CYP4F2基因单核苷酸多态性与日本心肌梗死的相关性研究

目的:研究在日本不同性别中,CYP4F2基因单核苷酸多态性与心肌梗死的关系。方法:234例心肌梗死患者和248例年龄匹配的对照分别分为整体组,男性组,女性组。选择CYPF2基因的5个SNPs(rs3093105、rs3093135、rs1558139、rs2108622、rs3093200),应用TaqMan SNP基因分型的方法进行基因分型,并应用病例对照分析的方法进行相关性研究。结果:对于男性,心肌梗死患者rs2108622的G等位基因频率远远高于对照(P=0.001)。结论:CYP4F2基因rs2108622的G等位基因与日本男性心肌梗死相关,可做为日本男性心肌梗死的易感基因标记。     

Alzheimer病及多梗塞性痴呆患者血清载脂蛋白A I、B100、E水平及apoE多态性分析

目的 探讨中国人血清载脂蛋白（apo)AI、B100、E水平及apoE多态性与Alzheimer病（AD）及多梗塞性痴呆（MID）的关系。方法 采用单向免疫扩散法及等电聚焦免疫印迹分析法对75例AD、36例MID和60例对照受检者的血清apoA I、B100、E及apoE多态性进行了分析。结果 AD组及MID组apoE表型E4（E4／4＋E3／4＋E2／4）的频率分别为0．3466和0．3889,较对照组的0．1167明显为高（P＜0．05）,ε4等位基因频率分别为0．2333和0．2083,均明显高于对照组（0．0666）（P＜0．05）,AD组ε2等位基因频率低于对照组（0．0467vs 0．0833,P＜0．05）;AD组及MID组患者血清apoA I及E水平明显低于对照组（P＜0．001,P＜0．05）。结论 apoEε4等位基因与中国人AD和MID有关联,AD及MID患者血清apoA I及E水平明显降低（P＜0．001及P＜0．05）。     

动脉粥样硬化性脑梗死患者载脂蛋白E基因多态性研究

目的 :探讨载脂蛋白E(ApoE)基因多态性与动脉粥样硬化性脑梗死的关系。方法 :以聚合酶链反应 -限制性片段长度多态性 (PCR -RFLP)技术结合银染色方法检测了 40例动脉粥样硬化性脑梗死 (ACI)患者和 90例无血缘关系的健康汉族人群载脂蛋白E基因型。结果 :ACI组ε4 等位基因频率明显高于对照组 (P <0 .0 1) ,ε3等位基因频率明显低于对照组 (P <0 .0 1)。结论 :ε4 等位基因是动脉粥样硬化性脑梗死的遗传易患因子之一 ,ε3等位基因是动脉粥样硬化性脑梗死的保护因子。     

Myocardial infarction in young adults

Although myocardial infarction (MI) mainly occurs in patients older than 45, young men or women can suffer MI. Fortunately, its incidence is not common in patients younger than 45 years. However, the disease carries a significant morbidity, psychological effects, and financial constraints for the person and the family when it occurs at a young age. The causes of MI among patients aged less than 45 can be divided into four groups: (1) atheromatous coronary artery disease; (2) non-atheromatous coronary artery disease; (2) hyper-coagulable states; (4) MI related to substance misuse. There is a considerable overlap between all the groups. This article reviews the literature and highlights the practical issues involved in the management of young adults with MI.     

APOLIPOPROTEIN E GENE POLYMORPHISMS AND RISK FOR CORONARY ARTERY DISEASE IN CHINESE XINJIANG UYGUR AND HAN POPULATION

Objective To examine the relationship between apolipoprotein E (Apo E) gene polymorphism and risk of coronaryartery disease (CAD), analyzing association of polymorphism with classical risk factors.Methods A total of 124 patients (including 84 Han population and 40 Uygur population) with angiographically verified CAD or myocardial infarction were prospectively evaluated. Data referring to hypertension, diabetes, and tobacco consumption were recorded. The levels of total cholesterol (TC), high density lipoprotein (HDL) cholesterol, Apo A1 and B, and triglycerides (TG) were determined. DNA was obtained from 124 patients and 70 controls. In order to determine Apo E genotypes, DNA was PCR amplified and digested with HhaI. The genetic polymorphism of Apo E is due to three common alleles, epsilon (ε) 2, ε3, ε4, at a single autosomal gene locus. These alleles determine the six phenotypes E2/2, E3/3, E4/4,E4/2, E4/3, and E3/2.Results In Uygur population, the frequency of the ε2, ε3, and ε4 was 0.155, 0.648, and 0.197 respectively. In Han population, the frequency of the ε2, ε3, and ε4 was 0.081, 0.772, and 0.146 respectively. In the patient group, the frequency of the ε2, ε3, and ε4 was 0.060, 0.758, and 0.182 respectively. In the control group, the frequency of the ε2, ε3, and ε4 was 0.193, 0.671, and 0.136 respectively. ε2 frequency of Uygur' patients and controls was 0.050 and 0.290 respectively. Serum low density lipoprotein (LDL) cholesterol, TC, and TG values tended to decrease from the Apo E-4 phenotypes to Apo E-2phenotypes. When deletion polymorphism ofε2 was compared with the common risk factors for CAD, its risk ratio (RR) is 4.38.Conclusions These studies confirm and find that Apo E phenotype distribution in Uygur population differs significantly from that in Han population in Xinjiang. CAD patients have significantly lower ε2 allele and slightly higher ε3 or ε4 allele frequency than controls, especially in Uygur population. It shows protective effects ofε2 on CAD.     

载脂蛋白E基因多态性与血脂关系研究

人类载脂蛋白E(ApoE)基因具多态性,3种等位基因ε2、ε3、ε4,编码3种异构体E2、E3、E4。ApoE在脂质代谢中起重要调节作用,其基因多态性可能与血脂异常症的发生有关。近年来,人们利用分子生物学技术对人群中ApoE基因多态性与血脂关系进行了广泛研究,对ApoE基因多态性的分析,可能对预测血脂异常症的发生有重要临床意义。现综述ApoE基因多态性在此领域的研究进展。     

冠心病痰瘀证与载脂蛋白E基因多态性关系的研究

目的:探讨冠心病(coronary heart disease, CHD)不同痰瘀证候与载脂蛋白E(apolipoprotein E, ApoE)基因第4外显子多态性的关系.方法:选择符合条件的CHD痰证、瘀证、痰瘀互阻证和非痰非瘀证(其他证型)患者200例,另选100名健康志愿者作为对照.常规检测所有样品的血脂水平.提取全血DNA,用聚合酶链反应-限制性片段长度多态性(polymerase chain reaction-restriction fragment length polymorphism, PCR-RFLP)技术检测ApoE基因型.采用SAS软件对基因多态性和痰瘀证候的辨证类型进行相关性分析.结果:(1)冠心病患者中ε4等位基因频率(19.5%)明显高于健康对照组(9.5%),具有统计学意义(P<0.05),其中尤以E 3/4基因型更为多见(P<0.01).(2)携带ε4等位基因者的总胆固醇(total cholesterol, TC)、总甘油三酯(total triglycerides, TG)和低密度脂蛋白胆固醇(low-density lipoprotein cholesterol, LDL-C)水平明显高于非携带者(P<0.01).(3)痰证特别是E3/4基因型患者中E3/4型和ε4等位基因的频率明显高于血瘀证患者(P<0.05).结论:ApoE ε4等位基因是冠心病的危险因素,携带此基因的患者与痰证关系较为密切,推测其可能是CHD痰证的主要易感基因之一.     

Association of G＋1688A Polymorphism of Platelet Endothelial Cell Adhesion Molecule-1 Gene with Myocardial Infarction in the Chinese Han Population

In order to investigate the association of G＋1688A （Ser563Asn） polymorphism of platelet endothelial cell adhesion molecule-1 （PECAM-1） gene with myocardial infarction （MI） in the Chinese Han population, the G＋1688A polymorphism in PECAM-1 gene was detected by polymerase chain reaction-restriction fragment-length polymorphism （PCR-RFLP） method among 502 subjects, including 218 patients with MI and 284 controls. The results showed that there was significant difference in AA frequencies of genotype G＋1688A polymorphism between case and control groups （39% vs 24%, P〈0.001）. A similar trend was observed on the allele frequencies （A/G： 62% vs 49%, P〈0.001）. Among the subjects with high serum total cholesterol level or high systolic blood pressure level, the variant AA genotype was associated with high risk of MI （adjusted OR, 2.13; 95% CI, 1.08 -4.41 and adjusted OR, 2.53; 95%CI, 1.63-3.63）. The single nucleotide polymorphism （SNP） at position ＋1688 in the exon 8 of PECAM-1 gene was associated with MI and the allele A might be a risk factor for MI in the Chinese Han population.     

心肌梗死患者及同胞血脂异常ApoE基因多态性分析

目的　评估心肌梗死(MI)患者及其同胞的冠心病易患因素及血脂异常相关基因ApoE的多态性。方法　对65例确诊为MI的男性患者、141例同性别健康同胞及47例年龄、性别相匹配的健康人进行流行病学问卷调查及临床检查,并从分子遗传学角度进行血脂异常相关基因ApoE多态性的检测,探索其与MI血脂异常的关系。结果　（1）MI组与同胞组总胆固醇(TC)（分别为5.0mmol/L±1.8mmol/L、4.8mmol/L±1.4mmol/L）、甘油三酯(TG)（分别为2.2mmol/L±1.7mmol/L、1.97mmol/L±0.26mmol/L）、低密度脂蛋白胆固醇(LDL-C)、TC/HDL-C比值均显著高于对照组（3.5mmol/L±0.9mmol/L、1.1mmol/L±0.9mmol/L),其中MI组BMI、LDL-C、TC/HDL-C比值明显高于同胞组;（2）BMI>25kg/m     

环氧化酶-2基因-765G>C多态性与新疆维吾尔族心肌梗死的相关性研究

目的:探讨环氧化酶2(Cycloxygenase,COX-2)基因-765G>C多态性与新疆维吾尔族心肌梗死的相关性。方法:采用聚合酶链反应-限制性片段长度多态性方法,对新疆维吾尔族178例心肌梗死患者和175例健康体检者COX-2基因-765G>C多态性进行检测,同时进行血压和生化指标的测定。结果:COX-2基因-765GG基因型在心肌梗死组为78.65%,明显高于对照组(55.43%),差异具有统计学意义(P<0.01),但-765GC和-765CC基因型在心肌梗死组分布频率(19.66%和1.69%)明显低于健康对照组(34.86%和9.71%),差异具有统计学意义(P<0.05或P<0.01),且等位基因频率差异亦有统计学意义(P<0.01)。结论:COX-2基因-765G>C多态性可能是新疆维吾尔族人群心肌梗死发生的保护因子。     

血管紧张素Ⅱ受体1基因多态性与高血压合并心肌梗死发生的相关性

目的:探讨人血管紧张素Ⅱ受体1(AGTR1)A1166C多态性和高血压合并心肌梗死的关系.方法:采用聚合酶链反应-限制性片段长度多态性技术,检测并比较AGTR1多态性在健康体检成人(正常组,121名)、高血压病人(高血压组,105例)、高血压合并心肌梗死病人(合并组,95例)中的分布情况.结果:正常组、高血压组和合并组...     

心肌梗死和脑梗死病人载脂蛋白a五核苷酸重复序列基因多态性及与血浆脂蛋白(a)水平的关系

目的　探讨载脂蛋白apo(a)五核苷酸重复序列 (PNTR)基因多态性在心肌梗死、脑梗死病人中的分布情况及特点 ,分析其与血浆脂蛋白 (a) [Lp(a) ]水平的关系。方法　采用聚合酶链反应结合非变性聚丙烯酰胺凝胶电泳法检测了 4 38例心肌梗死病人及 2 18例对照 (冠脉造影阴性 )和 80 9例脑梗死病人 (头颅CT检查证实 )及 1817例非脑卒中者对照的apo(a)PNTR基因多态性 ,采用酶联免疫吸附法检测其血浆Lp(a)的水平。结果　每组人群apo(a)PNTR共检出 8种等位基因 ,2 9种基因型 ,等位基因和基因型分别以 8和 8/ 8最为常见。脑梗死组小片段PNTR4 7频率明显增多 (P <0 0 5 ) ,心肌梗死组 5 / 8基因型频率显著高于对照组 (P <0 0 5 )。心肌梗死组和脑梗死组的血浆Lp(a)浓度均明显高于对照组 (P <0 0 0 1) ,且与apo(a)PNTR基因多态性呈明显的负相关 (P <0 0 1) ,在对照组均未发现这种关联。Logistic回归结果显示 :血浆Lp(a) >30 0mg/L者 ,心肌梗死的危险性增加 (OR值为2 4 ,95 %可信限 1 6 30 3 5 94 ) ,脑梗死的危险性增加 (OR值为 1 6 ,95 %可信限 1 0 13 2 0 2 1) ;apo(a)PNTR小片断重复与与脑梗死的发病有关 (OR值为 1 4 ,95 %可信限 1 0 4 0 1 910 ) ,而与心肌梗死无明显相关 (P >0 0 5 )。结论　血浆Lp(a)     

血管紧张素1转化酶基因多态性与Ⅱ型糖尿病合并心肌梗死的关系

为探讨血管紧张素 1转化酶 (ACE)基因插入 /缺失多态性与Ⅱ型糖尿病合并心肌梗死 (MI)及无并发症的Ⅱ型糖尿病 (DM2 )的相关情况 ,同时观察血清ACE水平与ACE基因多态性及疾病的关系。对 82例MI、86例DM2和 84例健康人 (对照组 )用PCR方法进行了ACE基因内含子 1 6插入 /缺失多态性的检测 ,用紫外分光光度法测定了血清ACE水平。结果MI组D等位基因频率 0 .52 ,DD基因型频率 0 .32 ,与对照组 ( 0 .36,0 .1 5)比较有显著差异 (P <0 .0 5) ,DD基因型对MI的比数比为 3.0 1 ( 95%可信区间为 1 .2 8～ 7.0 4 ,P <0 .0 1 ) ;DM2组基因型频率分布与对照组比较无显著差异 (P >0 .0 5) ;各组中DD基因型个体血清ACE水平最高 ,II基因型最低 ,基因多态性与血清ACE水平呈相关性 (r=0 .65,P <0 .0 1 )。说明ACE基因缺失多态性参与中国人DM2合并MI的发病 ,是其发病的危险因素     

阿尔茨海默病与α1-抗糜蛋白酶基因微卫星多态性的相关研究

OBJECTIVES: To examine the relation between the microsatellite polymorphism of alpha 1-antichymotrypsin (AACT) gene and Alzheimer's disease (AD) in Han population of Shanghai area, and to detect the influences of apolipoprotein E (ApoE) gene epsilon 4 allele on this relation. METHODS: The polymorphism of AACT and ApoE gene were genotyped in 63 AD cases, 62 controls with amplified fragment length polymorphism typing (Amp-FLP). RESULTS: The frequencies of A6 and A10 alleles of the microsatellite polymorphism of AACT gene polymorphism were decreased markedly (ZA6 = 2.2357, ZA10 = 1.9668, P < 0.05), but only A6 allele was negatively associated with AD (RR = 0.4, chi 2 = 4.683, P < 0.05). When the data were split into ApoE * epsilon 4-positive and ApoE * epsilon 4-negative groups, the drop of AACT * A6 allele frequency was only associated with AD with non-ApoE epsilon 4 (RR = 0.29, chi 2 = 3.197, P < 0.05). CONCLUSION: AACT * A6 allele may be associated with AD negatively in Shanghai area, and this effect only exists in non-ApoE * epsilon 4 AD.     

Polymorphisms in the coagulation factor Ⅶ gene and the risk of myocardial infarction in patients undergoing coronary angiography

Objective To investigate whether coagulation factor Ⅶ (FⅦ) polymorphisms play a role in the pathogenesis of coronary artery disease (CAD) and/or myocardial infarction (MI) in a series of Hans.Methods The Arg353Gln and HVR4 polymorphisms of FⅦ gene were determined in 374 patients undergoing selective coronary angiography by PCR and restriction fragment length polymorphism assay.Results The FⅦ genotype distribution was in accordance with Hardy-Weinberg equilibrium. The frequencies of FⅦ genotypes or alleles did not show significant differences between the CAD group and the controls or between the males and the females. The frequencies of carriers of the Gln353 allele and (Arg/Gln+Gln/Gln) genotypes were significantly higher in the CAD patients without MI than in those with MI （P=0.031, odds ratio 0.37, 95% CI: 0.15-0.94）. However, HVR4 polymorphisms were not significantly different between the two groups (P&gt;0.05).Conclusion Carrying the F Ⅶ Gln353 gene may be a protective factor against MI in the Chinese Hans.     

染色体9p21上rs10757278单核苷酸多态性与汉族人心肌梗死的相关性分析

目的研究染色体9p21上rs10757278位点单棱苷酸多态性（sNP）与中国汉族人群心肌梗死患病的相关性。方法选取432倒初发心肌梗死患者（MI组）及430例同期住院的外科对照患者。采用PCR—SNPStream技术对rs10757278位点进行多态性分型。并对分型蛄泰进行统计学分析。结果在MI组,rs10757278位点的GG、AG基因型分布频率高于对照姐,G等位基因分布频率也高于对照组（P〈0．01）。经校正混杂因素的影响后,我们发现rs10757278位点G等位基因的单个拷贝使MI发生的风险分别提高了33％（P〈0．05）。结论rs10757278是汉族人MI发生的易感位点。     

载脂蛋白E基因多态性与急性心肌梗死及血胆固醇水平的关系

目的：探讨载脂蛋白Ｅ（ＡｐｏＥ）基因多态性与急性心肌梗死及血胆固醇水平的关系，方法：５０例急性心梗患者及１００便正常人，采用聚合酶链反应－－限制性片段长度分析ＡｐｏＥ的基因型，并按标准酶法及免疫学方法测定血脂和载脂蛋白。结果：Ｅ４等位基因及基因型频率在病例中均明显高于对照组，而在病例组中共Ｅ４患者血脂固醇也高于Ｅ３．３患者。结论：本研究表明ＡｐｏＥ基因多态性与急性心梗相关，并影响血胆固醇水平。     

血小板内皮细胞粘附分子基因G+1688A多态性与中国汉族老年心肌梗死患者的相关性研究

目的探讨血小板内皮细胞粘附分子(platelet endothelial cell adhesion molecule-1,PECAM-1)基因G+1688A(Ser563Asn)多态性与老年人群心肌梗死(myocardial infarction,MI)的关系。方法采用病例-对照研究,应用聚合酶链反应-限制性酶切片段长度多态性(PCR-RFLP)分析技术对100例老年MI患者和120例老年非冠心病对照人群PECAM-1基因的第8号外显子区单碱基突变多态性(single nucleotide polymorphism,SNP)进行分析,即基因型和等位基因频率在两组中的分布规律及其与MI的关系。结果AA基因型频率在病例组与对照组之间有显著差异(43%:24%,p<0.001),等位基因间亦存在同样的趋势(A/G:65%:54%,p<0.001)。而且在高胆固醇或收缩压过高的人群中,基因型为AA者患MI的危险度增高。结论在老年MI患者中,PECAM-1基因G+1688A点突变多态性与MI发病密切相关,可能是老年患者MI的遗传危险因素。     

No association between thrombospondin-4 A387P polymorphism and acute coronary syndrome in Chinese Han population

Objective： The thrombospondin-4 （TSP-4） gene G29926C （A387P） polymorphism was recently reported to be associated with an increased risk of MI （myocardial infarction） in American population. However, several subsequent studies produced controversial findings. The aim of this study was to explore the possible association between TSP-4 A387P polymorphism and ACS （acute coronary syndrome） in Chinese Han population. Methods：A case-control study including 412 patients with ACS and 337 controls free from CAD （coronary artery disease） was conducted. TSP-4 A387P polymorphism was determined by PCR （polymerase chain reaction） and RFLP （restriction fragment length polymorphism） analysis. Results：Slightly decreased frequency of GC genotype was observed in patients with ACS, compared with controls（5.3% vs. 7.1%）, but the difference did not reach statistical significance （P = 0.31 ）. Similarly, the prevalence of C allele was 2.7% and 3.6% for ACS and control groups, respectively （P = 0.32）. None of homozygote was detected for C allele. Further analyses in subjects subgrouped according to sex and age also showed no association of TSP-4 A387P polymorphism with ACS. Furthermore, after adjustment for conventional risk factors by multiple logistic regression analysis, the carrier prevalence of C allele did not differ significantly between ACS and control groups （OR = 0.85; 95% CI：0.45-1.59; P = 0.60）. Conclusion：The present study suggested that the TSP-4 A387P variant showed a low prevalence compared with western populations and failed to associate with an altered risk of ACS in Chinese Han population. The findings further supplement experimental data for TSP-4 gene study of coronary disease.     

载脂蛋白E基因多态性与冠心病的关系分析

目的：研究载脂蛋白E（ApoE)基因多态性与冠心病的关系。方法：选择63例冠心病患者,PCR扩增ApoE基因第4外显子包含编码第112位和第158位氨基酸残基的基因序列,cfoI限制性内切酶酶切后电泳,银染色后分析ApoE基因型。并与年龄、性别相匹配的90例正常对照组比较各基因型及等位基因频率分布。结果：冠心病组E4等位基因频率（12．70％）明显高于对照组（5．55％）（P＜0．05）。结论：E4等位基因可能是冠心病的遗传易患因子。