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1.
血管紧张素转换酶基因插入/缺失多态性检测方法的研究   总被引:27,自引:0,他引:27  
目的 采用三条引物法进行力紧张素转换酶(ACE)基因分型检测,并与Rigat法进行比较,以探讨Rigat造成DD型分型的错判率,并用此方法检测了中国汉族人群中ACE基因I/D基因型的分布频率以及插入(I)/缺失(D)多态性与高血压病(EH)间的相关性。方法 EH患(EH组)206例,用上述两种方法进行ACE基因分型;正常血压组(NT组)156例以及核心家系25个共118例,三条引物法进行ACE基因分型。结果 EH组Rigat法得出的DD型比例较三条引物法高。与三条引物法相比较,Rigat法对DD型的错判率为13.04%。用三条引物法进行基因分型的结果如下:(1)在NT组,ACE各基因型的分布频率为Ⅱ型0.51,ID型0.41,DD型0.08。等位基因频率为:I0.71,D0.29。(2)25个EH家系所有成员的基因分型结果,完全符合孟德尔遗传规律。(3)EH与NT两组间基因型和等位基因频率无显性差异。结论 三条引物法1次完成ACE基因分型,有良好的特异性、准确性和重复性。  相似文献   

2.
高丙峰  赵艳  刘兴德 《山东医药》2010,50(33):39-40
目的研究血管紧张素转换酶(ACE)基因插入/缺失(I/D)多态性的分布及其与原发性高血压(EH)、高血压性脑出血(CH)之间的关系。方法采用常规酚—氯仿抽提法提取外周血基因组DNA,PCR检测ACE基因I/D多态性基因型频率及等位基因频率。结果 EH、CH患者及健康对照者ACE基因DD基因型频率分别为17.95%、17.55%、6.45%;D等位基因的分布频率分别是45.51%、45.18%、33.06%。与健康对照比较,EH和CH患者间ACE基因DD基因型频率和D等位基因频率均显著增高(P〈0.05),但EH和CH患者间无统计学差异。结论 ACE基因DD基因型和D等位基因可能是EH和CH的遗传易感基因。  相似文献   

3.
ACE基因多态性与老年人原发性高血压的关系   总被引:2,自引:0,他引:2  
目的 探讨血管紧张素Ⅰ转换酶(ACE)基因多态性与老年人原发性高血压(EH)的相关性。方法 采用一步PCR3条引物法,对287例老年EH(高血压组)和301例正常老年人(对照组)进行ACE基因I/D多态性分型,并进行基因型及等位基因频率计数,组间采用χ^2检验进行统计学分析。结果 高血压组DD型基因频率及D等位基因频率分别为10.4%和30.5%,对照组分别为9.3%和31.2%,经χ^2检验,2组间无显著差别(P>0.05)。结论 ACE基因多态性与老年人原发性高血压(EH)无关。一步PCR3条引物法更准确可靠,可减少DD型错判率。  相似文献   

4.
目的 探讨佳木斯地区汉族中老年人群血管紧张素转换酶(ACE)基因的插入/缺失(L/D)多态性与原发性高血压(EH)的关系。方法 应用聚合酶链反应(PCR)、电泳分型等方法,检测佳木斯地区102例汉族人原发性高血压患者和107例正常对照组的ACE基因L/D多态性。结果 正常对照组及原发性高血压患者的ACE基因L/D多态性Ⅱ、ID、DD基因型频率分别为0.3925、0.4299、0.1776和0.4313、0.4118、0.1569,I、D等位基因分布频率分别为0.6074、0.3926和0.6372、0.3628,两组间无显著差异。结论 ACE基因L/D多态性可能与佳木斯地区汉族人原发性高血压病无关。  相似文献   

5.
目的研究细胞间黏附分子(ICAM)系统的3个基因(ICAM1、ICAM2和ICAM3基因)的7个单核苷酸多态性(SNPs)位点与原发性高血压的相关性。方法采用TaqMan荧光定量PCR技术,对中国上海地区313例老年高血压(EH)患者和252例老年血压正常(NT)者进行基因分型,单位点及单倍型分析。结果发现ICAM2基冈的A/G多态分布与高血压相关,G等位基因频率在EH组高于NT组(0.35vs0.23,P〈0.001);G等位基因携带者(AG+GG基因型)左室重量指数高于AA基因型(108.60±26.36)g,m2VS(100.30±23.32)g/m2,(P=0.023)。末发现其他SNP分布与高血压相关。结论ICAM2基因A/G多态与老年原发性高血压相关。  相似文献   

6.
胡学俊  柯永胜 《山东医药》2010,50(49):16-18
目的探讨血管紧张素转换酶(ACE)基因I/D、血管紧张素Ⅱ-1型受体(ATlR)基因A1166C多态性与奥美沙坦酯降压作用的关系。方法76例轻、中度高血压(EH)患者服用奥美沙坦酯治疗8周;用聚合酶链式反应一限制性片段长度多态性对其血白细胞基因组DNA肾索-血管紧张素-醛固酮系统基因多态性位点ACEI/D、ATlRA1166C基因型进行检测。结果ACE基因含D等位基因患者的SBP、DBP、脉压降幅及降压总有效率均高于含I等位基因者,DD+AA基因型患者的SBP降幅高于DD+AC基因型者(P均〈0.05)。结论ACE基因含D等位基因EH患者对奥美沙坦酯降压治疗敏感;ACE、AT1R基因联合作用可能影响奥美沙坦酯的降压疗效。  相似文献   

7.
目的:探讨我国北方汉族人群CYP4F2基因单核苷酸多态性位点rs2108622与原发性高血压的相关性。方法:采用病例-对照研究的方法,选取在北京安贞医院就诊的北方汉族原发性高血压者765例(HT组)和同期健康体检血压正常者477例(NT组)。应用TaqMan荧光定量法对CYP4F2基因rs2108622进行基因分型,评估该多态性位点与我国北方汉族人群原发性高血压发病风险的关系。结果:rs2108622位点在HT组和NT组的基因型分别为AA型61/35、AG型296/162、GG型403/273;A等位基因频率分别为27.5%/24.7%,G等位基因频率分别72.5%/75.3%。两组间基因型和等位基因频率分布,差异均无统计学意义(分别为P=0.218,P=0.123)。多因素Logistic回归分析显示:等位基因模型(OR=1.147,95%CI=0.853!1.543)、显性模型(OR=0.788,95%CI=0.549!1.131)、隐性模型(OR=1.153,95%CI=0.549!2.422)、纯合子模型(OR=1.018,95%CI=0.48!2.157)、加性模型(OR=0.872,95%CI=0.649!1.172)均未发现该多态性位点与原发性高血压存在相关性。根据性别进行亚组分析显示:男性亚组中A等位基因频率在HT组(27.5%)高于NT组(23.7%),但差异无统计学意义(P=0.096)。而在女性亚组中各基因型和等位基因频率分布两组间比较,亦均差异无统计学意义(P=0.579和P=0.677)。结论:本研究发现CYP4F2基因rs2108622多态性位点可能与中国北方汉族人群原发性高血压的发病不存在相关性。  相似文献   

8.
Hu BC  Chu SL  Wang JG  Wang GL  Gao PJ  Zhu DL 《中华内科杂志》2006,45(4):281-284
目的 探讨转化生长因子β1(TGF-β1)T869C、醛固酮合成酶(CYP1182)-344T/C和Oα-内收蛋白Gly460Trp3个单核苷酸多态性(SNPs)与原发性高血压(EH)的关系。方法采用限制性片段长度多态性和突变基因分离PCR法,在396例EH患者和214例正常人中分析T869C、-344T/C和Gly460Trp多态性的基因型分布。结果在单基因研究中,女性EH患者与对照组比较,TGF-β1T869C基因型和等位基因频率差异有统计学意义(P值分别=0.017,0.014);与T等位基因携带者相比,CC纯合子EH患病率差异有统计学意义(OR=2.97,95%CI 1.38~6.32,P=0.004);而男性则两组间T869C基因型分布和等位基因频率差异无统计学意义(P〉0.05)。采用多基因联合分析,TGF-β1 CC纯合子中,CYP1182Tr纯合子EH患病率高于C等位基因携带者(OR=1.99,95%CI 1.01~3.74,P=0.03)。结论TGF-β1 T869C多态性可能与中国汉族女性EH相关;在EH人群中,TGF-β1 T869C和CYP1182-344T/C多态性可能有协同作用。  相似文献   

9.
海南汉族高血压及高血压脑梗塞与ACE基因多态性的关系   总被引:3,自引:0,他引:3  
目的:研究海南汉族高血压及高血压脑梗塞与血管紧张素转换酶(ACE)基因多态性的关系。方法:采用聚合酶链反应(PCR)方法,对海南汉族146例正常人、106例高血压患者和227例高血压脑梗塞患者的ACE基因插入/缺失(I/D)多态性进行检测。观察DD、DI、II基因型频率及其等位D、I基因频率,并对所有普通PCR定为DD型的样本进行插入特异性PCR检测.以减少误分型率,并分析高血压患者及脑梗塞患者的经典危险因素。结果:海南汉族高血压组、高血压脑梗塞组与正常对照组进行比较,三组的DD,DI、II基因频率及D、I等位基因频率无显著性差异。结论:ACE基因I/D多态性与海南汉族正常人、高血压及高血压脑梗塞无显著关联,说明ACE插入/缺失多态性不是海南汉族高血压及高血压脑梗塞的独立危险因素。  相似文献   

10.
李锐  邱健  毕媛  赵树进  石磊  洪长江 《心脏杂志》2010,22(3):365-368
目的:观察沙坦类药物代谢酶细胞色素氧化酶P450 2C9(CYP2C9)基因的多态性和血管紧张素Ⅰ转换酶(angiotension I-coverting enzyme,ACE)基因的多态性在广东汉族原发性高血压(essential hypertension,EH)患者中的分布特征。方法:应用PCR、基因测序及琼脂糖凝胶电泳等方法,对206例EH患者CYP2C9和ACE基因型进行检测分析。结果:广东汉族EH患者中CYP2C9基因的1075位C等位基因的频率为3.2%,广东汉族EH患者中CYP2C9*3等位基因的频率与广东人群相比,无显著性差异;ACE基因D、I等位基因的频率分别为56.3%和43.7%。ACE基因的D等位基因频率显著高于广东及国内其他地区正常人群中的频率(P0.05)。结论:在广东汉族EH患者中,未发现CYP2C9*3等位基因与EH有关,而ACE基因的D等位基因可能和EH有关,同时,对EH患者进行CYP2C9和ACE基因的基因型的检测,可能对临床个体化降压治疗具有一定的指导意义。  相似文献   

11.
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。  相似文献   

12.
The circulating levels of angiotensin I-converting enzyme (ACE) are linked with a 287-base pair insertion/deletion (I/D) polymorphism at intron 16 of the ACE gene. Thus, the homozygous deletion (D/D genotype) could cause chronic vasoconstriction, arterial hypertension and, possibly, coronary artery disease. Also, the increase in plasminogen activator inhibitor-1 level and impaired fibrinolysis were related with the D/D genotype. The D allele has been recently associated with venous thrombosis among African-American men as well as among patients that underwent elective total hip replacement. We assess the risk of venous thromboembolism (VTE) linked with each genotype of the I/D ACE gene polymorphism in a Caucasian population by means of a case-control study. We genotyped the ACE gene in a series of 148 patients aged 45.0 +/- 16.0 years (range, 11-80 years), objectively diagnosed in our centre of deep-vein thrombosis or pulmonary embolism, and in 240 thrombosis-free subjects (25-75 years) from the same geographic area. The observed difference in D allele frequencies between patients (0.56) and controls (0.62) was nonsignificant overall; however, statistical significance (P = 0.05) was found by considering the recessive hypothesis (D/D versus I/ D + I/I) [odds ratio (OR) = 0.64, 95% confidence interval (CI95) = 0.42-0.99]. The OR was 0.88 (CI95 = 0.51-1.53; P = 0.65) for the dominant hypothesis (D/D + I/D versus I/I genotypes). The relative risk for the D allele was close to 1 for the dominant hypothesis, both considering gender and recurrent tendency; however, it was protective in men regarding the recessive hypothesis (OR = 0.53, CI95 = 0.29-0.97, P = 0.04). The I/D ACE allele distribution was similar among the 46 thrombophilic patients (antithrombin, protein C or protein S deficiencies, factor V R506Q, factor II G20210A or lupus anticoagulant). In conclusion, among (Spanish) Caucasians, this study does not support the hypothesis that the deletion allele (D) of the ACE gene could be a significant risk factor for VTE, being protective in men.  相似文献   

13.
目的 研究无锡地区人群中间隙性连接蛋白37 (connexin 37,CX 37)基因1019C/T多态性与原发性高血压的相关性.方法 入选在无锡市人民医院初次诊断为原发性高血压的患者1 126例,874名健康体检者作为正常对照组,均采用基因测序技术对CX37基因1019多态性位点基因型进行检测,比较两组人群中基因型及等位基因分布差异.结果 (1)两组人群中均存在CX 37基因1019C/T多态性,基因型分布均符合Hardy-Weinberg遗传平衡定律.(2)原发性高血压组与正常对照组相比,C等位基因分布频率升高(57.37%vs.42.05%,P<0.01).C等位基因携带者(CC+TC)在原发性高血压组高于对照组,差异有统计学意义(80.46% vs.66.70%,P<0.01).与Tr纯合子相比,(CC+TC)基因型原发性高血压患病风险增加(OR=2.06,95% CI:1.68~2.52).对性别进行亚组分析显示:无论男性还是女性人群中原发性高血压组C等位基因携带者频率均显著高于正常对照组(男性:79.19%vs.69.05%,P<0.01;女性:81.75% vs.64.40%,P<0.01),C等位基因携带者原发性高血压患病风险明显高于TT型(男性:OR=1.71,95%CI:1.28~2.27;女性:OR=2.48,95% CI:1.85~3.31).结论 CX37 C等位基因可能与老年原发性高血压相关.  相似文献   

14.
Angiotensin-converting enzyme (ACE) is the key enzyme of the renin angiotensin system (RAS) which maintains the blood pressure homeostasis in our body. The association of the ACE insertion/deletion (I/D) polymorphism with essential hypertension has been demonstrated by many studies. The purpose of the present study is to investigate the association of the insertion/deletion polymorphism of the ACE gene with hypertension and additive diseases in North Indian population. In total, 222 hypertensive and 218 normotensive adults participated in this hospital-based study. Anthropometric measures, lipids profiles, blood glucose, and blood pressure (BP) measures were collected from participants. ACE I/D polymorphism was determined by using insertion-specific amplification. The mean ages of study groups were 50.35 ± 12.40 and 47.32 ± 11.94 for cases and controls, respectively. Significant differences were observed in the frequencies of DD, ID, and II genotypes among the hypertensive and normotensive groups which were found to be 29.7%, 38.7%, and 31.5% vs. 53.7%, 23.4%, and 22.9%, respectively. It has been observed that the ACE ID genotype was significantly (p < 0.05) higher in hypertensive subjects, whereas, the DD genotype was significantly (p < 0.05) higher in control subjects. A strong association was found between cardiovascular diseases (CVDs) and ID genotype [p = 0.017, odds ratio (OR) = 3.091, 95% confidence interval (CI) = 1.224–7.807]. ID [p = 0.002, OR = 2.020, 95% CI = 1.281–3.185] and II [p = 0.032, OR = 1.677, 95% CI = 1.044–2.694] genotypes are more prone to diabetes with hypertension. This finding suggests that ACE insertion/deletion polymorphism is associated with hypertension and additive diseases in North Indians.  相似文献   

15.
目的:探讨去甲肾上腺素转运基因[溶质载体家族6,成员2(SLC6A2)]启动子3、血管紧张素转换酶(ACE)基因多态性与高血压病合并心力衰竭(EH+HF)的相关性。方法:收集176例心功能Ⅲ-Ⅳ级的EH+HF汉族患者,及与之按性别、年龄±4、居住地相匹配的心功能Ⅰ-Ⅱ级的高血压病患者(EH组)及健康体检者(正常对照组)各176例,应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)检测SLC6A2启动子3的A/G多态性及血管紧张素转换酶[ACE(I/D)]多态性基因型。结果:卡方分割显示EH+HF组SLC6A2-P3-AG/GG基因型频率(41.48%)显著高于EH组(26.70%)和正常对照组(22.16%),x2=7.937,P=0.005;EH+HF组ACE-DD基因型频率(26.14%)显著高于EH组(12.50%)和正常对照组(10.80%),x2=17.897,P〈0.001。Logistic回归以EH组为参照系,调整混杂因素后,SLC6A2-AG/GG,ACE-DD型,DD+AG/GG的OR值分别为1.905(95%CI:1.138-3.188,P=0.014),1.908(95%CI:1.009-3.609,P=0.047),3.356(95%CI:1.188-9.475,P=0.022)。结论:携带有ACE-DD型、SLC6A2-AG/GG型可能是高血压病合并心力衰竭独立危险因素,DD+AG/GG的危险性和预测作用最大。  相似文献   

16.
BACKGROUND: Studies on the role of the angiotensin-converting enzyme (ACE) gene in the development of hypertension have yielded conflicting results. Recent studies suggested that this gene might have smoking-dependent effects on the development of cardiovascular disease. OBJECTIVE: To study the relationship between the ACE insertion/deletion (I/D) polymorphism, blood pressure and risk of hypertension in current, former and non-smokers in a population-based cohort. METHODS: We included 2412 non-smokers, 2794 former smokers and 1508 current smokers, all participants in the Rotterdam Study. In each group, we assessed the relationship between the ACE I/D polymorphism, systolic (SBP) and diastolic (DBP) blood pressures and risk of hypertension. Mean blood pressures and prevalence of hypertension were compared between carriers and non-carriers of the D allele. All analyses were adjusted for age, sex, body mass index, diabetes mellitus, high-density lipoprotein cholesterol, total cholesterol and use of antihypertensive medication. RESULTS: In non-smokers and former smokers, blood pressure and the risk of hypertension did not differ significantly between genotypes. In smokers, we found a significant increase in SBP in DD carriers (139.6 +/- 22.8 mmHg) compared with II carriers (136.0 +/- 22.7 mmHg) (P = 0.04). No effect of ACE genotype was observed for DBP. The risk of hypertension was significantly increased in smokers who carried one [odds ratio (OR) 1.4, 95% confidence interval (CI) 1.0 to 1.9; P = 0.05] or two (OR 1.5, 95% CI 1.1 to 2.2; P = 0.02) copies of the D allele. CONCLUSIONS: The D allele of the ACE polymorphism is associated with a significantly increased SBP and risk of hypertension in smokers. Our study underlines the importance of gene-environment interactions in the study of candidate genes for hypertension.  相似文献   

17.
OBJECTIVE: When compared with other U.S. populations, African Americans have excess hypertension. Genetic variants in elements of the renin-angiotensin-aldosterone system (RAAS), namely the angiotensin-converting enzyme (ACE), aldosterone synthase (CYP11B2), and angiotensin II type 1 receptor (AGTR1) genes, have been associated with risk of hypertension in some populations. METHODS: We genotyped the D/I polymorphism in the ACE gene, the C(-344)T polymorphism in the CYP11B2 gene, and the C(-535)T polymorphism in the AGTR1 gene among African American and Latino members of the Multiethnic Cohort Study (MEC) to determine their association with hypertension. RESULTS: We observed no significant increase in the risk of hypertension for either African Americans or Latinos homozygous or heterozygous for the D allele of the ACE gene. Among African Americans we observed carriers of the (-344)T allele of CYP11B2 to be at increased risk of hypertension (versus CC genotype: TC genotype, OR = 1.66 [95% CI: 1.01-2.72]; TT genotype, OR = 1.74 [95% CI: 1.07-2.82]). There was also an increase in risk of hypertension associated with the AGTR1 T allele for African Americans (versus CC genotype: TC genotype, OR = 2.62 [95% CI: 1.46-4.72]; TT genotype, OR = 2.67 [95% CI: 1.51-4.74]). The associations observed with CYP11B2 and AGTR1 genotypes were not observed among Latinos. CONCLUSION: These data suggest that the (-535)T allele of AGTR1 and (-344)T allele of CYP11B2 may increase hypertension risk among African Americans but not among Latinos. Characterization of the linkage disequilibrium and haplotype patterns in the RAAS pathway genes will be crucial to understanding differences in hypertension susceptibility in these ethnic populations.  相似文献   

18.
PURPOSE: Systemic sclerosis is characterized by progressive microvascular occlusion and fibrosis and by an imbalance in the fibrinolytic system. In vivo and in vitro studies suggest that the renin-angiotensin system partly regulates vascular fibrinolytic balance. Angiotensin II increases the production and secretion of plasminogen activator inhibitor-1, while angiotensin-converting enzyme (ACE) contributes to reduced production of tissue plasminogen activator and endothelial nitric oxide synthesis by bradykinin degradation. The aim of our study was to investigate the effects of ACE insertion/deletion (I/D) and endothelial nitric oxide synthase (eNOS) Glu298Asp (G894-->T) and T-786-->C polymorphisms in patients with systemic sclerosis. SUBJECTS AND METHODS: We studied 73 consecutive patients (47 with limited and 26 with diffuse cutaneous systemic sclerosis) and 112 control subjects. ACE I/D and eNOS polymorphisms were genotyped by polymerase chain reaction-restriction fragment length polymorphism analysis. RESULTS: The ACE I/D and the eNOS G894-->T polymorphisms were more common in patients than in controls (for the ACE D allele: odds ratio [OR] = 3.4; 95% confidence interval [CI]: 1.5 to 7.9; P = 0.003; for the eNOS T allele: OR = 1.9; 95% CI: 1.0 to 3.4; P = 0.04). There was no association between the eNOS T-786-->C polymorphism and systemic sclerosis. CONCLUSIONS: Our findings of an increased risk of systemic sclerosis in ACE D and eNOS 894T allele carriers suggest that these polymorphisms may contribute to the pathogenesis of the disease.  相似文献   

19.
目的:研究年龄在E-选择素G98T基因多态性对高血压影响中的作用。方法:高血压组326例,对照组216例。对2组进行血压测量,检测生化指标及一氧化氮(NO)、内皮素(ET)、血管紧张素Ⅰ(AⅠ)、血管紧张素Ⅱ(AⅡ)、醛固酮(ALD)。以聚合酶链反应-限制片段长度多态性(PCR-RFLP)方法进行E-选择素DNA多态性分析,电泳判断基因型并测序。结果:检测到TT、GG、GT3种基因型。在<40岁组,携带T等位基因发生高血压的危险性为G的6.294倍[P=0.007;比值比(OR)=6.294;95%可信区间(CI):1.361~29.11]。在40~60岁及>60岁组,高血压组与对照组的等位基因频率差异无显著性(P=0.528和0.965)。<40岁的HT组中TT-TG基因型诊室收缩压(CSBP)、诊室舒张压(CDBP)及平均动脉压(MAP)显著高于GG型(P分别为0.006、0.023和0.036)。在40~60岁组:TT-TG基因型的CSBP、MAP也显著高于GG基因型(P分别为0.031和0.042),而>60岁组,两基因型间血压差异无显著性。结论:E-选择素G98T基因多态性与高血压显著相关,T等位基因携带者发生高血压风险大,血压值较高。  相似文献   

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