PON1 L55M polymorphism is not a predictor of coronary atherosclerosis either alone or in combination with Q192R polymorphism in an Italian population

BACKGROUND: The present study evaluated the role of the PON1 L55M polymorphism independently and in conjunction with the Q192R polymorphism on the risk of coronary atherosclerosis in an Italian population. MATERIALS AND METHODS: Three hundred and ninety-one subjects with significant coronary stenosis (> 50%) (coronary artery disease-positive; CAD+), 196 subjects with normal coronary arteries (< 10% stenosis) (CAD-) and 178 healthy controls were screened using a combination of polymerase chain reaction and restriction enzyme digestion. RESULTS: In the pooled population, the frequencies of L and M alleles were 0.63 and 0.37, respectively; the most common haplotypes were QQ/LM (24.2%) and QR/LL (21.8%) and a strong linkage disequilibrium between L/55 and R/192 alleles was observed (D' = -0.91; P < 0.0001). CAD+ subjects did not show any significant differences in the distribution of PON1-55 genotypes as compared to CAD- subjects and population controls (chi2 = 1.5, P = 0.8). After controlling for other risk factors, the low-concentration M allele was not associated with a significant change of CAD risk (OR 1.02; 95% CI 0.80-1.29; P = 0.87). Moreover, the L55M polymorphism did not show any interaction with other risk factors such as smoking, diabetes, hypertension, low levels of high-density lipoprotein (HDL) or high ratios of low-density to high-density lipoproteins. The combination of L55M with the Q192R polymorphism did not show any effect on CAD risk. However, a marginal decrease in myocardial infarction risk was detected when QQ/MM carriers (OR 0.51; 95% CI 0.26-0.99; P = 0.048), but not LL/RR carriers, were compared with subjects not homozygous for an L or R allele. CONCLUSIONS: These findings did not indicate a major effect of the PON1 L55M polymorphism, either alone or in combination with the Q192R polymorphism, on CAD risk. Additional studies are needed for a better evaluation of the role of the 55/192 PON1 genotypes in combination on myocardial infarction risk.     

Polymorphisms of genes affecting thrombosis and risk of myocardial infarction

BACKGROUND: As thrombosis is an essential factor in the pathogenesis of acute myocardial infarction (AMI), the genes of proteins affecting haemostasis are good candidate genes for AMI. DESIGN: Associations of the known polymorphisms of the coagulation factor VII (FVII) gene (R353Q), the coagulation factor XIII (FXIII) gene (V34L) and the glycoprotein Ia (Gp1a) gene (C807T) with the occurrence of AMI were studied in 142 AMI survivors and 142 age- and sex-matched control subjects. RESULTS: Among those who smoked, the L34 allele of the amino acid FXIII polymorphism was less common in the AMI patients (16%) than in the controls (27%) (P = 0.06), suggesting a possible interaction of AMI risk between the FXIII genotype and smoking status. No differences in the allele or genotype frequencies of the studied polymorphisms were seen between the whole study groups. Logistic regression analysis showed the carriers of the L34 allele of the FXIII amino acid polymorphism to have a significantly (P = 0.03) lower AMI risk compared with those homozygous for the V34 allele (odds ratio = 0.54, 95% confidence interval 0.31-0.93). CONCLUSION: The L34 allele of the amino acid polymorphism of the FXIII gene is associated with a decreased risk of AMI, and this protecting association seems to be more pronounced in smokers.     

对氧磷酶2 311和纤维蛋白原β-455基因多态性与动脉粥样硬化性血栓性脑梗死的相关性

目的 探讨对氧磷酶2（PON2）311、纤雏蛋白原β链（Fgβ）-455基因多态性与动脉粥样硬化性血栓性脑梗死（ACD的关系。方法 采用病例．对照研究方法，应用聚合酶链反应、聚合酶链反应．限制性片段长度多态性技术对108例ACI患者、75例无栓对照者及123例正常对照者的PON2 C311S和Fgβ-455G／A基因多态性进行检测，分析其基因型和等位基因频率。结果 ACI患者中PON2 311C等位基因频率显著高于正常人（P=0．0007），可能影响了该酶蛋白的功能；ACI患者中Fgβ-455A等位基因频率显著高于正常人（P=0．0464），可能影响了血浆纤雏蛋白原的功能。结论 PON2第9外显子311C等位基因和Fgβ-455A等位基因与脑梗死的发生相关。     

CD40基因启动子区-1C／T多态性与早发急性心肌梗死的相关性研究

目的：研究我国湖北十堰地区汉族人群CD40基因启动子区-1C／T多态性与早发急性心肌梗死（AMI）的相关性．方法：应用流式细胞仪俭测161例早发AMI患者和186名健康对照者的B淋巴细胞CD40表达水平；用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）检测CD40基因启动子区-1C／T多态性的基因型频率分布；应用酶联免疫吸附试验检测血清可溶性CD40配体（sCD40L）水平；应用微粒子增强透射免疫分析技术检测血清超敏C-反应蛋白（hs-CRP）水平？结果：早发AMI患者B淋巴细胞CD40表达水平高于对照组，且差异有统计学意义（平均荧光强度为6．81±2．16比2．08±1．19．P〈0．01）：而其血清sCD40L及hs-CRP也均较对照组升高，差异有统计学意义（P均〈0．01）。基因型分布在早发AMI组（CC=34.2％、CT=54．7％、TT=11．1％）与对照组（CC=23．7％、CT=56．9％、TT：19．4％）的差异有统计学意义（P〈0．05）：早发AMI组C等位基因频率高于对照组，差异有统计学意义（61．5％比52．2％，OR=L465，95％CI：1．082-1．983，P〈0．05）；B淋巴细胞CD40表达水平在CC、CT、TT各基因型间差异也有统计学意义（P〈0．05）。结论：CD40基因启动子区-1C／T多态性可能与我国湖北十堰地区汉族人群早发AMI的发生有关。     

CYP2J2基因多态性和吸烟的交互作用及其对心肌梗死的影响

目的探讨CYP2J2基因多态性和吸烟的交互作用及其与心肌梗死（MI）的相关性。方法采用聚合酶链反应-限制性片段长度多态性方法,对85例MI患者（MI组）和85例健康体检者（对照组）CYP2J2基因标签SNP进行分析,并分析其多态性和吸烟的交互作用及其与MI的关系。结果 CYP2J2基因型分布符合Hardy-Weinberg平衡;TT、GT、GG基因型频率在MI组中分别为3.5%、4.7%、91.8%,在对照组为1.2%、3.5%、95.3%,两组之间基因型分布差异无统计学意义（P〉0.05）;CYP2J2基因多态性和吸烟的交互作用分析显示,以GG基因型（野生型）不吸烟者作为基线（OR=1）,则GG基因型吸烟者发生MI的风险增加1倍（OR=2.0）,而携带非GG基因型（突变型）的吸烟者发生MI的风险增加了7.7倍（OR=8.7）;Logistic回归分析结果显示,在调整了年龄、性别、高血压、糖尿病、高胆固醇血症等传统危险因素之后,吸烟和CYP2J2基因多态性之间的交互作用是MI发生的重要危险因素。结论 CYP2J2基因多态性和吸烟的交互作用增加MI的风险。     

Stromelysin-1 promoter 5A/6A polymorphism is an independent genetic prognostic risk factor and interacts with smoking cessation after index premature myocardial infarction

OBJECTIVE: To evaluate the prognostic roles of multiple polymorphisms and smoking cessation for premature myocardial infarction (MI). METHODS: We studied 170 patients with MI onset before the age of 45 years (range 27-45 years, 84% men) and analyzed the traditional risk factors and several candidate genes' associations with their subsequent coronary events. RESULTS: Follow-up data were available for a total of 162 individuals (95.3%) with the other 38 individuals (4.7%) being lost-to-follow-up premature MI patients. During a mean period of 4.43 years' follow-up, diabetes mellitus (DM), hypertension, hypercholesterolemia and Killip's status > or =II were more frequent among patients with subsequent cardiac events (all P-values <0.05). The frequency of 5A allele of stromelysin-1 gene was significantly higher among event group (P = 0.01). Smoking cessation after MI, use of beta-blocker or angiotensin-converting enzyme inhibitor (ACEI) could improve outcome (all P-values <0.05). After multivariate analysis, we found that DM was an independent risk factor for survival [Hazard ratio (HR) 2.45, P = 0.01]. Successful smoking cessation and therapy with ACEI could have a protective effect (HR 0.33 and 0.09, P = 0.01 and <0.01, respectively). The stromelysin-1 5A gene polymorphism was also an independent survival predictor (HR 2.51, P = 0.03). In addition, smoking cessation could significantly modify the risk, especially among patients with 5A allele polymorphism (HR 6.75 vs. 1.50). CONCLUSION: We thus conclude that the stromelysin-1 gene polymorphism alone or in combination with smoking cessation can influence the prognosis after index premature MI.     

血管紧张素-1转换酶基因多态性与急性心肌梗死的相关性研究

目的　研究血管紧张素 - 1转换酶 (ACE)基因多态性与急性心肌梗死 (AMI)的相关性。方法　本研究选择了1999～ 2 0 0 0年间在我院住院的 14 0例AMI患者 ,连续地挑选 5 7例非心肌梗死患者作为对照组 ,进行相应的临床观察及实验室检查 ;并从外周血中提取基因组DNA ,利用聚合酶链式反应的方法对ACE基因进行分型。结果　 14 0例AMI患者中ACEDD型百分比明显高于ID、II的患者 (P <0 0 0 0 5 ) ;D等位基因频率显著增高。结论　ACEDD型的AMI患者与Ⅱ、ID型的患者相比 ,有较高的AMI发生率 ;且D等位基因与AMI的发生有显著的相关性     

急性无Q波心肌梗死和Q波心肌梗死早期冠状动脉造影的比较

目的　探讨急性无Q波心肌梗死 (ANQMI)和急性Q波心肌梗死 (AQMI)在发病最初 6h内冠状动脉病变的性质、血栓及侧支循环形成情况的不同 ,为进一步治疗提供理论基础。方法　对 5 2例AN QMI患者和 130例AQMI患者在发病 6h内进行选择性冠状动脉造影 ,比较两组在冠状动脉造影所见中的不同特点 ,并对他们的发病年龄、临床症状、心肌酶变化特点等情况进行。结果　与AQMI比较 ,ANQMI发病年龄较高 ,临床中常缺乏特征性的胸痛症状。冠状动脉造影所见中 ,相关的冠状动脉完全性闭塞在ANQ MI组为 2 8 9% (15 / 5 2 ) ,在AQMI组为 86 9% (113/ 130 ) ;ANQMI组血栓存在为 15 1% (8/ 5 2 ) ,AQMI组为73 9% (96 / 130 ) ;ANQMI组侧支循环形成 4 0 4 % (2 1/ 5 2 ) ,AQMI组 13 9% (18/ 130 ) ;ANQMI组多支病变为 5 1 9% (2 7/ 5 2 ) ,AQMI组为 4 0 0 % (5 2 / 130 )。以上 P<0 0 5。结论　与AQMI组比较 ,ANQMI在发病最初 6h内完全性闭塞发生率低 ,血栓存在率低 ,侧支循环较丰富 ,多支病变发生率较高。因此 ,对于ANQ MI早期溶栓治疗可能不会收到理想的效果 ,而应尽早采用其他冠脉介入性治疗     

心肌梗死患者对氧磷酶-1 Q/R192基因多态性及活性检测的临床意义

目的探讨心肌梗死（AMI）患者对氧磷酶-1（PON1）Q/R192基因多态性及其活性检测的临床意义。方法分别采用紫外线分光光度法和聚合酶链式反应-限制性片段长度多态性（PCR-RELP）法检测65例AMI患者和70名健康体检者PON1活性及PON1Q/R192基因多态性。结果 AMI组血清PON1活性[（78.56±16.69）U/mL]明显低于健康对照组[（118.65±30.25）U/mL]（P〈0.01）。AMI组与健康对照组3种基因型及2种等位基因频率分布差异无统计学意义（P〉0.05）;AMI组与健康对照组间不同PON1 Q/R192基因型间血清PON1活性相比差异有统计学意义（P〈0.01）;AMI组内及健康对照组内PON1 Q/R192不同基因型间血清PON1活性相比差异无统计学意义（P〉0.05）。结论血清PON1活性降低是AMI的危险因素之一;PON1Q/R192基因多态性与AMI的发生无相关性。     

半胱氨酸蛋白酶抑制剂C基因G 73A位点的多态性与急性心肌梗死关系的探讨

目的探讨半胱氨酸蛋白酶抑制剂C（Cys C）基因外显子＋73G/A（简称G73A）位点变异与急性心肌梗死（AMI）的关系;同时观察池州地区汉族AMI患者血浆Cys C浓度的变化。方法采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）法分析112例AMI患者和110名健康对照者全血DNA中Cys C基因G73A位点变异的多态性分布情况,同时检测AMI组和对照组血浆Cys C浓度。结果AMI患者血浆Cys C浓度明显低于对照组（P〈0.05）。在AMI患者组中,G73A位点GG/GA/AA基因型频率分别为64.3%、28.6%和7.1%,G等位基因频率为78.6%;对照组G73A位点GG/GA/AA基因型频率分别为67.3%、28.3%和4.5%,G等位基因频率为81.4%,2组比较差异无统计学意义（P〉0.05）。结论Cys C水平的降低可能是AMI发病的危险因素之一;池州地区汉族AMI患者和正常人群中存在Cys C基因G73A位点变异的多态性,这个位点发生变异可能对AMI疾病的的发生不起主要作用。     

eNOS基因894G/T多态性与心肌梗死的相关性研究

目的研究内皮型一氧化氮合酶(eNOS)基因894G/T多态性与新疆维吾尔族人群心肌梗死的相关性。方法选取新疆维吾尔族心肌梗死患者191例和165例对照者,采用Taqman实时荧光定量聚合酶链反应检测eNOS基因894G/T多态性,分析894G/T多态性与新疆维吾尔族人群心肌梗死的关系。结果维吾尔族心肌梗死组及对照组的等位基因频率及各基因型均未发现差异有统计学意义(P>0.05)。结论 eNOS基因894G/T多态性与新疆维吾尔族人群心肌梗死可能无相关性。     

心肌梗死患者对氧磷酶-1 Q/R192基因多态性及活性检测的临床意义

目的探讨心肌梗死(AMI)患者对氧磷酶-1(PON1)Q/R192基因多态性及其活性检测的临床意义。方法分别采用紫外线分光光度法和聚合酶链式反应-限制性片段长度多态性(PCR-RELP)法检测65例AMI患者和70名健康体检者PON1活性及PON1Q/R192基因多态性。结果 AMI组血清PON1活性[(78.56±16.69)U/mL]明显低于健康对照组[(118.65±30.25)U/mL](P<0.01)。AMI组与健康对照组3种基因型及2种等位基因频率分布差异无统计学意义(P>0.05);AMI组与健康对照组间不同PON1 Q/R192基因型间血清PON1活性相比差异有统计学意义(P<0.01);AMI组内及健康对照组内PON1 Q/R192不同基因型间血清PON1活性相比差异无统计学意义(P>0.05)。结论血清PON1活性降低是AMI的危险因素之一;PON1Q/R192基因多态性与AMI的发生无相关性。     

Acute myocardial infarction presenting as flank pain and tenderness: Report of a case

Studies have demonstrated that 4% to 10% of patients with chest pain and acute myocardial infarction (AMI) are discharged from the emergency department. The patient with an atypical presentation of AMI is difficult to diagnose and has been demonstrated to have an associated increased risk of morbidity and mortality. A case is reported of a patient with AMI presenting to the emergency department with flank pain and tenderness, mimicking acute renal colic.     

E-选择素基因SER128ARG多态性与急性心肌梗死易感的相关性研究

目的 探讨E-选择素基因SER128ARG(S128R)多态性在急性心肌梗死(AMI)患者和正常人群中的分布特点及与AMI的易感相关性,以及对血清E-选择素水平的影响.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168例AMI患者和200例健康对照者E-选择素基因多态性,同时采用酶联免疫吸附试验(ELISA)法检测所有参与者血清E-选择素水平.结果 E-选择素基因S128R基因型频率和等位基因频率,在AMI组和对照组的分布差异有统计学意义(P＜0.05);基因型频率的相对风险分析发现,SR杂合子基因型携带者患AMI的风险是SS纯合子基因型的2.234倍(OR=2.234,95%CI:1.112～4.437);AMI组血清E-选择素水平明显高于对照组(P＜0.05);SR杂合子基因型携带者血清E-选择素水平显著高于SS纯合子基因型(41.65±8.87)μg/L和(34.23±6.72)μg/L,P＜0.05.结论 E-选择素S128R基因多态性与AMI的发病有关联,并影响血清E-选择素水平;提示R基因可能是AMI发病的遗传易感基因.     

同型半胱氨酸与稳定型心绞痛及急性心肌梗死的相关性

目的 探讨血清同型半胱氨酸(HCY)水平与稳定型心绞痛(SAP)及急性心肌梗死(AMI)的关系.方法 选取2012年2月-2013年3月本院收治的SAP患者50例,AMI患者70例及体检健康者60例,比较各组血清HCY水平及HCY阳性率.结果 SAP组和AMI组血清HCY水平及HCY阳性率明显高于对照组,AMI组明显高于SAP组(P＜0.05).CHD组血清HCY明显高于对照组,且60岁以上年龄组的血清HCY水平明显高于60岁以下年龄组(P＜0.05).结论 血清HCY与SAP、AMI及年龄关系密切,血清HCY可有效地反映冠心病的程度及预后.     

The association of plasma oxidative status and inflammation with the development of atrial fibrillation in patients presenting with ST elevation myocardial infarction

Atrial fibrillation (AF) is the most common supraventricular arrhythmia following ST elevation myocardial infarction (STEMI). Oxidative stress and inflammation may cause structural and electrical remodeling in the atria making these critical processes in the pathology of AF. In this study, we aimed to evaluate the association between total oxidative status (TOS), total antioxidative capacity (TAC) and high-sensitivity C-reactive protein (hs-CRP) in the development of AF in patients presenting with STEMI. This prospective cohort study consisted of 346 patients with STEMI. Serum TAC and TOS were assessed by Erel’s method. Patients were divided into two groups: those with and those without AF. Predictors of AF were determined by multivariate regression analysis. In the present study, 9.5% of patients developed AF. In the patients with AF, plasma TOS and oxidative stress index (OSI) values were significantly higher and plasma TAC levels were significantly lower compared to those without AF (p?=?.003, p?=?.002, p?p?=?.01), left atrial diameter (OR =1.28; 95% CI =1.12–1.47; p?p?=?.001) and OSI (OR =1.10; 95% CI =1.04–1.18; p?=?.001) were associated with the development of AF in patients presenting with STEMI. The main finding of this study is that oxidative stress and inflammation parameters were associated with the development of AF in patients presenting with STEMI. Other independent predictors of AF were female gender, left atrial diameter and hs-CRP.     

中青年与老年急性心肌梗死临床特点和危险因素对比分析

目的探讨中青年人和老年人急性心肌梗死(AMI)的临床特点及危险因素的差异,以提高防治效果.方法将187例AMI患者按年龄分为中青年组42例(≤45岁)和老年组145例(≥60岁),比较分析两组间发病的危险因素及性别、梗死部位、并发症的特点.结果临床特点:中青年组女性仅2.4%,老年组女性占46.9%.梗死部位中青年组以前壁、前间壁最多,老年组以广泛前壁为多.并发症老年组明显高于中青年组.危险因素:冠心病家族史和吸烟者中青年组分别为52.4%、83.3%,老年组分别为6.2%、44.1%,两组比较差异有统计学意义(P<0.005);高血压、糖尿病者中青年组分别为33.3%、2.4%,老年组分别为67.6%、18.6%,两组比较差异有统计学意义(P<0.01).血脂水平两组比较差异无统计学意义(P>0.05),但两组均>55%.结论冠心病家族史、吸烟、男性是中青年人AMI的主要危险因素.     

Thioredoxin as a novel sensitive marker of biological stress response in smoking

Thioredoxin is a low molecular weight (approximately 12 kDa) redox protein, and protects against harmful stimuli such as oxidative stress. Smoking evokes oxidative stress, among other biological responses. The clinical relevance of thioredoxin in smoking has not been fully investigated. Here, we examined the effects of smoking on serum and urinary thioredoxin levels, in comparison with various stress markers. Serum thioredoxin levels in the smoking group (10 subjects) were significantly higher than those of the non-smoking group (5 subjects). After smoking, serum thioredoxin levels significantly decreased, while urinary levels significantly increased. On the other hand, the levels of serum and salivary cortisol, plasma norepinephrine, salivary amylase, salivary thioredoxin, and urinary 8-hydroxy-2''-deoxyguanosine levels before and after smoking were not significantly different. These results suggest that a decrease in thioredoxin in the serum and the concomitant increase in the urine is a novel sensitive marker of biological stress responses induced by smoking. The change seems to be evoked by mechanisms different from hormonal or 8-hydroxy-2''-deoxyguanosine-forming stress responses.     

Thunderclap headache as the presenting symptom of myocardial infarction

Headache as the presenting symptom of myocardial ischemia has been reported in more than 20 cases. These headaches have been described as of gradual onset, associated with exertion and with EKG changes. We present herein the first case of thunderclap headache occurring at rest as the sole symptom of an acute myocardial infarction.