心肌梗死患者血管紧张素转换酶基因型分析

目的 研究心肌梗死与血管紧张素转移酶（ＡＣＥ）基因多态性的关系。方法 应用ＰＣＲ技术扩增病人外周血ＡＣＥ基因第１６内含子目的片段，琼脂糖凝胶电泳确认等位基因，计算各组基因型频率。结果 病例组和对照组ＡＣＥ基因多态性分布频率，ＤＤ型分别为４１．４％和２２．０％、ＩＤ型分别为３１．０％和４１．５％、Ⅱ分别为２７．６％和３６．６％，病例组ＤＤ型高于对照组，ｘ＾２＝４．２１，Ｐ〈０．０５。结论 ＡＣＥ基因     

环氧化酶2基因多态性和口腔癌危险性关系研究

目的本文旨在研究环氧化酶2（COX-2）基因多态性与口腔癌发生风险韵相关性。方法选取我院口腔中心2010年6月～2013年8月收治的56例口腔癌患者作为病例组,并按照1：2的比例选取112例无口腔疾病研究对象作为对照组,应用聚合酶链反应限制性片段长度多态性技术测定COX-2基因多态性,并采用多因素Logistic回归分析。结果-1195A〉G位点基因频率在病例组中分别为AA（27．27％）、AG（54．55％）、GG（18．18％）．对照组分别为AA（21．82％）、AG（63．44％）、GG（14．55％）,两组基因分布差异无统计学意义（P=O．341）。-765G〉C位点基因频率在病例组中分别为GG（88．68％）、GC（11．32％）、CC（0）,对照组分别为GG（93．33％）、GC（6．67％）、CC（0）,两组基因分布差异无统计学意义（P=0．707）。8473T〉C位点基因频率在病例组中分别为TT（68．63％）、CC（27．45％）、TC（3．92％）,对照中分别为TT（60．75％）、CC（29．91％）、TC（9．35％）,两组基因分布差异无统计学意义（P=O．539）。1795G〉A位点基因频率在病例组中分别为GG（94,44％）、GA（5．56％）、AA（0％）,对照中分别为GG（92．59％）、GA（7．41％）、AA（0）,两组基因分布差异无统计学意义（P=0．104）。结论本研究结果显示,SNP基因位点-1195A〉G、-765G〉C、8473T〉C、1795G〉A位点的各种基因型改变与口腔癌的发生易感性之间不存在显著的统计学联系。     

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     

TET2基因单核苷酸多态性与急性心肌梗死易感性的关系

目的 探讨TET2基因单核苷酸多态性（rs2454206、rs12498609）与急性心肌梗死易感性的相关性。方法 前瞻性选取2022年1月—2022年9月承德医学院附属医院收治的急性心肌梗死患者作为病例组，另选取同期该院健康人群作为对照组，每组150例。比较两组一般资料及血脂相关指标，采用实时荧光定量聚合酶链反应（q RT-PCR）检测TET2基因rs2454206、rs12498609位点基因型，采用多因素Logistic逐步回归分析影响急性心肌梗死发生的危险因素。结果 两组TET2基因rs2454206位点、rs12498609位点基因型频率、等位基因频率比较，差异均有统计学意义（P<0.05）。多因素Logistic逐步回归分析显示，高血压■、rs2454206位点AA基因型■、rs12498609位点CC基因型■是影响急性心肌梗死发生的危险因素（P<0.05),■]是影响急性心肌梗死发生的保护因素（P<0.05）。结论 急性心肌梗死的发生受多种因素影响，其中TET2基因rs2454206位点AA基因型、rs12498609位点CC基因型可能与急性心肌梗死易感...     

低密度脂蛋白受体基因AvaⅡ多态性与心肌梗死的关系研究

目的 :探讨动脉粥样硬化致心肌梗死 ( AMI)与低密度脂蛋白受体基因( LDL- R) Ava 多态性的关系。方法 :用聚合酶链反应 ( PCR)技术检测 1 1 3例健康人和 81例 AMI患者的 LDL - R基因 Ava 多态性及血脂的含量。结果 :LDL- R基因 Ava 等位基因频率健康人 A+ 为 0 .2 30 ;AMI组 A+ 为 0 .32 7。 AMI组与对照组比较 LDL- R基因 Ava 多态性 A+ 型等位基因频率明显增高 ( P<0 .0 5 ) ;血清 TC、L DL- C、TG及 L P( a)水平亦明显增高 ( P<0 .0 1 )。结论 :Ava 多态性的 A+ 型等位基因可能与 AMI密切相关。     

Association of the 3050G>C polymorphism in the cyclooxygenase 2 gene with systemic sarcoidosis

BACKGROUND: We investigated the potential association between cyclooxygenase-2 (COX-2) gene polymorphisms and clinical manifestations of sarcoidosis. METHODS: This observational cross-sectional study involved seven hospitals in Spain. We diagnosed patients with sarcoidosis according to the International Criteria. The following variables were recorded: age, gender, initial diagnostic methods, serum angiotensin-converting enzyme (ACE) levels, pulmonary function tests, radiological stage, and clinical findings at diagnosis. Manifestations of sarcoidosis were classified as systemic vs. nonsystemic. Genotyping of four COX-2 polymorphisms (COX2.5909T>G, COX2.8473T>C, COX2.926G>C, and COX2.3050G>C) was undertaken on DNA extracted from peripheral blood lymphocytes using fluorescent hybridization probes and melting curves. RESULTS: A total of 131 sarcoid patients (63 males, mean age: 47 +/- 15 years) were studied. One hundred twenty-six of these patients had one or more positive biopsies. The results demonstrated that genotype distribution for the COX2.3050G>C polymorphism was significantly different between patients with systemic sarcoidosis and those with nonsystemic forms (p = 0.046). After adjustment for age, gender, and serum ACE levels, a significant association between the carriage of at least one C allele of the COX2.3050G>C polymorphism and systemic sarcoidosis was observed (odds ratio [OR]: 2.3; 95% confidence interval [CI]: 1.03-5.12, p = 0.031). Other polymorphisms were not associated with either clinical manifestations of the disease or serum ACE levels. CONCLUSIONS: Our results indicate for the first time that the C allele of the COX2.3050G>C polymorphism is associated with systemic sarcoidosis.     

CYP2C19基因多态性与急性心肌梗死患者炎症指标、临床预后的相关性

目的 探讨急性心肌梗死患者细胞色素P450酶基因(cytochrome P450,family 2,subfamily C,polypeptide 19,CYP2C19)多态性与高敏C-反应蛋白(hypersensitive C-reactive protein,hs-CRP)、白细胞介素-6(interleukin-...     

Nitrous oxide as an analgesic in acute myocardial infarction.

Nitrous oxide in a concentration of 35% has been shown to ameliorate the pain of acute myocardial infarction. This conclusion was reached on the basis of a double-blind study in 69 patients and a clinical study in an additional 42 patients. The use of nitrous oxide was not accompanied by hemodynamic changes or significant adverse reactions.     

血小板膜糖蛋白Ia-807基因多态性与急性心肌梗死的关系

目的通过检测急性心肌梗死患者及对照人员的血小板膜糖蛋白Ia-807基因多态性,探讨该多态性与急性心肌梗死发病的关系。方法血小板膜糖蛋白Ia基因-807多态性分析:①碘化钾法提取人基因组DNA;②多聚酶链反应(PCR)扩增目的基因片段;③酶切产物经2%琼脂糖凝胶电泳分离后,紫外灯下检测酶切结果。SPSS11.5软件分析数据。结果①急性心肌梗死组血小板膜糖蛋白Ia807TT TC基因型携带者频率显著高于对照组。②急性心肌梗死患者平均甘油三脂水平显著高于对照组。结论①血小板膜糖蛋白Ia807T等位基因可能是急性心肌梗死发病的独立遗传性危险因素。②急性心肌梗死发病与血清甘油三脂水平有关。     

Neutrophil gelatinase-associated lipocalin acts as a protective factor against H(2)O(2) toxicity

BACKGROUND: Lipocalin 2 (Lcn2, NGAL) is a member of the lipocalin superfamily for which a variety of functions have been reported. However, the precise biological roles of NGAL are not fully known. We have investigated the ability of NGAL to prevent H(2)O(2) toxicity, which is considered to be the classical inducer of oxidative stress caused by ROS generation in an in vitro model. METHODS: NGAL cDNA was isolated from HepG2 cell line and cloned to pcDNA3.1(+) vector. The construct was transfected to CHO cell line. Stable clones were generated, and the expression of NGAL was determined by RT-PCR, Western blot analysis and ELISA. NGAL gene in A549 cell line was downregulated with the siRNA. CHO and A549 cells were intoxicated with H(2)O(2) and cell proliferation was performed by MTT assay. Apoptotic cells were detected by flow cytometry. RESULTS: Cell proliferation was higher in CHO expressing NGAL in doses of 5 and 10 mM H(2)O(2) after 2h compared with the control. H(2)O(2) was also more toxic in the presence of NGAL siRNA compared with the control in A549 cell. Our results also revealed that NGAL protect cells from apoptosis. CONCLUSIONS: Overall, our results revealed for the first time a new function for NGAL/Lcn2: acting as a protective factor against H(2)O(2) toxicity. In the future, NGAL may have the potential application to ameliorate the toxicity induced by oxidative stress conditions.     

类固醇生成因子-1基因G146A多态性与2型糖尿病的相关性

目的探讨类固醇生成因子-1(SF-1)基因G146A多态性与2型糖尿病及其胰岛素抵抗的关系。方法采用聚合酶链反应-限制性片段长度多态性分析(PCR-RFLP)方法,对151例2型糖尿病患者(病例组)与141名非糖尿病患者(对照组)G146A位点进行分析。结果对照组SF-1 G146A中G／A A／A基因频率为46．8％,显著低于病例组的58．3％(P=0．04)。病例组A等位基因频率明显高于对照组(P=0．01)。病例组中,G／A A／A基因型携带者的空腹胰岛素水平、稳态模型评估胰岛素抵抗指数(HOMA-IR)及稳态模型评估胰岛β细胞分泌功能(HOMA-β)均显著高于G／G型携带者(P值均<0．05)。结论SF-1基因G146A多态性可能是发生2型糖尿病的易感因素,且与胰岛素抵抗作用相关。     

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.     

Relationship between nerve injury-induced protein gene 2 polymorphism and stroke in Chinese Han population

The aim of present study was to investigate the relationship between nerve injury-induced protein 2 (NINJ2) gene polymorphism and stroke in Chinese Han population.Fifty-two patients with large-artery atherosclerosis (LAA) infarction,85 patients with small-artery occlusion lacunar (SAO) infarction,50 patients with intracerebral hemorrhage (ICH) and 66 controls were included.Genotypes and alleles frequencies of the two single nucleotide polymorphisms (SNPs) of NINJ2 among different groups were analyzed and co...     

TAFI基因编码区C1040T位点单核苷酸多态性与心肌梗死相关性分析

目的探讨凝血酶激活的纤溶抑制物（TAFI）编码区基因单核苷酸多态性与心肌梗死的相关性。方法应用聚合酶链反应－限制性内切酶片段长度多态性(Restriction fragment length polymorphism,PCR RFLP)分析技术检测了100例心肌梗死（MI）患者和90例正常对照者的CPB2基因的基因型。结果CPB2基因的3种基因型（Thr325Thr、Thr325Ile、Ile325Ile）频率在MI组和对照组分别为32%、53%、15%和34.4%、54.4%、11.2%,等位基因C、T频率在MI组和对照组分别为58.5%、41.5%和61.7%、38.3%,两组之间基因型和等位基因频率分布差异无统计学意义（P＞0.05）,且均符合Hardy Weinberg平衡定律。结论CPB2基因的基因多态性（Thr325Ile）与心肌梗死没有明显关系。     

心脑梗死患者凝血因子XIIIA基因Val34Leu多态性及血浆水平

目的:探讨凝血因子FXIIIA基因Val34Leu多态性、血浆FXIII抗原及活性水平在心肌梗死与脑梗死患者中的临床意义. 方法:采用双抗体夹心ELISA法检测心肌梗死、脑梗死患者及健康对照者血浆FXIII抗原;生物素标记法检测血浆FXIII活性;等位基因特异PCR检测FXIIIA基因V34/L的基因型. 结果:心肌梗死组和脑梗死组FXIIIA基因Leu34基因频率分别为0.018和0.029,较健康人群偏高,但三组之间无显著差异(P>0.05),且含Leu者的FXIII活性偏高,但与Val者无差异(P>0.05). 心肌梗死组和脑梗死组血浆FXIIIA亚基和B亚基抗原含量、FXIII活性与健康对照组比较无显著差异(P>0.05). 结论:中国人群FXIIIA基因Val34Leu多态性、血浆FXIII抗原和活性与心肌梗死及脑梗死患病危险性无明确相关性.     

心肌梗死患者血管紧张素转换酶基因插入/缺失多态性检测

目的探讨心肌梗死患者(MI)血管紧张素转换酶(ACE)基因插入/缺失多态性.方法对93例MI患者及87例健康体检者,应用PCR方法扩增ACE基因特异性片段,并调查分析MI患者经典危险因素.结果 ①不同ACE基因型MI患者的年龄、性别、体重指数、血压、胆固醇、甘油三酯、血糖等之间差异均无统计学意义.②MI组ACE DD基因型频率(32.3%)和D等位基因频率(54.3%)高于对照组(P<0.01),在多支冠状动脉血管病变中虽有增多趋势,但与单支病变相比差异无统计学意义(P>0.05).结论ACE DD基因型与MI的危险性增加相关,与冠心病的经典危险因素无关.     

中国北方汉族人群TFPI-287T＞C基因多态性与急性心肌梗死的关系研究

目的 探讨中国北方汉族人群急性心肌梗死患者和正常人组织因子途径抑制物(TFPI)基因5'调空区转录起始位点上游-287碱基T＞C点突变的发生率及该基因多态性与中国北方汉族人群急性心肌梗死的关系.方法 应用病例对照研究的方法,对82例急性心肌梗死患者和110例健康对照者(均来自中国北方汉族人群)外周血提取的DNA样本,应用聚合酶链式反应-限制性片段长度多态性(PCR-RFLP)方法对TFPI-287T＞C点突变进行分析.结果 T/C单核苷酸多态位点等位基因T、C频率在AMI组和正常对照组分别为0.9634、0.0366和0.9318、0.0682.等位基因频率和基因型频率分布均符合Hardy Weinberg平衡定律.二组间基因型分布无统计学差别,等位基因T、C频率在两组间无显著性差异(P＞0.05,OR:0.6,95% CI:0.2～1.3).结论 中国北方汉族人群TFPI287T＞C基因多态性与急性心肌梗死发病无明显相关性.TFPI基因-287T＞C点突变不是中国北方汉族人群急性心肌梗死发病的危险因素,中国北方汉族人群TFPI-287T＞C等位基因频率非常低.     

中国心肌梗死患者血管紧张素Ⅰ转换酶基因插入/缺失多态性Meta分析

目的对中国人血管紧张素Ⅰ转换酶(ACE)基因内含子16插入(I)/缺失(D)多态性与心肌梗死的关联性进行Meta分析.方法以心肌梗死组和健康对照组基因型分布的比值比(OR)为统计量.全面检索到相关文献,剔除不符合要求的文献,排除发表偏倚的影响,应用REVMAN3.1软件对各研究结果进行一致性检验和采用相应的数学模型进行数据合并.结果相关文献未发现显著发表偏倚,数据合并结果心肌梗死组和健康对照组DD/(ID+II)OR 2.33,95%可信区间(CI)1.65～3.29,(P＜0.01),II/(ID+DD)OR 0.59,95%CI 0.47～0.73,(P＜0.01).结论中国人ACE I/D多态性与心肌梗死有关联,心肌梗死组DD基因型增多,II基因型减少.     

NINJ2基因多态性与陕西地区脑梗塞患者的相关性的研究

目的：探讨神经损伤诱导蛋白2（NINJ2）基因多态性与陕西地区缺血性脑卒中的关系。方法：选取2014年1月～2016年2月在我院治疗的缺血性脑卒中患者172例作为观察组,同时选取在我院进行体检的110例健康人作为对照组,采用聚合酶联反应-限制性片段长度多态性技术对NINJ2 rs10849373、rs4980840、rs2535393和rs11063806位点进行基因型检测,比较观察组和对照组基因型和等位基因频率的差异。结果：观察组体重指数（BMI）、血清总胆固醇（TC）和低密度脂蛋白（LDL）分别为（25.22±1.89）kg/m2、（4.81±1.22）mmol/L和（3.01±0.82）mmol/L,吸烟和饮酒的比例分别为40.70%和27.91%,均高于对照组,差异比较有统计学意义;rs10849373、rs4980840、rs2535393和rs11063806位点GG、GA和AA基因型在观察组和对照组的频率分布符合Hardy-Weinberg平衡定律;观察组rs10849373位点AA、GA基因型以及等位基因A的频率分别为11.63%、40.12%和31.69%,明显高于对照组,rs10849373位点的基因型及基因频率在观察组和对照组间差异有统计学意义;rs4980840、rs2535393和rs11063806位点在观察组和对照组间的分布差异无统计学意义。结论：NINJ2基因中rs10849373位点与陕西地区缺血性脑卒中有关,需进一步研究。