有高血压史的脑梗死患者G蛋白β3亚基基因C825T多态性研究

目的 探讨G蛋白β3亚基（G proteinβ3 subunit,GNB3）基因C825T多态性与原发性高血压和有高血压病史脑梗死发病的关系。方法采用聚合酶链反应限制性片段长度多态性分析对110名40岁以上的健康成年人和92例原发性高血压、80例有高血压史的脑梗死患者GNB3基因C825T多态性进行检测,记录性别、年龄、糖尿病史、吸烟史、饮酒史,并测定体质指数、腰臀比、总胆固醇( total cholesterol,TC)、三酰甘油（triglyceride,TG）、高密度脂蛋白胆固醇（high-density lipoprotein cholesterol,HDL-C）和空腹血糖浓度。采用多变量logistic回归分析筛选与高血压患者脑梗死发病相关的因素。结果 3组人群GNB3基因C825T多态性分布均符合Hardy -weinberg遗传平衡定律。在有高血压史的脑梗死患者中CC、CT和TT等3种基因型频率分别为33％、57％和20％,在原发性高血压患者中分别为33％、42％和25％,健康对照组中分别为26％、54％和20％,无显著差异(x2=4.030,P=0.402);3组人群中825T等位基因频率分别为39％、40％和47％,无显著差异(x2=0.367,P=0.832)。多变量logistic回归分析显示,TC[优势比（odds ratio,OR）10.810,95％可信区间(confidence interval,CI)2.645 ～ 44.136,P=0.000]、TG( OR 5.453,95% CI 1.662～17.881,P=0.005)、HDL-C(OR0.181,95％CI 0.041～0.795,P=0.027)、血糖（OR2.386,95％ CI 1.062 ～5.363,P=0.035）、糖尿病（OR7.156,95％CI1.271～40.291,P=0.026）是脑梗死的独立危险因素,而GNB3基因型和等位基因未进入模型。结论 GNB3基因C825T多态性可能与脑梗死和原发性高血压无关。     

冠心病患者TM基因1418位C/T多态性的研究

提取100例冠心病(CHD)患者和73例非CHD患者的基因组DNA,采用突变特异性扩增系统方法检测血栓调节蛋白(TM)基因1418位C/T多态性.发现我国北方地区人群中TM 1418位存在C/T两态,且以基因型T/C为主;CHD患者与非CHD患者间基因型频率和等位基因型频率均有统计学差异.认为TM 1418位C/T多态性与CHD发病相关.     

血栓调节蛋白基因多态性和血浆水平与冠心病的相关性

血栓调节蛋白（thrombomodulin,TM）是一种分布于静脉、动脉和毛细血管内皮细胞表面的跨膜糖蛋白,主要由血管内皮细胞合成并附于内皮细胞表面,可与凝血酶结合形成复合物,在抑制凝血和激活纤溶过程中起重要的作用,能调节血栓形成。sTM即可溶性血栓调节蛋白,是血管内皮损伤的标志并与多种炎症性疾病相关。该文阐述了TM的结构和功能,TM基因多态性以及血浆sTM水平与冠心痛的相关性。     

血栓调节蛋白-33G／A基因多态性与脑梗死的关系

目的探讨脑梗死发病和血栓调节蛋白（TM）启动子区-33G／A基因突变的相关性。方法纳入2009年11月—2010年7月云南省第一人民医院130例云南昆明的脑梗死患者,以及同期住院的对照组（抑郁、焦虑、眩晕及脑炎患者）120例。运用聚合酶链式反应-限制性片段长度多态性方法（PCR—RFLP）检测入选对象的TM-33G／A基因多态性。多因素Logistic回归分析脑梗死与TM-33G／A基因多态性的关系。结果①130例脑梗死患者中,GG基因型有99例,GA基因型有30例,AA基因型有1例,G／A点突变率为23．8％（31／130）;120例对照组中GG基因型106例,GA基因型13例,AA基因型1例,G／A点突变率为11．7％（14／120）,两组间比较差异有统计学意义,P〈0．05。②多因素Logistic回归分析提示,除年龄、吸烟史、高血压史、低密度脂蛋白胆固醇增高、空腹血糖升高与脑梗死相关外,TM-33G／A多态性也是脑梗死发病的独立危险因素（OR=2．175,95％CI：1．049～4．511,P=0．037）。结论TM启动子区-33G／A基因多态性可能是脑梗死的危险因素之一。     

老年脑梗死患者血栓调节蛋白及IL-6水平

急性脑梗死发病率高、起病急、多复发、威胁着人们的生命,对患者家庭带来经济负担和沉重的打击〔1〕。血栓调节蛋白(TM)在内皮细胞发生损伤时被释放,是内皮损伤时的一种保护因子。白细胞介素(IL-6)主要由T淋巴细胞和巨噬细胞释放,两者在血清中的水平可以随脑梗死的发生产生相应的变化。本研究探讨TM、IL-6在急性脑梗死病变中的临床价值。     

系统性红斑狼疮肾损害患者血浆血栓调节蛋白的检测及其意义

血栓调节蛋白（ｔｈｒｏｍｂｏｍｏｄｕｌｉｎ，ＴＭ）是血管内皮细胞的凝血酶受体，其可溶性ＴＭ可从血浆、血清、胸腹水和尿液等体液中检测到。这些标本中的ＴＭ增高与血管内皮受损有关。系统性红斑狼疮（ＳＬＥ）常累及血管丰富的肾脏，可引起血浆ＴＭ（ｐｌａｓｍａＴ...     

冠心病与血浆血栓调节蛋白基因启动子甲基化有关

目的探讨血栓调节蛋白（thrombomodulin,TM）基因启动子甲基化与冠心病（CHD）的关系。方法选择经冠状动脉造影（CAG）证实有狭窄或粥样斑块的CHD患者90例,和经CAG证实无狭窄或粥样斑块的对照组75例,采用甲基化特异性PCR（MS-PCR）检测两组血浆TM基因启动子甲基化状况。结果CHD组TM基因启动子甲基化检出率为41%（37/90）,对照组为20%（15/75）,两组比较差异有统计学意义（P<0.01）;CHD组1支病变组TM基因启动子甲基化检出率为44%（11/25）,2支病变组检出率为39%（9/23）,≥3支病变组检出率为40%（17/42）,3组比较差异无统计学意义。结论CHD患者血浆TM基因启动子甲基化与CHD有关,但其甲基化状态与动脉粥样硬化的病变程度没有相关关系。     

血栓调节蛋白与脑梗死面积的关系

目的探讨急性脑梗死患者血浆血栓调节蛋白（TM）浓度与脑梗死面积的关系。方法选择急性脑梗死患者243例行核磁共振检查,以弥散像所示新发血栓面积将患者分为腔隙性梗死组、脑梗死组、大面积脑梗死组。以同期住院经核磁共振检查证实无新发梗死97例作为对照组。对各组血浆TM浓度进行检测。结果腔隙性脑梗死组、脑梗死组、大面积脑梗死组TM均高于对照组（P〈0．05）,腔隙性脑梗死组、脑梗死组、大面积脑梗死组间TM差异无统计学意义（P〉0．05）。结论脑梗死急性期患者血浆TM浓度升高,可以反映血管内皮损伤,但对于评估梗死面积无临床意义。     

急性胰腺炎病人血浆血栓调节蛋白、D-二聚体变化的研究

目的探讨急性胰腺炎不同阶段血浆血栓调节蛋白（TM）、D-二聚体的变化及其临床意义。方法采用酶联免疫吸附测定法,分析轻症急性胰腺炎患者（20例）、重症急性胰腺炎患者（16例）、正常对照组（15例）的TM、D-二聚体指标,并做APACHEⅡ评分。结果重症急性胰腺炎患者TM、D-二聚体含量升高,与轻症和正常对照组比较差异有显著性（P〈0．05）。伴随APACHEⅡ评分升高,TM、D-二聚体的含量升高。结论急性胰腺炎病人均存在不同程度的血管内皮细胞损伤及凝血和纤溶系统的激活,血浆TM、D-二聚体含量可作为急性胰腺炎病情进展、预后判定的指标之一。     

冠心病患者血浆血栓调节蛋白水平的测定及其临床意义

目的　测定冠心病患者血浆血栓调节蛋白 ( throm bom odulin,TM)水平并探讨其临床意义。方法　急性心肌梗死、不稳定型心绞痛、稳定型心绞痛三组患者及正常对照组 ,抽取血浆并用酶联免疫吸附试验测量其血浆 TM水平。结果　急性心肌梗死组、不稳定型心绞痛组、稳定型心绞痛组血浆 TM水平均高于正常对照组 ( P<0 .0 5 ) ;急性心肌梗死组与不稳定型心绞痛组间患者血浆 TM水平没有显著性差异 ( P>0 .0 5 ) ,但均高于稳定型心绞痛组和正常对照组 ( P<0 .0 5 )。结论　血浆可溶性 TM水平是反映冠心病患者内皮细胞损伤程度和范围的良好标志 ,对急性心肌梗死、不稳定型心绞痛、稳定型心绞痛的鉴别有一定的临床指导意义     

卵磷脂胆固醇酰基转移酶基因608C/T和511C/T多态性与湖南地区汉族人卒中的关系

目的 探讨卵磷脂胆固醇酰基转移酶(1ecithin cholesterol acyltransferase,LCAT)基因608C/T和511C/T多态性与中国湖南地区汉族人群卒中发病的关系.方法 选择150例脑梗死、150例脑出血患者以及122名年龄和性别相匹配的对照者,应用聚合酶链反应、单链构象多态性技术和限制性片...     

Association study of the thrombomodulin -33G>A polymorphism with coronary artery disease and myocardial infarction in Chinese Han population

BACKGROUND: Thrombomodulin (TM) is the anticoagulant endothelial cell membrane-bound protein cofactor in the thrombin-mediated activation of protein C. Recently, conflicting data have been reported regarding the possible contribution of the TM -33G>A polymorphism to coronary artery disease (CAD) or myocardial infarction (MI) in some Asian populations. We investigated this polymorphism in northern Han Chinese. METHODS: We performed a case-control study, including 808 patients with angiographically verified CAD or a history of an acute MI and 813 age- and sex-matched controls. The TM -33G>A polymorphism was determined by polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) analysis. RESULTS: We did not find a significant difference in the frequency of the A allele between CAD patients (11%) and controls (9.8%; P=0.249), between MI patients (11.5%) and controls (P=0.163), or between premature MI patients (11.7%) and controls (P=0.265). Similarly, the difference of the genotypic distributions could be neglected across the groups: GG: (GA/AA) was 81.4%:18.6% in controls, 79.7%:20.3% in patients with CAD, 78.8%:21.2% in patients with MI, and 77.7%:22.3% in patients with premature MI, respectively (vs. controls, all P>0.05). The lack of association also persisted after adjusting for other conventional risk factors. CONCLUSIONS: Our results seemed not to support a significant association of the TM -33G>A polymorphism with CAD, MI or premature MI in our population.     

白细胞介素-18启动子-137G/C基因多态性和血浆IL-18含量与急性脑梗死的相关性

目的探讨白细胞介素-18( interleukin-18,IL-18)基因启动子- 137G/C多态性及血浆IL-18含量和脑梗死的相关性。方法入选北方地区汉族急性脑梗死患者218例,以年龄和性别相匹配的218名汉族健康体检者作为对照组。采用酶联免疫吸附法检测血浆IL.-18含量,应用序列特异性引物-聚合酶链反应技术检...     

降钙素基因相关肽在脑血管病患者血浆中含量表达

目的：探讨降钙素基因相关肽（ＣＧＲＰ）与脑血管病的发病关系。方法应用放射免疫分析法检测脑血管病患者血浆ＣＧＲＰ含量。结果脑梗塞患者急性期血浆ＣＧＲＰ含量低于恢复期及正常对照组（Ｐ〈０．０１）,重型患者低于轻型及中型（Ｐ〈０．０１）,伴原发性高血压病史的急性期患者血浆ＣＧＲＰ含量低于不伴原发性高血压病史者（Ｐ〈０．０１）;脑出血患者急性期血浆ＣＧＲＰ含量高于恢复期及正常对照组（Ｐ〈０．０１）,重型高     

Apolipoprotein C3 (-455T>C) polymorphism confers susceptibility to nonalcoholic fatty liver disease in the Southern Han Chinese population

AIM: To investigate the relationship between Apolipoprotein C3 (APOC3) (-455T>C) polymorphism and nonalcoholic fatty liver disease (NAFLD) in the Southern Chinese Han population.METHODS: In this prospective case-control study, we recruited 300 NAFLD patients and 300 healthy controls to a cohort representing Southern Chinese Han population at The First Affiliated Hospital, Sun Yat-sen University, from January to December 2012. Polymerase chain reaction-restriction fragment length polymorphism and DNA sequencing were used to genotype the APOC3 (-455T>C) variants.RESULTS: After adjusting for age, gender, and body-mass index, TC and CC genotypes were found to increase the susceptibility to NAFLD compared to the TT genotype, with adjusted odds ratios (ORs) of 1.77 (95%CI: 1.16-2.72) and 2.80 (95%CI: 1.64-4.79), respectively. Further stratification analysis indicated that carriers of the CC genotype was more susceptible to insulin resistance (IR) than those of the TT genotype, with an OR of 3.24 (95%CI: 1.52-6.92). The CC genotype also was associated with a significantly higher risk of hypertension, hypertriglyceridemia, and low levels of high-density lipoprotein cholesterol (HDL) (P < 0.05). No association was found between the APOC3 (-455T>C) polymorphism and obesity, impaired glucose tolerance, hyperuricemia, hypercholesterolemia, or high levels of low-density lipoprotein cholesterol (LDL) (P > 0.05).CONCLUSION: APOC3 (-455T>C) genetic variation is involved in the susceptibility to developing NAFLD, IR, hypertension, hypertriglyceridemia, and low HDL in the Southern Chinese Han population.     

载脂蛋白E基因多态性与脑血管病的关系

目的　探讨载脂蛋白 E ( APOE)基因多态性与脑血管病 ( CVD)的关系。方法　应用聚合酶链反应—限制性长度多态性技术 ( PCR-RFLP) ,检测 30例脑出血 ( CH)及 6 3例脑梗死 ( CI)患者的 APOE基因型 ,并与 6 6名同龄健康对照组比较。结果　 CH组 APOE基因型ε4及ε4携带者的频率明显高于对照组 ( P<0 .0 5 ) ,ε3及ε3/3频率显著低于对照组 ( P<0 .0 1 ) ;CI组 APOE基因型 ε3/4明显高于对照组 ( P<0 .0 5 )。结论　 APOE基因 ε3/4与 CI的发生相关 ,等位基因 ε4可能是 CVD的一种遗传易感因子 ,ε3/3可能与 CVD的保护有关。     

载脂蛋白E基因多态性与脑梗死的关系

目的探讨载脂蛋白E（apoE）基因多态性与脑梗死的关系。方法应用聚合酶链式反应-限制性片断长度多态性（PCR—RFLP）技术检测78例脑梗死患者和90名健康对照者apoE基因多态性分布特征。结果发现5种apoE基因型，脑梗死组E3／4基因型频率（23．1％）及ε4频率（14.7%）显著高于对照组（7．8％，5．0％），P〈0．05。而E3／3基因型频率（56．4％）及ε3频率（75.6%）显著低于对照组（78．9％，88．3％），P〈0．05。不同apoE基因型间胆固醇和低密度脂蛋白胆固醇水平差异有统计学意义（P〈0．05）。结论apoE基因多态性与脑梗死有关，并影响血脂水平。     

Association between Val/Leu247 polymorphism of apolipoprotein H and cerebral infarction in a Chinese population

Background Antiphospholipid antibodies (aPL) are considered to be a cause of an acquired hypercoagulable state leading to cerebral infarction (CI). Apolipoprtein H (apoH) is an important target antigen for aPL and thus apoH polymorphisms may influence aPL production and the development of CI. The purpose of this study was to identify associations between the Val/Leu²⁴⁷ polymorphism of apoH gene and CI in a Chinese cohort. Methods This study comprised 130 CI patients and 100 healthy control subjects. Polymorphism assignment was determined by polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) technique and DNA sequencing. The presence of aPL was detected by ELISA utilizing irradiated ELISA plates. Results Our results demonstrated an association between the Val/Leu²⁴⁷ polymorphism of apoH gene and aPL in CI patients. The frequency of V allele was significantly higher in aPL-positive CI patients compared with control group (χ² = 6.864, P < 0.05). VL genotype frequency was also significantly higher in aPL-positive CI group compared with control group (χ² = 13.879, P < 0.05) and aPL-negative CI group (χ² = 5.567, P < 0.05). Conclusions The Val²⁴⁷ allele of apoH gene is significantly associated with the presence of aPL in Chinese patients with CI.     

云南纳西族人群血管紧张素转换酶基因多态性与脑血管病的相关性研究

目的 探讨血管紧张素转换酶(angiotension-convertion enzyme,ACE)基因插入/缺失(insertion/deletion,I/D)多态性与云南丽江纳西族脑血管病的相关性.方法 纳入58例纳西族脑梗死患者、32例纳西族脑出血患者以及50例性别和年龄相匹配的纳西族健康对照者,采用聚合酶链反应-...