青少年载脂蛋白E、载脂蛋白B基因多态性与冠心病的关系

目的　探讨青少年载脂蛋白 E、载脂蛋白 B基因多态性对冠心病的遗传易感性。方法　采用聚合酶链反应 -限制性片段长度多态性 ( PCR- RFL P)技术 ,对 15 2名健康汉族大学生 (冠心病家族史阳性者 67人 ,阴性者 85人 )的 apo E、apo BXba I、apo B3 ' VNTR基因型进行分析。结果　阳性组的 e4、x+ 、VNTR- B( HVE>3 8)等位基因频率显著高于阴性组 ( P<0 .0 5 ) ,且与血 TC、L DL - C、apo B10 0水平升高有显著相关 ( P<0 .0 5 )。结论　 apo E的 e4、apo BXba I的 x+ 、apo B3 ' VNTR的 VNTR- B可能为冠心病的重要遗传标记     

载脂蛋白E等位基因多态性与冠心病相关性的研究

对103例冠心病患者和100例正常对照者提取外周血白细胞DNA,采用PCR方法扩增apo E基因片段,经Hha I酶切,聚丙烯酰胺电泳分离,测得天津地区汉人apo R等位基分布,E4/3、E4/2、E3/3、E3/2在冠心病组和对照组基因频率分别为:0.068、0.019、0.854、0.058和0.060、0.010、0.800、0.130.E4/3基因型携带者胆固醇平均水平较高,E3/2基因型携带者甘油三酯平均水平较高.apo E基因多态性与冠脉受累数目无关.     

老年人冠心病载脂蛋白E基因多态性的临床意义

目的：载脂蛋白Ｅ（ＡｏｏＥ）基因的多态性对老年冠心病发病的意义。方法：选择１００例老年冠心病患（ＣＨＤ组）及１００例键康。测定其血清血脂及脂蛋白「（ＬＰ（ａ）」。应用聚合酶链反应法（ＰＣＲ）,Ｈｈａｌ内切酶消化法确定ＡｏｏＥ基因多态性。结果：在冠心病组和对照组间ＡｏｏＥ基因频率及Ｅ２、Ｅ３、Ｅ４等位基因频率有显差异（Ｐ〈０．０５）;本组Ｅ４／３、Ｅ３／３基因组间比较,冠心病组ＴＣ、ＴＧ、Ａｏ     

冠心病患者载脂蛋白E基因多态性研究

目的 :探讨载脂蛋白 E(apo E)基因多态性与早发冠心病 (CHD)患者的关系以及对中国人血脂水平的影响。　　方法 :选择 6 8例年龄≤ 5 5岁的 CHD患者为 CHD1 组、136例年龄≥ 6 5岁的 CHD患者为 CHD2 组及 136例健康对照者为对照组 ,测定空腹血清甘油三酯 (TG)、总胆固醇 (TC)和高密度脂蛋白胆固醇 (HDL- C)水平 ;应用聚合酶链反应 ,Hha I内切酶消化及聚丙烯胺疑胶电泳的方法确定 apo E基因多态性。　　结果 :Apo E3/ 4基因型频率和 E4等位基因频率在 CHD1 组明显高于 CHD2 组和对照组 (P<0 .0 1) ,CHD2 组和对照组无差别。 CHD1 组与对照组血脂水平无差别 ,而 CHD2 组的 TC、低密度脂蛋白 (L DL - C)水平明显高于 CHD1 组和对照组 (P<0 .0 1)。不同的 apo E基因型其 TC、L DL- C浓度存在显著性差异。　　结论 :Apo E基因多态性是影响 TC、L DL- C水平的重要遗传因素之一 ;Apo E4与 CHD有明显的相关性 ,即 apo E4可能是早发 CHD独立的易患遗传危险因素。     

载脂蛋白E基因多态性与冠心病的关系

目的 研究载脂蛋白E(ApoE)基因多态性与冠心病发病及对血脂代谢影响的关系。方法 对71例冠心病患者(CHD组)和69例正常对照者(对照组)的静脉全血白细胞提取DNA,应用PCR,HhaI酶切,用12％聚丙烯酰胺凝胶电泳,检测出其ApoE基因型及等位基因分布频率。结果 CHD组及对照组均检出4种基因型,分别是E     

载脂蛋白E基因多态性与冠心病的关系

探讨中国人群载脂蛋白Ｅ(ａｐｏＥ)基因多态性与冠心病(ＣＨＤ)的相关性。1 资料与方法 :收集 117例ＣＨＤ患者和 16 6例非ＣＨＤ患者 (对照组 )的临床资料 ,均经住院检查 (包括选择性冠状动脉造影等检查 )确诊。采用聚合酶链反应 限制性片段长度多态性 (ＰＣＲ ＲＦＬＰ)的方法检测ａｐｏＥ基因型。以单基因模式 (指就给定的等位基因 ,对纯合子和杂合子有相同程度的侧重 )进行病例对照分析。用ＳＰＳＳ软件进行统计学分析 ,采用 χ2 检验。2 结果 :共检出 5种不同ａｐｏＥ基因型 ,未检出ε2 / 2基因型。ＣＨＤ组ε4 / 3基因型频率 (2 9 1…     

载脂蛋白E基因多态性与冠心病关系的研究

目的：探讨载脂蛋白（Ａｐｏ）Ｅ基因多态性与冠心病的相关性，以及ＡｐｏＥ基因多态性对冠心病患者血脂水平的影响。方法：１００例冠心病患者和４３例正常对照者。按常规方法测定血浆脂质和Ａｐｏ水平。ＡｐｏＥ基因型的确定采用聚合酶链反应和ＨｈａＩ酶切的方法。结果：本研究只发现３种常见的ＡｐｏＥ基因型，即Ｅ３／３，Ｅ３／４，Ｅ３／２。在病例组和正常对照组之间，ＡｐｏＥ等位基因频率以及基因型频率分布没有统计学差异（Ｐ＞０．０５）。在冠心病患者不同基因型之间，总胆固醇和ＡｐｏＢ的水平有差异（Ｐ＜０．０５）；其它血脂指标无差异（Ｐ＞０．０５）。结论：本研究证实ＡｐｏＥ基因多态性影响冠心病患者总胆固醇和ＡｐｏＢ的水平；但ＡｐｏＥ基因多态性并不是冠心病发病的直接危险因子。     

载脂蛋白B、E基因多态性对调脂疗效的影响

目的　观察小剂量辛伐他汀治疗高脂血症的疗效及载脂蛋白B、E基因变异对调脂药物疗效的影响。方法　选择高脂血症患者 88例 ,服用辛伐他汀 5mg,每晚 1次 ;于治疗前及治疗开始后第 4、8、12周抽血化验血脂指标。采用RFLPs方法检测ApoB基因XbaI位点多态性及ApoE基因多态性。结果　 88例高脂血症患者中X+ 等位基因相对频率为 0 .0 5 6 8,X- 等位基因相对频率为 0 .9432。ε2等位基因相对频率为 0 .1818,ε3等位基因相对频率为 0 .5 795 ,ε4等位基因相对频率为 0 .2 386。辛伐他汀可有效降低血胆固醇 (TC)、甘油三酯 (TG)、低密度脂蛋白 (LDL C)和ApoB水平。X+ X- 组的TC降低百分率较X- X- 组小 (13.6 4%比 2 3.88% ,P <0 .0 5 )。ε2 +基因型组TG、ApoB基础水平较ε3 3、ε3 4组高 (P <0 .0 5 ) ,治疗中ApoB下降百分率较ε3 3、ε3 4组大 (P <0 .0 5 )。结论　高脂血症患者中ApoB基因X+ 等位基因相对频率增高 ,携带此等位基因的人群其接受降脂治疗时疗效相对较差。高脂血症患者ApoE基因ε2、ε4等位基因相对频率增高 ,ε2等位基因与降脂治疗时ApoB变化大者相关     

老年冠心病患者载脂蛋白E基因多态性检测的临床意义

目的：探讨载脂蛋白E(apoE)基因多态性与老年冠心病的关系及其对血脂、脂蛋白水平的影响。方法：应用聚合酶链反应—限制性片段长度多态性法(PCR—RFLP)检测l25例老年冠心病患者和ll6例健康老年人(对照组)的apoE基因型；按常规方法测定血浆脂质、脂蛋白水平。结果：冠心病组及对照组共检出6种基因型，分别为：E2／2、E2／3、E3／3、E3／4、E4／4、E2／4；冠心病组E3／3基因型频率(51．2％)和ε3等位基因频率(73．2％)明显低于对照组(69．8％和84．0％，P＜o．05)；E3／4基因型频率(30．4％)和ε4等位基因频率(17．6％)明显高于对照组(11．2％和6．9％，P＜0.05)；冠心病组总胆固醇(TC)、低密度脂蛋白—胆固醇(LDL—C)水平明显高于对照组(P＜0.05)；冠心病患者中E2／3、E3／3、E3／4基因型之间TC、LDL—C水平差异有显著性(P＜0.05)。结论:ε4等位基因是冠心病重要的遗传标记；apoE基因多态性可能通过影响血脂水平而影响冠心病的发生。     

载脂蛋白E基因多态性与冠心病的相关性

目的 探讨载脂蛋白E基因遗传变异与冠心病病变程度的相关性及对预后的影响.方法 抽取251例冠心病患者和200例对照者,应用常规方法测定血脂和脂蛋白水平,采用聚合酶链反应限制片长多态性技术对两组载脂蛋白E基因型频率分布进行分析.结果 共检测出5种基因型,分别为载脂蛋白ε3/3、ε3/2、ε4/3、ε4/2及ε4/4,ε2/2未见.不同载脂蛋白E等住基因型对血脂、脂蛋白水平的作用具有较大差异;在正常血脂水平亚组,冠心病组载脂蛋白ε4/3基因型和ε4等位基因频率明显高于对照组,ε3/3基因型和ε3等位基因频率则明显低于对照组;而在高脂血症亚组,两组之间载脂蛋白E各基因型和等位基因型频率均未见统计学差异.冠心病组心功能Ⅲ～Ⅳ级患者的载脂蛋白ε4/3基因型和ε4等位基因频率高于心功能Ⅰ～Ⅱ级患者,并具有较低的ε3/3基因型频率.结论 载脂蛋白E基因多态性与冠心病的发生发展密切相关,且对心脏功能有一定的作用;载脂蛋白ε4/3基因型和ε4等位基因是冠心病发病重要的遗传易患标记之一,并可能与冠心病心功能低下或心脏事件的发生有关;ε3/3基因型为冠心病的保护因子.     

载脂蛋白E基因多态性对血脂及冠心病、颈动脉粥样硬化的影响

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Relationship of apolipoprotein E polymorphism with lipid profiles in atherosclerotic coronary artery disease

AimsThe aim was to determine the relationship between apolipoprotein E (ApoE) gene polymorphisms and lipid profile in patients with coronary artery diseases (CAD), and its role in the prediction of the severity of carotid and coronary atherosclerosis.Methods and resultsOne hundred patients were classified by coronary angiography: 80 patients with CAD and 20 controls (normal coronary angiography). Clinical data, carotid sonography, blood lipid profiles and ApoE genotyping (PCR-RFLP) were assessed. CAD patients had significantly increased plasma lipid profiles and carotid intimal-wall thickness (IMT) versus controls. In CAD patients; ApoE genotype frequencies were E3/E3 = 62.50%, E2/E3 = 18.75%, E3/E4 = 17.50%, E2/E4 = 1.25%, E4/E4 = 0 and E2/E2 = 0. But, E3/E4 genotype was significantly higher than controls (P < 0.05). Also, in CAD patients; ApoE allele frequencies were E3 = 80.6%, E2 = 10.0% and E4 = 9.4% but, ApoE4 alleles were associated with higher cholesterol (P = 0.034) and LDL-c (P = 0.003), while ApoE2 alleles were associated with higher triglycerides (P = 0.037) versus ApoE3 alleles. However, odds ratio of CAD patients had higher risk with E2/E3 genotypes (2.5-fold), E2 alleles (2.2-fold) and E4 alleles (2.1-fold). Moreover, CAD patients with ApoE4 alleles had significantly higher carotid IMT (1.23 ± 0.26 mm vs 0.97 ± 0.2 mm ApoE3, P = 0.006; however, non-significant vs 1.10 ± 0.40 mm ApoE2 and also, ApoE2 vs ApoE3 alleles, P = 0.633) and left anterior descending (LAD) coronary artery stenosis (vs ApoE3 alleles, P = 0.016).ConclusionIschemic patients with carotid and coronary atherosclerosis had significantly higher integration of dyslipidemia and ApoE alleles (ApoE2 with hypertriglyceridemia and ApoE4 with hypercholesterolemia and higher LDL-c). ApoE polymorphism may be an important diagnostic risk biomarker and may implicate therapeutic intervention in atherosclerotic ischemic patients.     

载脂蛋白E基因多态性对脑容积的影响

载脂蛋白E（ApoE）是人血浆主要载脂蛋白之一,其基因多态性与多种神经系统疾病如阿尔茨海默病的发生有关,但具体致病机制不清。近年来国外一些研究发现ApoE基因多态性对阿尔茨海默病患者及正常老年人的脑容积有明显的影响,为阐述该基因对神经系统影响的机制提供了新的思路。     

Genetics of apolipoprotein B and apolipoprotein AI and premature coronary artery disease

Increased low-density lipoprotein (LDL) and decreased high-density lipoprotein cholesterol (HDL-C) predict premature coronary artery disease, as do elevated levels of apolipoprotein B or reduced levels of apolipoprotein AI. Probands were studied of families with common genetic forms of dyslipidaemia to determine if apo B or apo AI define genetic groups and if apo B or apo AI levels relate to premature coronary artery disease risk. Elevated apo B was characteristic of familial hypercholesterolaemia, familial combined hyperlipidaemia (FCHL), and was seen in individuals with elevated Lp(a). Normal apo B levels were seen in familial hypertriglyceridaemia and in 'coronary artery disease with low-HDL cholesterol'. Apo AI levels tended to be low in FCHL and were decreased in 'coronary disease with low-HDL cholesterol'. In familial hypertriglyceraemia, even though HDL-C levels were low, normal apo AI and apo B levels were seen in the absence of premature coronary artery disease. Therefore, in genetic dyslipidaemias elevated apo B levels and reduced apo AI levels (or increased apo B/AI ratio) differ and predict premature coronary artery disease.     

载脂蛋白E基因多态性与冠心病关系的研究

目的：探讨载脂蛋白Ｅ（ａｐｏＥ）基因多态性在冠心病（ＣＨＤ）发生发展中的作用及其对血脂质、脂蛋白水平的影响。方法：应用聚合酶链反应技术和遗传学方法,测定９３ 例ＣＨＤ患者和９４例正常对照者的ａｐｏＥ基因型;按常规方法测定血浆脂质、脂蛋白水平。结果：共发现５ 种ａｐｏＥ基因型,分别为Ｅ３／３、Ｅ３／２、Ｅ４／３、Ｅ４／２和Ｅ４／４。ＣＨＤ组ａｐｏＥ４／３ 基因型和ε４ 等位基因频率及总胆固醇（ＴＣ）、低密度脂蛋白胆固醇（ＬＤＬ－Ｃ）均显著高于对照组（均Ｐ＜ ０．０１）,ａｐｏＡＩ的水平高于对照组（Ｐ＜ ０．０５）,其他血脂指标无显著性差异（ Ｐ＞ ０．０５）。在ＣＨＤ组各亚型之间,ＴＣ、ＬＤＬ－Ｃ和ａｐｏＡＩ水平之间存在显著性差异（Ｐ＜ ０．０５）。结论：ａｐｏＥε４ 等位基因是ＣＨＤ重要的遗传易患因素,ａｐｏＥ基因多态性亦影响血ＴＣ、ＬＤＬ－Ｃ和ａｐｏＡＩ水平。     

Angiotensin-converting enzyme and apolipoprotein B polymorphisms in coronary artery disease

The association between angiotensin-converting enzyme (ACE) as well as apolipoprotein B polymorphisms and dyslipidemia and coronary artery disease (CAD) is controversial. We assessed the distribution of ACE insertion and/or deletion, apolipoprotein B signal peptide insertion and/or deletion, and apolipoprotein B XbaI restriction fragment length polymorphisms in 388 nondiabetic patients. We studied 112 patients with angiographically defined asymptomatic CAD or with stable functional classes I and II angina and 139 patients with acute myocardial infarction who were age matched to 137 control subjects. Univariate analysis showed higher prevalence of Xba50% reduction of lumen diameter. Overall, multivariable regression disclosed traditional risk factors and elevated levels of apolipoprotein B for men and reduced levels of apolipoprotein AI for women as independent variables for CAD. After adjustment for the most important subset of risk factors (age, hypertension, hypercholesterolemia, and smoking), apolipoprotein B XbaI polymorphism was disclosed as an independent variable for CAD. Apolipoprotein B XbaI was also selected as an independent variable for acute myocardial infarction after adjusting for age, hypertension, hypercholesterolemia, and smoking. Thus, in addition to traditional coronary risk factors, apolipoproteins B and AI, and apolipoprotein B XbaI polymorphism could be considered predictors of CAD.     

Effect of genetic factors on the association between coronary artery disease and PTPN22 polymorphism

PTPN22 has been previously found associated with coronary artery disease(CAD). In the present note we have studied the effect of p53 codon 72,acid phosphatse locus 1(ACP1) and adenosine deaminase(ADA) genetic polymorphism on the strength of association between PTPN22 and CAD. We have studied 133 non diabetic subjects with CAD,122 non diabetic cardiovascular patients without CAD and 269 healthy blood donors. Informed written consent was obtained from all subjects and the study was approved by the Ethical Committee. A high significant association between PTPN22 and CAD is observed in carriers of *A allele of ACP1 with a higher proportion of *T allele carriers in non diabetic subjects with CAD as compared to controls and to non diabetic subjects with cardiovascular diseasewithout CAD. A similar pattern is observed in carriers of *Pro allele of p53 codon 72 with a higher proportion of *T allele carriers in non diabetic subjects with CAD as compared to other groups. A highly significant association between PTPN22 and CAD is observed in carriers of ADA2 *2 allele with higher proportion of *T allele carriers in non diabetic subjects with CAD as compared to other group. There is a high significant correlation between the number of factors that contributes to increase the strength of association between PTPN22 *T and CAD and the proportion of *T carriers in CAD. ACP1,p53 codon 72 and ADA are involved in immune reaction and give an important additive contribution to the strength of association between PTPN22 and CAD. This study stresses the importance of the simultaneous analysis of multiple genes functionally related to a specific disease: the approach may give important hints to understand multifactorial disorders.