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1.
目的:探讨青年缺血性卒中的TOAST病因分型,各分型与血浆纤维蛋白原(Fg)、总同型半胱氨酸(tHcy)浓度及相关基因Fgβ-148C/T、MTHFR 677C/T多态性的关系。方法:98例中国北方汉族青年急性缺血性卒中按照TOAST标准进行病因分型,检测血浆Fg和tHcy浓度;应用聚合酶链式反应-限制性片段长度多态性对患者和60例相匹配的青年对照者进行Fgβ-148C/T、MTHFR 677C/T多态性分析。结果:本组TOAST病因分型心源性脑栓塞(CE)13.27%,大动脉粥样硬化性卒中(LAA)23.47%,小动脉闭塞性卒中(SAO)28.57%,其他原因引发的卒中(OC)19.39%,原因不明性缺血性卒中(UND)15.31%。TOAST各型青年缺血性卒中血浆Vg、tHcy浓度均明显高于对照组(P〈0.05)。其中,LAA型血浆Fg、tHcy浓度最高,但与其他各型无显著差异(P〉0.05)。缺血性卒中组Fgβ-148和MTHFR 677 T等位基因频率和各基因型与对照组无显著差异(P〉0.05)。LAA型Fgβ-148T等位基因频率和CT+TT型比例显著高于对照组(P〈0.05),其余各型无显著差异(P〉0.05)。与吸烟、饮酒进行联合分析,缺血性卒中组Fgβ-148或MTHFR 677基因T携带者同时吸烟或饮酒所占比例均高于对照组,但仅Fgβ-148CT/TT同时吸烟及MTHFR 677 CT/TT同时饮酒比例显著高于对照组(P〈0.05)。结论:青年缺血性卒中病因复杂,血浆Fg和tHcy浓度增高是青年缺血性卒中的独立危险因素。Fgβ-148T等位基因可能是大动脉粥样硬化性卒中的遗传易感因素。Fgβ-148与MTHFR 677T等位基因分别与吸烟、饮酒协同作用影响青年缺血性卒中的发病。  相似文献   

2.
脑梗死与ACE、APOE、MTHFR和Fgβ四种基因多态性的关系研究   总被引:1,自引:1,他引:0  
目的探讨肾素-血管紧张素转换酶基因(ACE)插入/缺失多态性(I/D)、载脂蛋白E基因(APOE)多态性、纤维蛋白原(Fg)β基因148C/T及亚甲基四氢叶酸还原酶基因(MTHFR)677C/T多态性与脑梗死易感性之间的关系。方法选取按年龄、性别、有无高血压及糖尿病病史相匹配的脑梗死病例组及非心脑血管病对照组各100例,根据TOAST分型法将100例脑梗死患者分成大动脉粥样梗死组(n=31)及小动脉闭塞组(n=69),并调查其危险因素。利用聚合酶链反应-变性高效液相色谱法(PCR-DHPLC)确定四种多态性的基因型。结果在大动脉粥样硬化组及相应对照组Fgβ148CT/TT基因型分布差异有统计学意义(OR9.757,95%CI1.168~81.467,P=0.035);ACEID/DD基因型,MTHFRCT/TT基因型和Fgβ CT/TT基因型之间有协同作用(OR3.907,95%CI1.160~13.162,P=0.028);吸烟的Fgβ CT/TT或APOEε4ε3基因型携带者在病例组的分布明显高于对照组(OR4.854,95%CI1.817~12.970,P=0.002。OR7.792,95%CI1.517~40.010,P=0.014);饮酒与Fgβ CT/TT基因型之间亦有明确的协同作用(OR:22.647,95%CI2.952~173.756,P=0.003)。结论Fgβ 148CT/TT基因型可能是大动脉粥样硬化性脑梗死的危险因素;同时携带ACEID/DD基因型、MTHFRCT/TT基因型和Fgβ CT/TT基因型,携带Fgβ CT/TT基因型同时吸烟或饮酒,携带APOEε4ε3基因型同时吸烟均增加脑梗死的易感性。  相似文献   

3.
目的探讨同型半胱氨酸(Hcy)水平及亚甲基四氢叶酸还原酶(MTHFR)基因多态性与河南汉族人群脑梗死的相关性。方法运用循环酶法和PCR-限制性片段长度多态性分析检测河南汉族300例脑梗死患者及261例健康对照者Hcy水平及MTHFR C677T基因型,并进行测序验证。结果病例组和对照组平均空腹血浆Hcy水平差异有显著性(P<0.01);MTHFR C677T在患者组TT型、CT型频率及T等位基因频率均显著高于对照组,差异有统计学意义(P<0.01);两组不同基因型相应的Hcy浓度差异有统计学意义(P<0.01),TT型与CT型显著高于CC型(P<0.01)。Logistic回归分析结果显示:在调整传统危险因素后,MTHFR C677T基因突变及升高的Hcy水平和脑梗死发病相关。结论血浆Hcy浓度升高是河南汉族脑梗死的独立危险因素;MTHFR C677T基因突变可影响Hcy水平,可能是脑梗死发生的重要机制之一。MTHFR基因突变可能是河南汉族人群中脑梗死发病中的一个重要危险因素。  相似文献   

4.
MTRR A66G、MS D919G、MTHFR C677T基因多态性与脑梗死的关系   总被引:1,自引:1,他引:0  
目的 探讨MTRR A66G、MS D919G、MTHFR C677T基因多态性与脑梗死的关系。方法 选择136例脑梗死(CI)患者和70例对照,用PCR-RFLP方法分析其MTRR、MS和MTHFR基因型。结果 CI组和对照组的MTRR A66G多态性的分布差异无显著性意义(X^2=1.645,P=0.439);CI组与对照组相比,MS D919G各基因型的频率差异无显著性意义(X^2=1.040,P=0.595);两组的MTHFR C677T各基因型的频率差异也没有显著性意义(X^2=1.399,P=0.497)。结论 通过实验推测MTRR A66G、MS D919G、MTHFR C677T基因多态性不是CI的独立遗传危险因素。  相似文献   

5.
目的探讨脑梗死合并或不合并阻塞性睡眠呼吸暂停低通气综合征(OSAHS)患者纤维蛋白原(Fg)β-148C/T基因多态性频率分布及其与血浆Fg水平的关系。方法用聚合酶链反应限制性片段长度多态性(PCR-RFLP)分析方法对脑梗死组(135例)依据睡眠呼吸监测的结果分为合并OSAHS组(CI+OSAHS组)、不合并OSAHS组(CI组)和对照组(120例)进行研究,分析Fgβ-148C/T基因多态性频率分布;凝血酶原时间法测定血浆Fg水平。结果脑梗死伴OSAHS组、脑梗死不伴OSAHS组CC基因型频率显著低于对照组(P<0.05),CT+TT基因型频率均显著高于对照组(P<0.05)。OSAHS组与对照组比较不同基因型频率无显著性差别(P>0.05)。脑梗死伴OSAHS组、脑梗死不伴OSAHS组和OSAHS组的血浆Fg水平均高于对照组,差异有统计学意义(P<0.05),脑梗死伴OSAHS组血浆Fg水平高于脑梗死不伴OSAHS组(P<0.05),脑梗死伴OSAHS组和脑梗死不伴OSAHS组CT+TT基因型组血浆Fg水平仍高于148CC基因型组(P<0.05)。结论Fgβ-148C/T基因多态性可能是通过等位基因T影响血浆Fg水平,在脑梗死的发生机制中起作用,OSAHS患者罹患脑梗死的几率更高。  相似文献   

6.
目的评价血浆半胱氨酸(Hcy)及亚甲基四氢叶酸还原酶(MTHFR)C677T基因多态性与非心源性脑梗死患者颅内动脉粥样硬化性大血管病变(LVD)的关系。方法共纳入非心源性脑梗死患者552例,测定血浆同型半胱氨酸浓度、MTHFR C677T基因型、脑核磁共振及核磁共振脑血管成像造影,以评价颅内动脉狭窄-闭塞程度和数目积分(LVD积分)。结果纳入552例脑梗死患者中,MTHFR C677T基因型中CC基因型148例(26.8%),CT基因型293例(53.1%),TT基因型111例(20.1%),基因型分布符合Hardy-Weinberg遗传平衡(χ~2=2.371,P0.250);合并颅内动脉狭窄342例,无颅内动脉狭窄210例,颅内动脉狭窄组血浆Hcy浓度显著高于无颅内动脉狭窄组(t=10.502,P=0.032),组间MTHFR C677T基因型分布有显著性差异(χ~2=7.066,P=0.039),多元回归分析显示,高Hcy血症为急性脑梗死患者存在颅内动脉狭窄的独立危险因素(OR1.650,95%CI 1.123~3.021,P=0.034),MTHFR C677T的TT基因型并非为颅内动脉狭窄的独立危险因素(OR1.015,95%CI 1.010~2.532,P=0.079);MTHFR C677T不同基因型组间血浆Hcy浓度有显著性差异(F=7.283,P 0.001),LVD积分无显著性差异(F=2.993,P=0.067),血浆Hcy浓度与颅内血管LVD积分呈正相关关系(r=0.365,P=0.009),高Hcy血症与颅内动脉LVD积分相关(OR1.531,95%CI 1.172~1.463,P=0.040)。结论高同型半胱氨酸血症与颅内动脉LVD具有相关性,MTHFR C677T基因多态性与高同型半胱氨酸血症有相关性,但与颅内动脉动脉粥样硬化无相关性。  相似文献   

7.
亚甲基四氢叶酸还原酶基因 C677T多态性与脑梗死的关系   总被引:1,自引:0,他引:1  
目的 探讨亚甲基四氢叶酸还原酶(MTHFR)基因C677T多态性与脑梗死的关系.方法 应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法检测72例脑梗死患者和69例对照者的MTHFR基因C677T多态性分布,并进行对比分析.结果 对照组MTHFR基因型CC、CT、TT频率分别为11.6%、44.9%和43.5%,脑梗死组分别为15.3%、50.0%和34.7%,两组各基因型分布间差别无显著性意义(P>0.05);对照组等位基因C、T频率分别为34.0%、65.9%,脑梗死组分别为40.3%、59.7%,两组等位基因的分布间差别无显著性意义(P>0.05).结论 本研究未发现MTHFR基因C677T多态性与脑梗死之间存在相关关系,应进一步行大样本的流行病学研究,以明确二者的相关性.  相似文献   

8.
目的:研究纤维蛋白原(Fibrinogen,Fg)Bβ-148C/T、448G/A基因多态性对血浆Fg浓度、分子功能的影响及其与脑梗死类型的关系。方法:选取2002.11~2003.10在开滦神经内科住院脑梗死患者160例,将其分为脑动脉主干支(Main—trunk cerebralinfarction,MCl)与穿通支梗死(Penetrating cerebral infarction,PCD组,同时选取162名正常志愿者为对照组,应用聚合酶链反应-限制性片段长度多态法检测其Fgβ-148C/T和448G/A基因多态性,并测定血浆Fg浓度、分子功能及各项相关指标。结果MCI组血浆Fg浓度、FMPV/AMAX高于对照组,FMPV/AMAX高于PCI组:Bβ148CC基因型人群MCI组FMPV/AMAX高于PCI组及对照组,突变基因型人群MCI组血浆Fg浓度高于PCI组及对照组;β448GG基因型人群MCI和PCI病人仅FMPV明显高于对照组,突变基因型人群MCI组血浆Fg浓度、FMPV、FMPV/AMAX高于对照组,但仅Fg浓度高于PCI组;三组中Bβ-148CC、CT、TT和Bβ448GG、CA、AA基因型构成比无差别,各基因型人群中各型脑梗死的分布频率也无差异;PCI纽CT+GA这一突变连锁基因型的构成比高于对照组.且此连锁基因型人群中MCI和PCI组的血浆Fg浓度高于对照组。结论:Bβ-148突变基因型通过直接影响血浆Fg浓度和与机体生理、环境等因素的交互作用对Fg的分子功能产生影响.而易发M  相似文献   

9.
目的探讨5,10-亚甲基四氢叶酸还原酶(MTHFR)基因C677T突变与再发脑梗死的关系。方法收集脑梗死患者及对照组的血液标本,采用聚合酶链式反应-限制性片段长度多态性分析法分析其MTHFR基因C677T突变。结果初发脑梗死组MTHFR基因C677T突变率为68.0%,再发脑梗死组突变率为69.5%,均高于对照组46.3%,差异均有显著性(P〈0.05);初发脑梗死组与再发脑梗死组MTHFR基因C677T突变率没有显著性差异(P〉0.05)。结论MTHFR基因C677T突变可能与脑梗死的发病有关,但与脑梗死发病的次数无关。  相似文献   

10.
目的探讨纤溶酶原激活物抑制剂-1(PAI-1)-675 4G/5G及纤维蛋白原(Fg)β-148C/T基因多态性与脑梗死的关系。方法检测140例健康体检者(对照组)和220例脑梗死患者(CI组)PAI-1-675 4G/5G及Fgβ-148C/T基因多态性,并分析两组基因在正常人群及脑梗死患者中的频率分布特点。结果CI组Fgβ-148C/T位点T等位基因频率为0.33,对照组为0.225,两组比较差异具有统计学意义(P=0.0026)。CI组PAI-1-675 4G等位基因频率为0.48,对照组为0.56,两组比较差异具有统计学意义(P=0.037),以5G/5G基因型作为参考,4G/4G基因型发生CI的OR值为0.52(95%CI:0.282~0.958,P=0.027);携带CC和4G/4G基因型发生CI的OR值为0.48(95%CI:0.253~0.91,P=0.023)。结论本研究发现Fgβ-148T等位基因是CI发病的危险因素,4G/4G纯合子是CI的保护因素,CC基因型加强4G/4G基因型的CI保护作用。  相似文献   

11.
目的分析人群纤维蛋白原(fibrinogen,Fg)Bβ-1420G/A、-993C/T、1689T/G、BsmAIG/C、I6I/D、345C/T、HinfIA/C基因分布特征及其与血浆Fg浓度和分子活性功能的关系。方法采用整群抽样的方法选取开滦集团离退休职工940人,均留取清晨空腹静脉血测定血糖、尿酸等生化指标;应用PCR-RFLP、AS-PCR和基因测序方法检测FgBβ链7位点的基因型;采用微机辅助血浆Fg功能自动监测系统测定血浆Fg浓度和纤维蛋白单体聚合反应速率(FMPV)、最大光密度(Amax)、FMPV/Amax等反映Fg分子聚合功能的参数。结果仅FgBβ链-1420基因多态性位点变异基因型的分布频率高于其野生型的分布频率,达61.5%,而其余6位点则均以野生基因型分布占优势。Fg 7个多态性位点各基因型人群之间的血浆Fg浓度、FMPV、Amax及FMPV/Amax均无统计学差异(P>0.05)。依据多因素分析结果进行分层分析,以尿酸分层时可见高尿酸组与尿酸正常组FMPV/Amax比较有统计学差异(P<0.05)。结论 FgBβ链5′端启动子区-1420G/A、-993C/T,转录区外显子345C/T和内含子1689T/G、BsmAIG/C、I6I/D及3′端Hinf IA/C基因多态性位点对血浆Fg浓度和分子活性功能的表达没有直接明显影响,但其形成的特殊基因连锁板块对血浆Fg功能表达的影响尚需进一步研究。  相似文献   

12.
13.
Migraine is a common neurological disorder characterized by recurrent attacks, unilateral head pain, and related symptoms. The aim of this study was to investigate three endothelial nitric oxide synthase (eNOS) polymorphisms in 176 patients with migraine and 123 healthy individuals. Clinical and biochemical parameters were investigated. Genetic analysis was performed using the polymerase chain reaction–restriction fragment length polymorphism method. The differences between migraine cases and the control group were significant for two polymorphisms (?786T/C and 894G/T) (p = 0.000). Homocysteine and body mass index (BMI) were significantly higher in the migraine group than in the control group (p = 0.001 and p = 0.000). The relation between ?786T/C genotype and BMI and allodynia was significant. TC heterozygotes and CC homozygotes were significantly higher in the migraine group than in the control group (OR 2.843 and 95 % CI 1.681–4.808 and OR 3.729 and 95 % CI 1.784–7.792, respectively). The 894G/T genotype was correlated with BMI, pain intensity, age at the onset of migraine, nausea, tension, compression, and allodynia. For this polymorphism, GT heterozygotes and TT homozygotes were significantly higher in the migraine group than in the control group (OR 3.027 and 95 % CI 1.830–5.008 and OR 3.221 and 95 % CI 1.223–8.484, respectively). The G10T genotype was correlated with attack duration and age at the onset of migraine (p = 0.008 and p = 0.040). eNOS polymorphisms may be useful markers for assessing migraine risk and clinical diagnosis.  相似文献   

14.
Platelet plays a pivotal role in the pathogenesis of thrombotic cardiovascular diseases. Recently, the polymorphism of platelet glycoprotein (GP) genes has been reported to be associated with an increased risk for ischemic stroke. The purpose of this study is to evaluate the association between platelet GP genetic variants and ischemic stroke in young Taiwanese. We conducted a case-control study in 157 young ischemic stroke patients recruited between September 2001 and March 2003 and 157 age- and sex-matched controls. The genotypes of platelet GP Ia C807T, GP Ib C3550T, and GP IIIa Pl(A1/A2) polymorphisms were analyzed by polymerase chain reaction-restriction fragment length polymorphism. Student's t-test, chi-square test, and logistic regression modeling were used for data analyses. The GP Ia C807T CC, CT and TT genotype frequencies were similar between patients (50.3%, 43.9%, 5.7%) and controls (53.5%, 38.9%, 7.6%; p=0.58). There were no significant differences in GP Ib C3550T CC and CT genotype distributions between patients (91.1%, 8.9%) and controls (91.7%, 8.3%; p=0.84). Of all subjects, none carries GP IIIa Pl(A2) mutation. In conclusion, platelet GP Ia C807T and GP Ib C3550T polymorphisms in our population are less common compared with Caucasians, and GP IIIa Pl(A1/A2) genetic mutation is not found, and all of them are not associated with ischemic stroke in young Taiwanese.  相似文献   

15.
This study investigates whether three platelet glycoprotein (GP) polymorphisms, C807T in GP Ia, Pl(A1/A2) in GP IIIa, and -5 T/C Kozak in GP Ibalpha gene, influence the density of the three important adhesion and activation receptors on the platelet surface. Fifty-four healthy donors were genotyped according to the three polymorphisms, and densities of the corresponding GPs were measured by flow cytometry. Our study confirmed the association between C807T polymorphism and platelet surface expression of GP Ia-IIa and GP Ia and demonstrated that the density of GP Ibalpha or GP IX is not associated with the Kozak polymorphism. Although the Pl(A1/A2) polymorphism did not affect the expression of GP IIb-IIIa and GP IIIa on the platelet surface, flow-cytometric analysis employing murine monoclonal antibody SZ21 against GP IIIa can be applied to distinguish Pl(A1/A1) and Pl(A1/A2) polymorphism.  相似文献   

16.
Glycogen synthase kinase-3 (GSK-3) is a downstream component of the Wnt pathway and recent studies have reported abnormal levels of GSK-3beta in schizophrenia. In a sample of 147 schizophrenic patients and 212 healthy individuals, we analyzed two common SNPs at position -1727 A/T and -50 C/T and a (CAA)(n) repeat polymorphism localized in intron 1 of the gene. The results showed that the allele, genotype and haplotype distributions for the three polymorphisms investigated do not differ between schizophrenic patients in general and control subjects. However, in the subtype of paranoid schizophrenic patients, we found that the (CAA)(3)/(CAA)(5) heterozygotes were more often represented. Although taken from a small sample, our results support the reports that GSK-3beta appears to be involved in a subtype of schizophrenic patients, but not in schizophrenia in general. In conclusion, we would speculate that this gene may be linked to some features of psychotic disorders rather than to schizophrenia itself.  相似文献   

17.
Needle electrical cervical root stimulation may be performed lateral to the C5/C6 or C7/T1 spinous process interspaces. Pneumothorax has been reported following C7/T1 root stimulation. We evaluated the efficacy of a modified C5/C6 stimulation technique in exciting C8/T1 roots in 15 normal subjects and 36 patients with motor neuron disease (204 procedures). No instances of a 50% or greater amplitude decline occurred. C5/C6 interspace stimulation, therefore, may be used to excite C8/T1 roots while minimizing pneumothorax risk.  相似文献   

18.
目的研究广西正常人群中轴索生长抑制因子(Neurite growth inhibitor,Nogo)基因rs2919126C/T位点和rs7575107G/T位点多态性分布特点,并分析其在不同人群中的分布差异。方法采取多重单碱基延伸法(SNa Pshot)与DNA测序法对323例广西人群的Nogo基因rs2919126C/T位点和rs7575107G/T位点进行基因分型检测,并用统计学方法比较其基因型和等位基因频率在不同性别及组间分布差异。结果 rs2919126C/T存在CC、CT、TT 3种基因型,分布频率为6.5%、33.4%、60.1%,此位点基因型及等位基因频率在广西人群的男女之间差异无统计学意义(P>0.05)。其基因型和等位基因与国际人类基因组单体型图计划(HapMap)公布的欧洲和非洲人群的比较差异有统计学意义(P<0.01);rs7575107G/T存在GG、GT、TT 3种基因型,分布频率为2.5%、24.8%、72.7%,此位点基因型及等位基因频率在广西人群的男女之间无统计学意义(P>0.05)。基因型和等位基因频率与非洲人群之间差异均有统计学意义(P<0.01)。结论 Nogo基因rs2919126C/T位点和rs7575107G/T位点基因多态性在不同种族和地区间存在着不同程度差异。这种差异可能对研究在不同人群间Nogo基因多态性和疾病的相关性起到指导作用。  相似文献   

19.
Patients suffering from psychosis show increased blood and fibroblast total polyamine levels. Spermidine/spermine N1-acetyltransferase (SSAT-1) and its coding gene (SAT-1) are the main factors regulating polyamine catabolism. The aim of the present study was to examine the association between the SAT-1 -1415T/C single nucleotide polymorphism (SNP) and schizophrenia. A case-control design was used in order to compare the genotypes for the SNP between schizophrenia patients (n = 180, 83 females and 97 males), other non-psychotic psychiatric patients (n = 413, 256 females and 157 males), and healthy controls (n = 251, 101 females and 150 males).  相似文献   

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