A racial difference in apolipoprotein E allele frequencies between the Japanese and Caucasian populations

We have examined the apo E phenotype frequencies in the Japanese population (n = 576, 16-78 years of age). Apo E phenotypes were determined by the rapid flat gel isoelectric focusing method that we previously reported. The apo E phenotype frequencies in the Japanese were 0.3% for E2/2, 6.1% for E3/2, 71.9% for E3/3, 0.7% for E4/2, 19.3% for E4/3 and 1.7% for E4/4. The apo E allele frequencies were 0.037, 0.846 and 0.117 for the epsilon 2, epsilon 3 and epsilon 4 alleles, respectively. These frequencies were compared with those in the Caucasian populations (n = 3033) reported by Sing & Davignon (1985). There was a significant difference in the apo E phenotype frequencies between the Japanese and Caucasian populations. In addition, a significantly lower frequency of the epsilon 2 and epsilon 4 alleles and a significantly higher frequency of the epsilon 3 allele were found in the Japanese than those reported for the Caucasian populations. It is concluded that there is a racial difference in the apo E allele frequencies between the Japanese and Caucasian populations.     

载脂蛋白E基因敲除小鼠在动脉粥样硬化研究中的应用

载脂蛋白E基因敲除小鼠是目前在动脉粥样硬化 (AS)研究领域中应用最多的基因工程动物。参考国内外应用载脂蛋白E基因敲除小鼠研究AS的有关文献 ,就其AS病灶形成的规律及形态学改变 ,有氧运动和饮食对该小鼠AS病灶的影响 ,关于调脂药物和其它药物研究情况 ,骨髓移植和基因治疗对该种小鼠AS病灶的影响等方面作一综述 ,以期将这种基因工程小鼠动物模型更广泛地应用于中西医药研究     

Genetic study of Apolipoprotein E gene,alpha‐1 antichymotrypsin gene in sporadic Parkinson disease

Several lines of evidence have suggested some common genetic risk factors for Alzheimer disease (AD) and Parkinson disease (PD) because there are some overlapping pathologies in these two neurodegenerative diseases. In the present study, we investigated the role of Apolipoprotein E gene polymorphism and the signal peptide polymorphism in alpha‐1 antichymotrypsin (ACT) gene in idiopathic sporadic PD. The study was performed in a sample consisting of 68 PD cases and 160 healthy subjects in Shanghai China. We found no significant differences of ACT gene polymorphic distribution between PD cases and controls. The ApoE gene ε2/ε4 genotype was significantly more frequent in PD subjects (χ² = 7.126, df = 1, P = 0.008) and conferred a 12.70 times susceptibility for PD (OR = 12.62, 95% CI: 1.445–110.17, χ² = 5.259, P < 0.05, AF = 4.59%). No interaction of ApoE and ACT genes was detected in PD. Therefore, our data suggested that the ApoE ε2/ε4 genotype might be a susceptibility variant of moderate effect for sporadic idiopathic PD in our samples, whereas the ACT gene signal peptide polymorphism might not. © 2002 Wiley‐Liss, Inc.     

中老年男性血糖与血清脂质及载脂蛋白的关系

目的　研究血糖水平与脂质及载脂蛋白水平的关系。方法　对成都地区 735例 40～ 70岁男性空腹 12～ 14小时的血糖、血清甘油三酯 (TG)、胆固醇 (TC)、高密度脂蛋白胆固醇 (HDL- C)、低密度脂蛋白胆固醇(L DL- C)和血清载脂蛋白 (apo) A 、A 、B10 0、C 、C 及 E含量进行了测定。依空腹血糖的水平将受试对象分为正常组 (S1)、糖耐量减退组 (S2 )、糖尿病组 (S3)。结果　结果显示 :S2和 S3的高脂血症发病率比 S1高 (分别为64.5 %、45 .2 %和 32 .1% ) ;空腹 TG水平 S2 (3.62± 2 .5 2 mm ol/ L)和 S3(4 .45± 3.82 mmol/ L)均显著高于 S1(1.92± 1.93m mol/ L) ,P均 <0 .0 1;TC水平 S2 (5 .68± 1.15 mmol/ L)和 S3(5 .68± 1.12 m mol/ L)亦显著高于 S1(5 .13±1.0 6m mol/ L) ,P均 <0 .0 5 ;S2和 S3的血清 apo B10 0、C 、C 及 E水平显著高于 S1(P均 <0 .0 1或 P<0 .0 5 )。相关分析表明 ,血糖与血清 TG在 S1、S2和 S3中均呈显著正相关 (r分别为 0 .180 0、0 .1436和 0 .32 12 ) ,P均 <0 .0 0 1;而在 S2和 S3中血糖与 HDL- C呈负相关 (r分别为 - 0 .2 5 34和 - 0 .1477) ,P均 <0 .0 0 1;在 S1、S2、S3组中血糖与血清 apo B10 0、C 及 E呈正相关 (P均 <0 .0 0 1) ,与 apo C 则在 S1和 S2中呈正相关 (P<0     

Presence of apolipoprotein E on extracellular neurofibrillary tangles and on meningeal blood vessels precedes the Alzheimer β-amyloid deposition

The localization of apolipoprotein E (ApoE) has been examined immunohistochemically in the autopsied brains of middle-aged and old-aged control subjects, with and without amyloid protein (A) deposits, and of Alzheimer's disease patients. Senile plaques were consistently labeled with ApoE antiserum even in the very early stage of senile plaque formation seen in the fifth decade. In the cerebellar molecular layer, small dots of ApoE immunoreactivity, which were prominent in the Alzheimer's disease subjects, were observed in addition to immunoreactivity in diffuse plaques. ApoE antisera labeled all of the extracellular neurofibrillary tangles (NFT), whereas only a small minority of extracellular NFT were positive for A. A punctate pattern of ApoE immunoreactivity was seen at the media of the meningeal vessels lacking amyloid, when senile plaques were present in the nearby cortex. In the early stage of amyloid angiopathy, the distribution of ApoE immunoreactivity was much more extensive than that of A positivity. These findings suggest that ApoE accumulates in the early stage of senile plaque formation and, furthermore, that ApoE accumulation precedes A deposition in extracellular NFT and amyloid angiopathy.     

Association of apolipoprotein ɛ4 allele and neuropathologic findings in patients with dementia

Apolipoprotein E (APOE) is a lipoprotein expressed in liver and brain as one of three isoforms (APOE 2, APOE 3 and APOE 4). Recent findings suggest that the presence of APOE 4 is associated with an increased risk for both familial Alzheimer's disease and late-onset Alzheimer's disease. We extended these observations by determining the frequency of APOE alleles in patients with pathologically confirmed Alzheimer's Disease (AD), Parkinson's disease (PD), diffuse Lewy Body disease (DLBD), AD with concomitant PD pathology, demented PD patients without or with concomitant AD pathology and in schizophrenics with a progressive dementia (SCHIZ+DEM). The APOE genotype was determined by restriction digestion of polymerase chain reaction-amplified DNA isolated from frozen brain samples. The frequency of the APOE 4 allele was highest among sporadic AD and DLBD patients (0.30 and 0.38, respectively) and lowest in the SCHIZ+DEM and non-demented PD patients (0.06 and 0.1, respectively). Thus, the APOE 4 allele is over-represented selectively in patients with dementias associated with plaques and tangles and/or cortical Lewy bodies, but not in demented schizophrenics or non-demented PD patients.     

吸烟与动脉硬化性脑梗塞关系的研究

目的：探讨吸烟与动脉硬化性脑硬塞（ＡＳＣＩ）的关系。方法：对１０２例ＡＳＣＩ患者及１０８例正常人血清载脂蛋白（Ａｐｏ－Ｂ）、高密度脂蛋白胆固醇（ＨＤＬ－Ｃ）、总胆固醇（ＴＣ）进行测定及对比分析。结果：ＡＳＣＩ组Ａｐｏ－Ｂ比对照组显著升高（Ｐ＜０．０１）,ＨＤＬ－Ｃ比对照组显著降低（Ｐ＜０．０１）,而ＴＣ两组间无明显差异（Ｐ＞０．０５）。在对照组及ＡＳ－ＣＩ组吸烟者Ａｐｏ－Ｂ均高于非吸烟者（Ｐ＜０．０１,Ｐ＜０．０５）,而ＨＤＬ－Ｃ吸烟者明显低于非吸烟者（Ｐ＜０．０１）。结论：吸烟能促使血清Ａｐｏ－Ｂ增高及ＨＤＬ－Ｃ下降,可以认为吸烟是ＡＳＣＩ的危险因素之一。     

载脂蛋白(a)亚型与脑梗塞的病因学联系

为探讨 Ｌｐ（ａ）、ａｐｏ（ａ）与脑梗塞病因学的关系,阐明ａｐｏ（ａ）基因表型对脑梗塞的调控作用,检测了 ９０ 例经 Ｃ Ｔ 确诊的脑梗塞患者血清 Ｌｐ（ａ）含量,并分离出 １３ 种 ａｐｏ（ａ）表型,与对照（以年龄、性别配比）比较。结果表明,高 Ｌｐ（ａ）者（≥３０ｍ ｇ／ｄｌ）患脑梗塞的危险性为正常者（＜ ３０ｍ ｇ／ｄｌ）的 ３５６ 倍（ Ｐ＜ ０．０１）,ａｐｏ（ａ）分子量与 Ｌｐ（ａ）水平呈高度负相关,ｒ＝ － ０．４８１,说明 ａｐｏ（ａ）大小决定了约 ４８％ 的 Ｌｐ（ａ）水平。ａｐｏ（ａ）等位基因 Ｌｐ Ｂ、 Ｌｐ Ｓ１、 Ｌｐ Ｓ２ 可能是易发脑梗塞者的基因标志。     

Apolipoprotein E polymorphisms and the risk of nonlesional temporal lobe epilepsy

PURPOSE: To evaluate whether the inheritance of the apolipoprotein E (ApoE) epsilon4 allele is a risk factor for nonlesional temporal lobe epilepsy (TLE), and to determine whether the newly described -491 A/T ApoE polymorphism may independently affect the risk of nonlesional TLE. METHODS: The study group consisted of 63 patients (35 women and 28 men; age at onset of epilepsy, 30.6 +/- 19.6 years; mean (+/-SD). All of them had received a diagnosis of nonlesional TLE after a detailed clinical, electroencephalographic, and brain magnetic resonance investigation. The ApoE polymorphisms were determined from blood samples by standard methods. The molecular study also was performed in 220 age- and sex-matched normal individuals. RESULTS: There were no differences between TLE patients and controls in either allelic or genotypic frequencies of the ApoE and -491A/T polymorphisms. Moreover, no effect of ApoE or -491A/T polymorphisms was found on the age at onset and severity of epilepsy. CONCLUSIONS: The allelic and genotypic frequencies of ApoE polymorphisms in Italian patients with nonlesional TLE are comparable to control values, indicating that ApoE polymorphisms are not a significant genetic risk factor for the occurrence of nonlesional TLE.     

突聋病人血液流变学及血脂代谢研究

目的探讨血液流变学和血清脂质代谢变化与突发性耳聋(突聋)的关系。方法检测50例突聋病人及50例对照者血液流变学参数及血清中甘油三酯(TG)、总胆固醇(CHO)、高密度脂蛋白胆固醇(HDL-CH)、低密度脂蛋白胆固醇(LDL-CH)、载脂蛋白A(ApoA)、载脂蛋白B(ApoB)和脂蛋白(a)[LP(a)]的含量。结果突聋组全血比粘度、全血还原比粘度、血浆粘度和红细胞压积均增高,与对照组比较差异有显著性(P<0.01);突聋组TG、LDL-CH、ApoB和LP(a)水平较对照组显著增高(P<0.01),HDL-CH较对照组显著降低(P<0.01)。两组间CHO和ApoA无显著性差异(P>0.05)。结论 血液流变学及血脂代谢的异常改变可能与突聋的发生相关。