominant factor responsible for in-stent restenosis. Experimental data suggest that angiotensin I converting enzyme (ACE) plays a role in the thickening of neointima after balloon denudation. Insertion/deletion (I/D) polymorphism of the ACE gene is significantly associated with plasma level of ACE and subjects with D/D genotype have significantly higher plasma levels of ACE than normal. OBJECTIVE: To investigate whether this polymorphism influences the risk of restenosis after coronary stenting. METHODS: We genotyped 158 patients who had undergone single-vessel coronary stenting for the ACE I/D polymorphism. RESULTS: Of the 158 patients, 56 (35%) had the D/D genotype, 71 (45%) had the I/D genotype and 31 (20%) had the I/I genotype. Prevalences of genotypes were compatible with Hardy-Weinberg equilibrium and distributions of ACE genotype among patients and 132 healthy controls from the same geographic area did not differ. At follow-up (after a median duration of 5.4 months), overall rates of angiographic restenosis and of revascularization of target lesion (RTL) were 32.3 and 22.8%, respectively. Of 51 patients with angiographic restenosis, 31 (60.8%) had focal and 20 (39.2%) had diffuse patterns of restenosis. Diffuse in-stent restenosis was significantly more prevalent among patients with D/D genotype (P = 0.016). Multiple stepwise logistic regression analysis identified ACE I/D polymorphism as the independent predictor of angiographic restenosis and RTL. Relative risk of angiographic restenosis was 6.29 [95% confidence interval (CI), 1.80-22.05, P = 0.0004] for D/D genotype and 3.88 (95% CI 1.11-13.12, P = 0.029) for I/D genotype, whereas relative risk of RTL was 7.44 (95% CI 1.60-34.58, P = 0.01) for D/D genotype and 3.88 (95% CI 0.083-18.15, P = 0.085) for I/D genotype. CONCLUSIONS: The ACE I/D polymorphism is significantly associated with risk of angiographic and clinical restenosis after coronary stenting. Angiographic pattern of restenosis is also significantly associated with I/D polymorphism, diffuse type being more prevalent among subjects with D/D genotype.     

Detection of the association between a deletion polymorphism in the gene encoding angiotensin I-converting enzyme and advanced diabetic retinopathy

We investigated the relationship between advanced diabetic retinopathy (ADR) and an angiotensin-converting enzyme (ACE) gene polymorphism in subjects with type 2 diabetes and ADR, pre-proliferative (PrePDR) or proliferative diabetic retinopathy (PDR) without overt nephropathy. Polymerase chain reactions were used to detect insertion/deletion (I/D) polymorphisms of the ACE gene. There was no difference in the frequency of II, ID, or DD genotypes, or of I and D alleles among subjects with type 2 diabetes without diabetic retinopathy (NDR) or with simple diabetic retinopathy (SDR) and non-diabetic controls. There was also no difference in the frequency of ACE genotypes among subjects with type 2 diabetes with NDR, or SDR and ADR. However, the frequency of the ACE DD genotype in ADR was significantly higher than that in controls (χ²=6.64, P=0.036). On the other hand, the frequency of the D allele in ADR was significantly higher than that in controls (χ²=6.33, P=0.012), NDR (χ²=4.18, P=0.041) and SDR (χ²=4.89, P=0.027), respectively. These results indicate a significant relationship between the presence of the D allele polymorphism in the ACE gene and ADR in Japanese subjects with type 2 diabetes and no overt nephropathy.     

血管紧张素转换酶和血管紧张素Ⅱ-1型受体基因多态性与冠心病的相关性分析

目的研究血管紧张素转换酶（ACE）基因I／D多态性和血管紧张素Ⅱ-Ⅰ型受体（AT1R）基因A1166／C多态性与冠心病（CHD）的关系。方法采用聚合酶链反应-限制性片段长度多态性（PCR—RFLP）技术检测130例CHD组和90例对照组ACE和AT1R基因多态性。结果ACE—DD基因型频率在CHD组显著高于对照组（38．5％，14．4％，P〈0．001）。AT1R—AC基因型在两组间差异无显著性（13．1％，10％，P〉0．05），但合并AC基因型的DD型患者发生CHD和MI的OR值（5．836和3．985）明显高于合并AA型（3．102和2．979）。结论ACE基因I／D多态性中DD基因型是冠心病发病的独立危险因素之一，AT1R—C等位基因增加ACE—DD型发生CHD和MI的危险，二者具有协同作用。     

血管紧张素转化酶基因插入／缺失多态性与老年糖耐量低减合并冠心病相关性研究

目的：探讨血管紧张素转化酶基因（ACE）多态性与中国汉族老年人糖耐量低减（IGR）及合并冠心病（CAD）的关系。方法：使用多聚合酶链反应方法检测79例糖耐量低减老年人和49例糖耐量正常（NGF）老年对照者的ACE第16内含子中长度为287bp碱基片段的插入／缺失（I／D）情况,结果：IGT组（n=79)和NGT组（n=40)相比,D型等位基因和DD基因型频率升高（P＜0．05,P＜0．005）;IGT合并冠心病组（n=31)和IG非冠心病组（n=48）相比,DD基因型频率升高（P＜均0．005）,结论：ACE多态性和与老年人糖耐量减冠心病相关,IGT和DD基因型是老年冠心病的重要危险因子。     

The impact of angiotensin converting enzyme insertion/deletion gene polymorphism on diabetic kidney disease: A debatable issue

ObjectiveThe objective of this study was to evaluate the influence of ACE I/D gene polymorphisms on diabetic kidney disease (DKD) risk.MethodsAll eligible investigations were identified, the number of various genotype in the case and control group were reviewed. The pooled analysis was performed using Stata software.ResultsIn overall subjects, 24,321 participants with 12,961 cases and 11,360 controls were included. the pooled analysis showed a significant link between D allele, DD or II genotype and DKD risk (D versus I: OR = 1.316, 95% CI: 1.213–1.427, P = 0.000; DD versus ID + II: OR = 1.414, 95% CI: 1.253–1.595, P = 0.000; II versus DD + ID: OR = 0.750, 95% CI: 0.647–0.869, P = 0.000). The subgroup pooled analysis showed that ACE I/D gene polymorphism was correlated with DKD both in Asian and in Chinese population. In addition, ACE I/D gene polymorphism was correlated with type 2 DKD (D versus I: OR = 1.361, 95% CI: 1.243–1.490, P = 0.000; DD versus ID + II: OR = 1.503, 95% CI: 1.310–1.726, P = 0.000; II versus DD + ID: OR = 0.738, 95% CI: 0.626 –0.870, P = 0.000). However, there was no obvious correlation in Caucasian subjects and type 1 diabetic patients.ConclusionACE I/D polymorphisms were correlated with DKD in Asian and type 2 diabetic populations. ACE D allele/DD genotype might be a risk factor, while ACE II genotype might be a protective factor for DKD.     

Endothelin-1 and vasopressin plasma levels are not associated with the insertion/deletion polymorphism of the human angiotensin I-converting enzyme gene in patients with coronary artery disease

The objective was to investigate whether the renin-angiotensin (RA) system and related peptides endothelin-1 (ET-1) and vasopressin (VP) influence the development of coronary artery disease (CAD). Angiotensin I-converting enzyme (ACE) insertion/deletion (I/D) gene polymorphism has been associated with the risk of CAD. The ACE I/D polymorphism determines ACE activity, but plasma levels of other RA system components remain unchanged. However, ET-1 and VP production could be increased by RA system-dependent stimulation, continually promoted by paracrine stimulation and sustained by neointimal growth. ET-1 and VP have not been associated with the ACE I/D polymorphism so far. The present study investigated the association of the ACE I/D polymorphism with plasma concentrations of ET-1 and VP, as well as with renin, angiotensin-II (AT-II) and ACE activity in 98 Caucasian individuals with CAD. ACE I/D polymorphism showed no association with plasma levels of VP, ET-1, AT-II or renin. These parameters were also not associated taking into consideration different patient variables, such as diabetes mellitus, hypertension or severity of CAD. Only plasma ACE activity was associated with the D allele. In conclusion, the ACE I/D polymorphism could not be related to plasma concentrations of VP, ET-1, renin or AT-II, but as previously demonstrated, it could only be related to ACE activity in patients with CAD. Differences in ACE activity between ACE I/D genotype subgroups are probably compensated within the RA system itself or within non-ACE pathways, so that plasma concentrations of the related peptides ET-1 and VP remain unaffected.     

血管紧张素转化酶基因的插入／缺失多态性与心肌梗塞关系的研究

本研究运用ＰＣＲ技术对我国人１１６例心肌梗塞（ＭＩ）和１０３例健康作对照的血管紧张素转化酶（ＡＣＥ）基因插入／缺失多态性进行了检测，并与血清ＡＣＥ水平、ＭＩ发病、冠状动脉病变支数等指标进行比较。结果显示ＭＩ组缺失等位基因Ｄ频率０．４６和ＤＤ基因型频率０．２７显著高于对照组的０．３３和０．１２（分别为Ｐ＜０．０１，Ｐ＜０．０５）。同时发现缺失多态性与血清ＡＣＥ水平、ＭＩ组冠状动脉病变支数呈相关性。表明ＡＣＥ基因缺失多态性可能是我国人群ＭＩ发病的重要危险因素之一。     

血管紧张素转换酶基因插燃失多态性与中国汉族人群心肌梗死相关洼的Meta分析

目的采用Meta分析的方法探讨血管紧张素转换酶基因插入/缺失（ACEI/D）多态性与中国汉族人群心肌梗死（MI）的相关性。方法系统检索中国生物医学文献数据、中国期刊全文数据库、中文科技期刊全文数据库和万方数据库中1995年至2012年6月间公开发表的病例-对照研究,对符合纳入标准的研究进行数据提取后采用Meta-Analyst3软件进行Meta分析,采用漏斗图检验发表偏倚。结果共纳入24项病例-对照研究,1821例MI患者和1951例对照。总体人群和亚组Meta分析结果均表明ACEI/D多态性与中国汉族人群MI相关性密切相关,携带D等位基因能够显著增加MI的易感性[Ivs.D：OR=0.56,95%CI：0.49～0.64;IIvs.DD：OR=0.37,95%CI：0.29～0.46;IDvs.DD：OR=0.48,95%CI：0.39～0.59;（ID＋II）vs.DD：OR=0.43,95%CI：0.34～0.53;IIvs.（DD＋ID）：OR=0.57,95%CI：0.50～0.66]。有轻微的发表偏倚存在。结论本研究结果支持ACEI/D多态性与中国汉族人群MI发病风险相关,但并不能证明I/D多态性是MI的独立危险因素,亦不能证明D等位基因为致病基因、I等位基因为保护基因。