MTHFR、CBS基因多态性与脑血管病的相关性研究

目的 研究MTHFR、CBS基因多态性与脑血管病的遗传相关性。方法采用限制性内切酶片段长度多态性方法，对54例脑梗死、27例脑出血及96例健康人MTHFR基因C677T、CBS基因T27796C多态性位点进行检测。结果MTHFR C677T位点与脑梗死及脑出血均有显著相关，两组与对照组之间T／C等位基因频率存在差异。TT型携带者较CC型患脑血管病的风险高。CBS T27796C位点与脑血管病无明显相关。结论 MTHFR基因可能是脑血管病的一个易感基因。CBS基因T27796C多态性位点与脑血管病无明显相关。     

蒙古族脑卒中患者5,10-亚甲基四氢叶酸还原酶、内皮型一氧化氮合酶、β-1肾上腺素能受体和G蛋白β3亚单位基因多态性的研究

目的 研究蒙古族脑卒中患者5,10-亚甲基四氧叶酸还原酶(MTHFR)基因C677T、内皮型一氧化氮合酶(eNOS)基因G894T、β-1肾上腺素能受体(ADRB1)基因G1165C、G蛋白β3亚单位(GNB3)基因C825T位点的多态性.方法 用PCR方法检测68例蒙古族脑卒中患者和107名健康对照者上述4个基因位点的多态性.用Logistic回归分析基因多态性与脑卒中的关系.结果 脑卒中组eNOS基因G894T位点T等位基因频率显著高于正常对照组(P<0.01);两组MTHFR基因C677T位点、ADRB1基因G1165C位点、GNB3基因C825T位点基因型及等位基因频率比较差异无统计学意义.Logistic回归分析显示eNOS基因G894T位点GT基因型是脑卒中发病的独立危险因素(OR为4.550,95%CI为1.324～15.633,P<0.05).结论 eNOS基因G894T GT基因型是蒙古族脑卒中患者发病的独立危险因素;MTHFR基因C677T位点、ADRB1基因G1165C位点、GNB3基因C825T位点多态性与蒙古族脑卒中无明显关系.     

5,10-亚甲基四氢叶酸还原酶基因多态性及补充叶酸与非综合征性唇腭裂的相关性

背景：对于5, 10-亚甲基四氢叶酸还原酶(5, 10-methylene tetrahydrofolate reductase, MTHFR)基因C677T位点多态性与唇腭裂相关性的研究国内外结果不一,未见结合干预因素叶酸影响的相关报道。 目的：探讨河南地区汉族人群MTHFR基因C677T位点多态性及补充叶酸与非综合征性唇腭裂的发病关系。 方法：选取2008-09/2010-03在郑州大学第一附属医院及郑州市第一人民医院整形外科就诊的非综合征性唇腭裂患者110例,采用PCR-RFLP法检测外周血中MTHFR基因C677T位点基因型并与40例健康对照比较频数差异。同时结合母孕期是否补充叶酸进行统计学分析。 结果与结论：病例组和对照组C677T基因型及等位基因频率比较差异均具有显著性意义(P < 0.01),且有家族史的患者TT基因型及T等位基因频率高于无家族史患者(P < 0.05)。对母孕期是否补充叶酸进行比较,发现非综合征性唇腭裂与叶酸摄入呈负相关(χ2=4.304,r=-0.169,P < 0.05)。结果提示MTHFR基因C677T位点突变与河南汉族人群非综合征性唇腭裂的发生相关,母孕期补充叶酸能降低非综合征性唇腭裂的发病风险。     

SAD、VD与MTHFR基因C677T多态性的相关性分析

目的为了阐明痴呆与亚甲基四氢叶酸还原酶(MTHFR)基因C677T突变的关系,我们进行了MTHFR基因C677T多态性的研究。方法收集散发性痴呆(SAD)患者135例、血管性痴呆(VD)29例及健康老年人(≥65岁)138例外周静脉血样本,采用PCR-RFLP方法检测基因型,计算各等位基因频率或突变频率。结果老年健康人群、SAD病人、VD病人MTHFR基因的C677T多态位点中T位点的频率分别为43．8%、46．3%、51．7%,病例组T频率略高于对照组,经统计分析各组间无显著性差异。结论单独携带MTHFR基因的C677T多态性T位点不会增加患痴呆的风险,提示MTHFR基因的C677T多态性对痴呆可能有弱的致病作用或无致病作用。     

N5,N10-亚甲基四氢叶酸还原酶基因多态性和血浆同型半胱氨酸水平与双相情感障碍的相关性研究

目的探讨N^5，N^10-亚甲基四氢叶酸还原酶（MTHFR）基因C677T多态性和血浆同型半胱氨酸水平（Hcy）与双相情感障碍的关系。方法选取61例双相情感障碍患者和73例正常者，采用荧光偏振免疫法测定血浆同型半胱氨酸（Hcy）浓度，运用聚合酶链反应-限制性内切酶片段长度多态性分析技术（PCR-RFLP），检测MTHFR基因C677T多态性。结果双相情感障碍患者组（以下简称BP组）血浆Hcy水平明显高于对照组（t=8．219，P〈0．001）。BP组MTHFR基因C677T突变纯合子（TT型）频率及T等位基因频率均较对照组明显升高（P〈0．05）。BP组TT型Hcy浓度比CT型和CC型高（P〈0．05）。结论血浆Hcy水平升高可能是双相情感障碍发病的一个危险因素。MTHFR基因C677T多态性与双相情感障碍的发生有关。     

5，10-亚甲基四氢叶酸还原酶基因多态性对中国汉族人群缺血性脑血管病可能不是一个危险因素：一个临床荟萃分析

[摘要] 目的：估评5,10 -甲基四氢叶酸还原酶（MTHFR）基因多态性（TT基因型 或T等位基因）是否是缺血性脑血管疾病（ICVD）的危险因素。方法：通过电脑查找Medline数据库上所有公开发表的有关缺血性脑血管病MTHFR的基因型研究、这些研究均是针对人类的病例对照研究。有18个研究小组的论文资料被鉴定适合作荟萃分析。在这18个研究小组中有6个是专门针对中国汉族人群进行的研究，被特别提取出来进行分析。结果：4295例缺血性脑血管病例和6169例正常对照在这一研究报告中使用了荟萃分析。脑血管病组和正常对照组比较，不仅MTHFR基因的TT基因型两组有显著性差异（X2 =15.74, P﹤0.01)、而且T等位基因频率两组有显著性差异（X2 =9.19, P﹤0.01)。另外，就中国汉族人群中脑血管病组和正常对照组比较，MTHFR基因的TT基因型(X 2 = 1.076, P﹥0.05)和T等位基因频率( X 2 = 2.434, P﹥0.05 )两组分别比较均无显著性差异。 结论：该荟萃分析表明，MTHFR基因的TT基因型和T等位基因在世界较大范围内是缺血性脑血管病的危险因素；但是针对中国汉族人群而言，MTHFR基因的TT基因型和T等位基因均不是缺血性脑血管病的危险因素。     

N5,10-亚甲基四氢叶酸还原酶基因多态性与脑血管病的关系研究

目的　探讨 N5,1 0 -亚甲基四氢叶酸还原酶 ( MTHFR) 677C→T位点突变与晚发型脑血管病的关系。方法　采用多聚酶链反应 -限制性内切酶片段长度多态性 ( PCR-RFLP)方法测定 1 0 7例脑血管病患者及 78例健康对照组 MTHFR基因多态性。结果　 ( 1 )两组 MTHFR基因型频率分布差异有显著性 ( P <0 .0 1 )。患者组纯合子 ( T/ T)突变频率 ( 2 2 .4% )较对照组 ( 1 9.0 % )升高 ,但统计学差异无显著性 ( P =0 .0 5 7)。杂合子 ( T/ C)频率( 61 .7% )较对照组 ( 4 1 .8% )明显升高 ,差异有显著性 ( P <0 .0 1 )。脑血管病患者发生 T等位基因型频率也较对照组显著升高 ,差异有显著性 ( P <0 .0 1 )。 ( 2 ) MTHFR677C→T突变基因型的患者或 T等位基因型患者患病的危险性较对照组显著增加 ,杂合子患病的危险性更大。结论　MTHFR677C→ T位点突变增加脑血管病的危险性 ,可能是脑血管病的易感基因。     

亚甲基四氢叶酸还原酶基因多态与河南汉族人群缺血性脑血管病的相关性

目的 研究亚甲基四氢叶酸还原酶(MTHFR)2个常见位点的突变与缺血性脑血管病发病的相关性.方法 选取病例组470例,对照组495名,采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术和TaqMan-MGB探针分型方法进行基因分型.结果 病例组C677T突变的T等位基因突变频率为61.9%,对照组为45.1%,两组相比较差异有统计学意义(X~2=55.089,P＜0.01,OR=1.983,95%CI 1.653～2.378);病例组与对照组C677T多态基因型频率CC、CT、TT型分别为16.6%、43.0%、40.4%及36.6%、36.8%、26.7%,两组间比较CT型(X~2=3.882,P＜0.05,OR=1.296,95% CI 1.001～1.678),TT型(X~2=20.527,P＜0.01,OR=1.866,95%CI 1.423～2.448)分布差异均有统计学意义.病例组与对照组A1298C突变的C等位基因突变频率分别为13.1%和11.2%,基因型频率AA、AC、CC型分别为75.3%、23.2%、1.5%及78.2%、21.2%、0.6%,两组相比A1298C多态的等位基因频率和基因分型的差异均无统计学意义.结论 C677T突变与缺血性脑血管病的发生显著相关,可能是预测河南汉族人群缺血性脑血管病的风险因子,A1298C突变与河南汉族人群缺血性脑血管病无关.     

亚甲基四氢叶酸还原酶基因多态性与血浆同型半胱氨酸水平及青年急性缺血性卒中的相关性研究

目的 探讨同型半胱氨酸（homocysteine,Hcy）代谢酶N5,10-亚甲基四氢叶酸还原酶（N-5,10-methylene tertrahydrofolate reductase,MTHFR）基因多态性与血浆总同型半胱氨酸（total homocysteine,tHcy）水平及青年急性缺血性卒中的相关性。方法 采用病例-对照的方法,对40例青年急性缺血性卒中患者和40例健康体检者的病史和相关实验室检查资料进行记录,并应用高效液相色谱法测定血浆tHcy水平,采用聚合酶链-限制性内切酶片段长度多态性分析技术（polymerase chain reaction restriction fragment length polymorphism,PCR-RFLP）,检测MTHFR C677T、A1298C基因型。结果 ①病例组MTHFR C677T基因突变率（77.5%）及T等位基因频率（53.8%）与对照组（75.0%和50.0%）相比,差异均无显著性（P＞0.05）;②病例组MTHFR A1298C基因突变率（32.5%）及C等位基因频率（17.5%）与对照组（17.5%和8.8%）相比,差异均无显著性（P＞0.05）;③血浆tHcy浓度在MTHFR C677T各基因型间的分布差异有显著性（P＜0.05）。结论 ①Hcy代谢酶MTHFR C677T、A1298C存在基因多态性;②MTHFR C677T基因突变（尤其是TT纯合型突变）可导致血浆tHcy浓度显著增高;③MTHFR C677T、A1298C基因多态性与青年急性缺血性卒中的发病无直接相关性。     

5,10-亚甲基四氢叶酸还原酶基因多态性与脑梗死患者颈动脉粥样硬化的相关性研究

目的探讨血浆同型半胱氨酸(homocysteine,Hcy)代谢酶5,10-亚甲基四氢叶酸还原酶(5,10-methylenetetrahydrofolate reductase,MTHFR)C677T基因多态性与脑梗死患者颈动脉粥样硬化的相关性。方法纳入新发前循环大动脉粥样硬化性脑梗死组患者,以无脑梗死的门诊体检者作为对照组。用荧光偏振免疫法测定两组血浆Hcy水平,彩色多普勒超声进行双侧颈动脉颅外段检查明确是否存在动脉粥样硬化斑块及斑块性质,采用全自动基因芯片检测目标人群MTHFR C677T基因型。结果共纳入新发前循环脑梗死组患者150例,对照组100例。①脑梗死组MTHFR C677T突变(TT)基因型及T等位基因频率显著高于对照组(48.0%vs 19.0%,χ~2=22.067,P0.001;64.0%vs 45.5%,χ~2=6.907,P=0.009);②脑梗死组MTHFR C677T C→T基因突变与颈动脉粥样硬化狭窄程度呈正相关(r=0.353,P0.001);③脑梗死组中不稳定斑块组MTHFR C677T突变(TT)基因型及T等位基因频率显著高于稳定斑块组(66.2%vs 34.1%,χ~2=14.587,P0.001;77.5%vs 60.2%,χ~2=6.978,P=0.008)。结论 MTHFR C677T位点C→T基因突变是颈动脉粥样硬化斑块不稳定性及其狭窄程度的相关危险因素。     

Update on hypertension and Alzheimer's disease

Several studies report that blood pressure is increased in victims of Alzheimer's disease (AD) decades before the onset of the disease. Years before onset of Alzheimer's disease, blood pressure start to decrease and continues to decrease during the disease process. High blood pressure has also been related to pathological manifestations of Alzheimer's disease (senile plaques, neurofibrillary tangles, hippocampal atrophy). The exact mechanism behind these associations is not clear. Hypertension is also a risk factor for stroke, ischemic white matter lesions, silent infarcts, general atherosclerosis, myocardial infarction and cardiovascular diseases, and often clusters with other vascular risk factors, including diabetes mellitus, obesity and hypercholesterolemia. Also these risk factors have been related to Alzheimer's disease. Hypertension may thus cause cerebrovascular disease that may increase the possibility for individuals with AD encephalopathy to express a dementia syndrome. Hypertension may also lead to vessel wall changes in the brain, leading to hypoperfusion, ischemia and hypoxia which may initiate the pathological process of AD. Finally, subclinical AD may lead to increased blood pressure, and similar biological mechanisms may be involved in the pathogenesis of both disorders. Hypertension is a common disorder and often untreated. Several observational studies have reported that use of antihypertensives decreases risk of AD. Even though hypertension only results in a moderately increased risk of AD, or overall dementia, better treatment of hypertension may have an immense effect on the total number of demented individuals.     

Benign intracranial hypertension and Marchiafava-Micheli disease

A 35 year-old caucasian man suffered from paroxysmal nocturnal haemoglobinuria (PNH) or Marchiafava-Micheli's disease diagnosed in 1976 and complicated by several thrombotic episodes. He developed a benign intracranial hypertension. A digitalized intravenous angiography showed occlusion of both lateral sinuses. Partial improvement followed lombo-peritoneal shunting and steroid therapy. Cerebral venous thrombosis is a well-known complication of PNH but only a few cases have been radiologically and/or pathologically proven. It usually involves the superior longitudinal sinus and/or cortical veins resulting in hemorrhagic infarction of poor outcome. Benign intracranial hypertension due to a venous occlusion is rare. In 3 published cases, as in our own, the neurologic outcome was good. Steroid therapy seems useful. The risks of anticoagulant therapy are discussed.     

Moyamoya disease associated with renovascular hypertension

This is a report of a case history of a child with cerebral Moyamoya disease and gradual development of systemic hypertension. Sodium depletion combined with enalapril induced renal failure. A bilateral renal artery stenosis was found. Percutaneous transluminal angioplasty was not successful and was followed by autotransplantation of both kidneys. Histopathological examination of the renal arteries revealed intimal hyperplasia.     

妊娠高血压综合征与远期脑血管病发生的关系

目的探讨妊娠高血压综合征与远期脑血管病的关系。方法选择2002-01—2012-01收治的238例妊娠高血压患者为观察组研究对象,选择同期诊治的320例正常孕产妇为对照组研究对象。比较2组患者临床特点及远期脑血管病的发生情况。结果 2组患者居住地区、体重指数、孕周、妊娠年龄、新生儿出生体质量及文化程度差别具有统计学意义(P0.05);2组产次及新生儿身高差别无统计学意义(P0.05);随访期间观察组患者脑血管病发病率为10.1%,显著高于对照组4.1%,差别具有统计学意义(P0.05);Cox比例风险回归模型分析结果显示:妊娠高血压综合征为脑血管病发病的独立风险因素。结论妊娠高血压患者有自身疾病特点,是远期脑血管病发病的独立风险因素。     

Relationship between late-life hypertension, blood pressure, and Alzheimer's disease

Relationship between late-life hypertension and Alzheimer's disease (AD) remains less clear. Both cross-sectional and longitudinal methods were used to examine whether systolic blood pressure (SBP), diastolic blood pressure (DBP), pulse pressure (PP), mean arterial pressure (MAP), and self-reported hypertension (S-HTN) in late life were associated with having and developing AD. The cross-sectional examination included 1768 individuals with AD and 818 nondemented individuals, and AD was not significantly associated with S-HTN or any of blood pressure measures (S-HTN: P = .236; SBP: P = .095; DBP: P = .429; PP: P = .145; MAP: P = .162). In the longitudinal examination, 594 nondemented individuals, 171 with and 423 without S-HTN at entry, were included. Diastolic blood pressure was significantly related to the development of AD (P = .030) but not S-HTN (P = .251), SBP (P = .294) PP (P = .919), and MAP (P = .060). The association underscores the necessity of further investigation to outline the detailed mechanisms and biological relevance, if any, of late-life DBP to later AD.     

Treatment of migraine in patients with hypertension and ischemic heart disease

Migraine is a common disorder with a prevalence of 9-10% in Hungary. Migraine can be accompanied by hypertension and/or ischemic heart disease sometimes in younger patients, but more frequently in the elderly, which is important for therapeutical considerations. The article reviews the literature with special focus on hypertension and coronary heart disease. In the second part, the authors summarize their experiences on headache patients.     

Idiopathic intracranial hypertension: mechanisms of visual loss and disease management

Idiopathic intracranial hypertension (IIH) is a disorder of increased intracranial pressure of unknown cause. It is a disorder, predominantly of overweight women in the childbearing years. The major morbidity of the disease is visual loss. Damage to the visual system occurs at the optic nerve head. This damage is most likely due to axoplasm flow stasis and resultant intraneuronal ischemia. Management of IIH begins with educating the patient about the disease and its potential outcomes. I recommend modest dieting and following a low-salt regimen with caution against overuse of fluids. Acetazolamide and Lasix appear to be efficacious. Patients failing medical therapy have optic nerve sheath fenestration performed if visual loss is the main morbidity. Shunting procedures are considered if headache is the main symptom. Most patients respond well to therapy, but idiopathic intracranial hypertension may recur throughout life.