血管紧张素转化酶及血管紧张素Ⅱ-1型受体基因多态性与高血压相关性

目的 探讨血管紧张素转化酶(ACE)基因插入/缺失(I/D)多态性、血管紧张素Ⅱ-1型受体(AT1R)基因A1166C多态性与原发性高血压(EH)的相关性,以及多种危险因素与EH的关系.方法 选取125例健康者(对照组)和148例EH患者(EH组)作为研究对象作问卷调查、医学体检和血液生化项目检测,应用聚合酶链反应(PCR)技术检测研究对象ACE基因的I/D多态性;应用PCR、限制性内切酶酶切的方法检测AT1R基因A1166C多态性,并用Logistic回归筛选高血压的危险因素.结果 EH组和对照组的DD基因型频率和D等位基因频率差异均不显著.EH组的AC基因型频率23.0%,C等位基因频率11.5%,均显著高于对照组的12.8%和6.4%.EH组ACE基因DD型+AT1R基因AC型联合基因型频率7.4%,显著高于对照组的1.6%.多因素Logistic回归结果表明,EH的危险因素主要有BMI、EH家族史和DD+AC联合基因型.结论 ACE基因D等位基因可能与EH发病无关联;AT1R基因A1166C多态性可能是EH的重要遗传因素;DD+AC联合基因型对EH的发病有显著的联合促进作用.     

血管紧张素Ⅱ1型受体A1166C多态性与高血压左心室肥厚的相关性研究

目的 探讨血管紧张素Ⅱ1型受体（AT1R）A1166C多态性与高血压及高血压左心室肥厚的关系。方法 选取249例原发性高血压患者进行超声心动图检查和AT1RA1166C多态性测定。结果 AA基因型患者收缩压较AC＋CC基因型高，差异具有显著性（P=0．006）；舒张压具有同样趋势（P=0．342）。高血压人群中，AA基因型与AC＋CC基因型相比，左心室内径、室间隔厚度、左心室后壁厚度、左心室质量及左心室质量指数差异均无显著性（P〉0．05）。结论 中国原发性高血压人群中，AT1R基因A1166C多态性AA基因型可能与血压升高有关；可能与中国人群原发性高血压左心室肥厚无关。     

血管紧张素Ⅱ1型受体基因A1166C多态性与慢性心力衰竭的相关性研究

目的 研究血管紧张素Ⅱ1型受体(AT1R)基因A1166C多态性与慢性心力衰竭的相关性.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135例慢性心力衰竭患者和121例正常对照者的AT1R基因A1166C位点的基因型.结果 病例组AA、AC、CC基因型频率为87.6%、12.4%、0,等位基因频率为93.8%、6.2%;正常对照组AA、AC、CC基因型频率为87.6%、11.6%、0.8%,等位基因频率为93.6%、6.4%;病例组基因型及等位基因频率与正常对照组比较差异均无统计学意义(均P＞0.05).结论AT1R基因A1166C多态性与慢性心力衰竭无关.     

肾素-血管紧张素系统基因多态性与冠状动脉血栓疾病

为了观察中国人群中肾素-血管紧张素系统基因多态性的分布特征，并分析这些基因多态性与冠状动脉血栓(CATD)疾病的相关性以及该基因多态性间的相互作用，采用直接聚合酶链式反应(PCR)和PCR-限制性片段长度多态性(PCR—RFLP)方法对192例冠状动脉血栓疾病患者和110例对照组个体进行血管紧张素转换酶(ACE)、血管紧张素原(AGT)和血管紧张素II I型受体(AT1R)基因的基因多态性进行检测。结果表明：①在中国人群中，ACE基因各基因型分布分别为DD12．2％、ID43．9％和II43．9％；AGT基因各基因型分布为MM8．2％，MT36．7％和TT55．1％；AT1R基因各基因型分布分别为AA91．8％和AC8．2％。②冠状动脉血栓疾病组与对照组相比，上述3种基因多态性的分布均无明显差异。③同时携带AT1R—AC和AGT—TT基因型的个体，与AT1R—AA和AGT—TT基因型个体相比，罹患CATD的相对危险度达到3．517(95％C10．988—12．527)；与AC基因型和非TT基因型个体相比，罹患CATD的危险性可增加至15．000(95％CI 1．940—115．963)；在AT1R—AC基因型个体，等位基因D在CATD组和对照组的分布亦存在有明显的差异(P=0．017)。结论：我国人群ACE基因I／D多态性、AGT基因M235T多态性和ATlR基因A1166C多态性各基因型和等位基因的分布明显不同于西方人群；上述3种基因多态性不是我国人群冠状动脉血栓疾病或心肌梗塞的独立的危险因素。但AT1R基因AC基因型与AGT基因TT基因型、AT1R基因AC基因型和ACE基因等位基因D在罹患冠状动脉血栓疾病的危险性上有显著的协同作用。     

AT1R基因A1166C多态性与急性心肌梗死的相关性研究

目的研究AT1R基因A1166C多态性与急性心肌梗死(AMI)的相关性。方法采用PCR-RFLP方法,对105例初发AMI患者和111例健康对照个体进行AT1R基因A1166C多态性分析。结果 AT1R基因A1166C多态性中AA和AC+CC基因型在AMI患者组的频率分别为88.6%和11.4%,等位基因A和C的频率分别为93.3%和6.7%;AA和AC+CC基因型在对照组中的频率分别为92.8%和7.2%,等位基因A和C的频率分别为95.9%和4.1%。AMI组与对照组比较,AA和AC+CC基因型频率及A和C两等位基因频率均无统计学显著性差异(P>0.05)。Logistic回归分析显示高血压、冠状动脉疾病家族史、高密度脂蛋白胆固醇、低密度脂蛋白胆固醇是AMI发生的独立危险因素(P<0.05),高密度脂蛋白胆固醇是保护性因素(OR<1,95%CI 0.155～0.931),其余三项为危险因素(OR>1)。结论 AT1R基因A1166C多态性与AMI的发生可能无关联。     

血管紧张素Ⅱ1型受体基因多态性与原发性高血压的关系

目的 探讨血管紧张素Ⅱ1型受体(AT1R)基因多态性与原发性高血压(EH)之间的关系.方法 应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)对200例汉族EH患者(EH组)和192例正常血压者(对照组)的AT1R基因1166A/C及-810A/T多态性进行检测,测定空腹血糖、甘油三酯(TG)、总胆固醇(TC)、低密度脂蛋白胆固醇(LDL-C)及高密度脂蛋白胆固醇(HDL-C)等生物化学指标,分析各基因型和等位基因频率与EH的关系.结果 1166A/C等位基因和基因型频率在EH组和对照组的分布无统计学差异(P均＞0.05),-810A/T各基因型在EH组和对照组间差异有统计学意义(x2=10.862,P=0.004),-810T等位基因频率在EH组显著增高[22.5%(102/400)与11.5%(44/384),x2=12.745,P=0.000],用Logistic回归模型校正了传统危险因素的影响后,-810AT和TT基因型的携带者患高血压的危险性显著增加(P=0.003,OR值为2.57,95%CI:1.37～4.84).结论 AT1R-810A/T多态性与EH发病相关,-810T等位基因可能是EH发病的风险因子.     

血管紧张素II1型受体基因多态性与原发性高血压的关系

目的探讨血管紧张素Ⅱ1型受体（AT1R）基因多态性与原发性高血压（EH）之间的关系。方法应用聚合酶链反应-限制性片段长度多态性（PCR—RFLP）对200例汉族EH患者（EH组）和192例正常血压者（对照组）的ATlR基因1166A／C及-810A／T多态性进行检测,测定空腹血糖、甘油三酯（TG）、总胆固醇（TC）、低密度脂蛋白胆固醇（LDL—C）及高密度脂蛋白胆固醇（HDL—C）等生物化学指标,分析各基因型和等位基因频率与EH的关系。结果1166A／C等位基因和基因型频率在EH组和对照组的分布无统计学差异（P均〉0．05）,-810A／T各基因型在EH组和对照组间差异有统计学意义（χ^2=10．862,P=0．004）,-810T等位基因频率在EH组显著增高[22．5％（102／400）与11．5％（44／384）,χ^2=12．745,P=0．000],用Logistic回归模型校正了传统危险因素的影响后,-810AT和TT基因型的携带者患高血压的危险性显著增加（P=0．003,OR值为2．57,95％CI：1．37～4．84）。结论AT1R-810A／T多态性与EH发病相关,-810T等位基因可能是EH发病的风险因子。     

A1166C polymorphism of the angiotensin AT1 receptor (AT1R) gene alters endothelial response to statin treatment.

BACKGROUND: The function of vascular endothelium is influenced by several factors: low-density lipoprotein (LDL) cholesterol, oxidative stress and the reninangiotensin system. METHODS: We tested the hypothesis that polymorphisms A1166C of the angiotensin AT1 receptor (AT1R) gene, C242T and A640G of the pphox22 gene (p22 phox is an essential component of NADH/NADPH oxidases) and G894T of the endothelial nitric oxide (NO) synthase (eNOS) gene influence endothelial function and its reaction to statin treatment. In 44 patients with coronary artery disease or hypercholesterolemia (not on lipid-lowering treatment), lipid profile and endothelial function (brachial artery flow-mediated dilation, FMD) were measured at baseline and after treatment with statins for 8-12 weeks. All subjects were genotyped for the above-mentioned polymorphisms. RESULTS: None of the polymorphisms significantly predicted baseline FMD. Patients with the C allele of A1166C showed smaller changes in FMD in comparison with patients with the AA genotype (-0.044+/-0.439% vs. 0.386+/-0.599%; p=0.016). None of the other polymorphisms significantly influenced changes in FMD. CONCLUSIONS: The C allele of AT1R A1166C is associated with significantly lower endothelial response to statin treatment.     

血管紧张素Ⅱ1型受体基因多态性与肾病综合征的关系

目的 探讨血管紧张素Ⅱ1型受体(AT1R) A1166C基因多态性与桂西地区壮族人群原发性肾病综合征的关系。方法 选取原发性肾病综合征患者46例为肾病组，健康体检者52例为正常对照组；采用聚合酶链反应-限制性核酸内切酶片断长度多肽性技术分析肾病组与对照组的AT1R A1166C基因型和基因分布频率。结果 在肾病组和对照组中均以AA型最常见，CC型未发现，两组的AT1R基因频率分布无显著性差异；在肾病组中比较不同AT1R基因型的生化结果，亦无显著性差异；表现为膜性肾病、局灶性节段性肾小球硬化等肾脏病变重的患者是以AC基因型多见，差异有显著性。结论 在桂西地区壮族人群中，AT1R基因多态性与原发性肾病综合征的发生无明确关联，但可能与原发性肾病综合征的进展及预后有关。     

血管紧张素系统基因多态性与早发冠心病的相关性研究

目的探讨血管紧张素转换酶（ACE）和血管紧张素Ⅱ1型受体（AT1R）基因多态性与早发冠心病（CAD）的关系。方法用PCR法检测41例早发CAD和64例迟发CAD患者体细胞ACE基因插入／缺失（I／D）多态性和AT1R-A1166C基因多态性，并与50例健康者对照。结果105例CAD患者ACE的DD基因频率分布与对照组比较差异有显著性（P〈0．05）；早发和迟发CAD患者与对照组比较，D等位基因和DD基因频率显著高于对照组（P〈0．05）。早发CAD组AT1R的CC基因型和C等位基因频率与对照组相比差异有显著性（P=0．036，P=0．008）。联合基因多态分析，早发CAD合并ACE-DD＋AT1 R—CC基因型频率显著高于对照组（P=0．036）；迟发CAD合并ACE-DD＋AT1 R—CC基因型频率与对照组比较差异无显著性（P=0．206）。结论早发CAD组与ACE的DD基因频率和ATIR的A1166C基因频率分布相关，ACE-DD基因频率与AT1R—CC基因频率在早发CAD的发病中具有协同作用。     

血管紧张素Ⅱ—1型受体基因多态性与宁夏汉族原发性高血压病的相关性研究

目的：研究血管紧张素Ⅱ-1型受体（angiogenesis Ⅱ type1,ATlR）基因A1166C多态性与宁夏自治区汉族原发性高血压病（essential hypertension,EH）的关系。方法：采用多聚酶链式反应（polymerase chain reaction,PCR）结合限制性片段长度多态性（restriction fragment length poly orphism,RFLP）方法检测160例原发性高血压病患者（EH组）和176例血压值正常者（对照组）的外周血白细胞DNAAT1R（A1166C）的基因多态性,统计分析该位点不同基因型及等位基因频率在EH组和对照组中的分布。结果：AA、AC和CC基因型分布频率在EH组中分别为93．1％、6．3％和0．6％;在对照组中分别为87．5％、11．4％和1．1％,2组比较差异无统计学意义（P〉0．05）;A1166与1166C等位基因频率在EH组中分别为96．3％和3．8％;在对照组中分别为93．2％和6．8％2组比较差异无统计学意义（P〉0．05）。结论：AT1R基因A1166C多态位点分子变异与宁夏自治区汉族易感原发性高血压病无显著相关性。     

Association of angiotensin II type 1 receptor gene polymorphism with carotid atherosclerosis.

BACKGROUND: Polymorphisms of the angiotensin II type 1 receptor (AGTR1) gene are associated with essential hypertension and cardiovascular disease, but the correlation between AGTR1 A1166C polymorphism and carotid intima-media thickness (IMT) remains unclear. We sought to demonstrate correlation between AGTR1 gene polymorphism and carotid atherosclerosis in a Chinese population. METHOD: A total of 150 patients diagnosed with essential hypertension were included in this study. The AGTR1 A1166C polymorphism was detected by restriction analysis of the polymerase chain reaction product with Ddel digestion. Carotid IMT was measured by B-mode ultrasonography. RESULTS: The AC genotype frequency and the C1166 allele frequency of the AGTR1 gene in essential hypertensive patients were significantly higher than in controls (22.00% vs. 6.00% for AC, p < 0.01; 18.67% vs. 8.00% for the C allele, p < 0.05). Hypertensive subjects with the AC genotype had increased carotid artery IMT and IMT/D (common carotid artery diameter) ratio compared with the AA genotype (IMT 1.14 +/- 0.39 vs. 0.88 +/- 0.16, p < 0.05; IMT/D 14.08 +/- 2.88 vs. 10.51 +/- 1.94, p < 0.01). CONCLUSION: These results suggest that the AGTR1 A1166C polymorphism is associated with essential hypertension and carotid atherosclerosis in a Chinese population.     

ACE and AT1R gene polymorphisms and hypertension in Indian population

The renin angiotensin system (RAS) controls intrarenal blood pressure and sodium balance, and is an important target for antihypertensive therapy. Several polymorphisms have been identified within genes encoding RAS that may contribute to the development of elevated blood pressure. The relevance of these polymorphisms in hypertension remains controversial. In this study we have examined 105 hypertensive subjects and 192 controls from the Indian population for I/D polymorphism of angiotensin I converting enzyme (ACE) and A(1166)C polymorphism of angiotensin II type I receptor (AT1R) genes by polymerase chain reaction (PCR) and PCR-based restriction enzyme analysis method, respectively. There was no significant difference in the distribution of ACE (I/I, I/D, and D/D) and AT1R (A/A and A/C) genotypes between controls and hypertensive subjects. D allele was significantly associated with an early onset of hypertension and although nonsignificant, the frequency was high in subjects with family history of cardiovascular disorders. C(1166) allele of AT1R did not correlate with the age of onset of hypertension and the frequency was low in subjects with family history. Thus no association was found between ACE and AT1R genotypes and hypertension. However the D allele can be used as a predictor of risk of hypertension in the Indian population.     

Influence of angiotensin II type 1 receptor polymorphism on hypertension in patients with hypercholesterolemia

Essential hypertension results from the combined influence of environmental and genetic factors. The relationship between angiotensin II type 1 receptor (AT(1)) A-C(1166) polymorphism and essential hypertension is controversial. Because it is accepted that high concentration of serum cholesterol is one of risk factors of atherosclerosis, we investigated the influence of the AT(1) A-C(1166) polymorphism on hypertension in patients with hypercholesterolemia. A total of 131 hypertensive, 97 borderline, and 175 normotensive subjects were enrolled in this study. We selected hypercholesterolemic subjects on the condition that their serum concentration of total cholesterol was >220 mg/dl, and obtained 55 hypertensive, 24 borderline, and 52 normotensive subjects with hypercholesterolemia. There were no significant differences in the genotype nor allele frequency between hypertensive and normotensive subjects in the overall population. However, the presence of the C allele of the AT(1) gene has a tendency to increase the value of systolic blood pressure not only in subjects with hypercholesterolemia but also in the overall population. Furthermore, we found a significant relationship between the AT(1) polymorphism and hypertension in subjects with hypercholesterolemia; i.e., the frequency of the C allele of the AT(1) gene was significantly higher in hypertensives than in normotensives (P<0.005). These results suggested that high concentration of total cholesterol was an important risk factor to the occurrence of essential hypertension for patients who carried the C allele of the AT(1) gene.     

Angiotensin II type-I receptor and ACE polymorphisms and risk of myocardial infarction in men and women

BACKGROUND: Findings relating an association between an insertion/deletion polymorphism of the angiotensin converting enzyme (ACE) gene and myocardial infarction (MI) have been mixed. While other loci, such as the angiotensin II type-I receptor (AT1R), may modulate risk, few studies have adequately documented the risk in women. We aimed to study whether the findings in respect of ACE and AT1R in UK men were borne out in women. METHODS: Cases of MI (305 women, 391 men) in Belfast and Glasgow have been compared to controls (291 women, 356 men). These new samples augment the original men (200 cases, 181 controls) included from Belfast in the ECTIM study. RESULTS: Among men, the odds ratio for MI for ACE (DD vs. ID + II) was 1.03 (0.79, 1.34) and among women, 0.69 (0.47, 1.01). This heterogeneity between the risks in men and women was significant in Glasgow (P = 0.02). Among men and women the odds ratio for MI for AT1R (CC vs. AC + AA) was 1.02 (0.71, 1.47). There was a small gradient in risk, such that the odds ratio for DD genotype was 0.86 (0.63, 1.17) among subjects homozygous for the common AT1R allele (AA): 0.94 (0.67, 1.30) among heterozygotes and 1.21 (0.53, 2.77) among CC subjects; but this interaction was not statistically significant. CONCLUSIONS: Some of the contradictory findings concerning the ACE polymorphism and the risk of MI may be due to heterogeneity in the risk between men and women. The AT1R1196 polymorphism is not an independent risk factor for MI in either sex.     

血管紧张素转换酶及血管紧张素Ⅱ1型受体基因多态性与乙型肝炎肝硬化的关系

目的研究血管紧张素转换酶（angiotensin-converting enzyme,ACE）及血管紧张素Ⅱ1型受体（angiotensin Ⅱ type 1 receptor,AT1R）基因多态性与乙型肝炎肝硬化之间的关联及其在乙型肝炎肝硬化的发生、发展中的作用。方法采用聚合酶链反应（polymerase chain reaction,PCR）及限制性片段长度多态性分析（restriction fragment length polymorphism,RFLP）检测技术,对115例乙型肝炎肝硬化患者和136例正常人群中的ACE（第16个intronI／D基因）ATlR（3＇-U TR 1166A／C）的基因多态性分布进行了检测。结果在ACE intron I／D基因多态性中各基因型在乙型肝炎肝硬化患者与正常人群中的差异无统计学意义（P〉0．05）;在乙型肝炎肝硬化患者中ACEI／D基因型的分布在有无腹水组间的差异有统计学意义,有腹水组ACED／D基因型的频率高于无腹水组（27．8％VS11．6％,Pd0．05）,两组ACE的D基因频率分布差异有统计学意义（47．2％VS31．4％,P〈0．05）;在乙型肝炎肝硬化患者中随着Child-Pauph分级的增高D／D基因型的比例逐渐增大（P〈0．05）;A、B、C3级中D基因频率分布差异有统计学意义（Pd0．05）。AT1R 1166A／C基因多态性在乙型肝炎肝硬化患者和正常人群中的差异无统计学意义（P〉0．05）。结论ACE的intron D／D基因型对于乙型肝炎肝硬化是不利因素,它可能与肝硬化患者腹水的形成相关,并可促进肝硬化的进展;而AT1R的1166A／C基因位点的变异尚未显示其与肝硬化有关。     

Polymorphisms in the renin–angiotensin system and endothelium‐dependent vasodilation in normotensive subjects

Background Our aim was to test the hypothesis that genes encoding components in the renin–angiotensin system influence endothelial vasodilatory function. Methods In 59 apparently healthy, normotensive individuals, endothelium‐dependent vasodilation (EDV) and endothelial‐independent vasodilation (EIDV) was evaluated by infusing metacholine and sodium nitroprusside into the brachial artery. Forearm blood flow was measured by venous occlusion plethysmography. The ACE insertion (I)/deletion (D) polymorphism, the T174M and M235T angiotensinogen restriction fragments length polymorphisms, the angiotensin II receptor type 1 (AT1R) A1166C, and the aldosterone synthase gene (CYP11B2) C‐344T polymorphisms were analysed. Results When analysing the ACE, the two angiotensinogen and the aldosterone synthase CYP11B2 genotypes independently, no significant association with endothelial vasodilatory function was found. However, a significant reduction in endothelium‐dependent vasodilation was observed in the subjects (n=9) with the ACE D allele and the angiotensinogen T174M genotype (P<0·05). Subjects with the AT1R genotype AC showed a reduction in both EDV (P=0·05) and EIDV (P=0·04) when compared with those with the AA genotype. Conclusions The subjects with the ACE D allele in combination with the angiotensinogen T174M genotype are associated with a reduced EDV. This together with the observation that the AC AT1R genotype is associated with a reduction in both EDV and EIDV, supports the hypothesis that endothelial vasodilatory function is influenced by genes in the renin–angiotensinogen system.     

Clinico-genetic aspects of the hypotensive response and regression of left ventricular hypertrophy in arterial hypertension patients

AIM: To study clinicogenetic determinants of left ventricular hypertrophy (LVH) regress in 52-week antihypertensive therapy to achieve the target arterial pressure (AP) < 140/90 mm Hg. MATERIAL AND METHODS: I/D-polymorphism of angiotensin converting enzyme gene, T174M-polymorphism of angiotensinogen gene, A1166C-polymorphism of angiotensin II ATI-receptor gene (ATII), 4a/b-polymorphism of endothelial NO-synthetase gene (eNOS) were determined in 64 patients (24 males, 40 females, mean age 54 +/- 1.1 years) with arterial hypertension (AH) and LVH. Echocardiography, laboratory tests, clinical measurements of blood pressure (BP) and 24-h AP monitoring were made after 4 weeks of placebo and 52 weeks of treatment. RESULTS: Baseline values of LV myocardium mass index (LVMMI) correlated significantly with mean 24 hour and night systolic arterial pressure; 24-h, day and night pulse pressure (PP). In patients with regress of LVH the degree of LVMMI reduction significantly correlated with lowering of day and night PP, baseline level of neutrophils, uric acid and creatinine 52 weeks after treatment. Groups made by polymorphism, did not significantly differ by initial LVMMI, frequency of achievement of target AP. In patients with genotypes ID/II and aa, the level of achieved diastolic arterial pressure was significantly lower than in other groups. Resistant LVH was seen in 42.2% patients. Frequency of AP normalization was higher in the group of patients with LVH regress (48.6% vs 25.9%; p < 0.05). Resistant LVH occurred more frequently in patients with genotype DD (64.0 vs 28.2% in patients with II/ID, p < 0.05) and in patients with genotype 4ab (62.9 vs 30.4% in patients with genotype aa and 21.4%--with genotype bb; p < 0.05 in both cases). In patients with resistant LVH frequency of DD genotype increased (59.3 vs 24.3% in patients with regress of LVH; p < 0.01), genotype AA (74.5 vs 48.6%; p < 0.01) and genotype ab (63.0 vs 27.0%, p < 0.01). CONCLUSION: Regress of LVH in AH patients depends on dynamics and complex interactions of some hemodynamic, laboratory and genetic parameters.     

Synergistic effect between apolipoprotein E and angiotensinogen gene polymorphisms in the risk for early myocardial infarction

BACKGROUND: Several studies based on different populations worldwide have described an association between cardiovascular diseases and genetic variations in the apolipoprotein E (A:POE), angiotensinogen (A:GT), angiotensin receptor type 1 (A:T1R), and angiotensin-converting enzyme (A:CE) genes. In addition, there is growing evidence of an interaction between hypercholesterolemia and the renin-angiotensin system in the risk for hypertension and atherosclerosis. METHODS: To determine whether the DNA polymorphisms in A:POE (epsilon2, epsilon3, and epsilon4 alleles), A:GT (M235T), A:T1R (1166 A:/C:), and ACE (I:/D:) are associated with early onset of myocardial infarction (MI), we genotyped 220 patients and 200 controls <55 years of age. Patients and controls were males from the same homogeneous Caucasian population. Data concerning hypertension, diabetes, and tobacco consumption were recorded. The lipid profiles of patients and controls were also determined. RESULTS: APOE, ACE, AGT, and AT1R allele and genotype frequencies did not differ between patients and controls. None of these polymorphisms was related to the biochemical values in patients or controls. The frequency of individuals who were both APOE epsilon4 allele carriers and AGT-TT homozygotes was significantly higher in patients than in controls (11% vs 3.5%; P: = 0.0037). In patients, the frequency of epsilon4 carriers was significantly higher (P: <0.00001) in those who were AGT-TT (46%) than those who were AGT-MT/MM (14%). Mean cholesterol was significantly higher in AGT-TT + APOE epsilon34/44 patients than in the TM/MM + epsilon34/44 or TT + epsilon23/33 genotypes (P: = 0. 029). CONCLUSIONS: Our data suggest a synergistic effect between the APOE and AGT polymorphisms and early MI. The increased risk could be mediated in part through higher cholesterol concentrations among individuals who are AGT-TT + APOE epsilon4 allele carriers.     

Htra2基因内含子5-59A/G位点多态性与帕金森病的相关性研究

目的探讨粤西地区汉族人群中Htra2（又被称作Omi）基因内含子5-59A/G位点(rs2241027)的单核苷酸多态性（SNP）与帕金森病（PD）的相关性。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56例PD患者和109例健康人的Htra2基因内含子5-59A/G位点多态性的基因型。结果病例组A等位基因频率(46.4%)倾向高于对照组（36.7%）（P=0.073）;AA基因型频率（21.4%）亦倾向高于对照组（11.0%）（P=0.072）。经性别分层分析发现,男性AA基因型频率（25.7%）高于对照组（10.3%）(P=0.041);病例组A等位基因频率（48.6%）倾向高于对照组（34.6%）(P=0.051)。结论5-59A/G位点等位基因A和AA基因型均可能增加PD的发病风险,特别是男性。