云南佤族脑梗死与ApoE基因多态性相关性研究

发布时间：2018-03-20 01:09

  本文选题：佤族　切入点：载脂蛋白E　出处：《昆明医科大学》2014年硕士论文　论文类型：学位论文

【摘要】：研究背景：脑梗死(C1)是一组由多种危险因素共同影响的疾病,基因多态性可能为脑梗死的发病机制之一。载脂蛋白E(Apolipoprotein E, ApoE)主要存在于血浆的某些脂蛋白内,是一种直接参与胆固醇代谢的糖蛋白,通过低密度脂蛋白(LDL)受体和低密度脂蛋白受体相关蛋白(LRP)参与机体脂质代谢及调节胆固醇平衡,影响成人血脂的浓度。ApoE参与脑磷脂代谢,维持了细胞间脂类的重新分布及胆固醇内环境的稳定。近年来的一些研究表明载脂蛋白E基因的多态性与脑血管病的发生密切相关,但又因种族、地域、年龄等因素的影响而呈现出各不相同的表现。本研究旨在评价研究云南特有少数民族佤族载脂蛋白E基因多态性与脑梗死(C1)的关系,并与汉族脑梗死患者进行对比。 研究方法：①.选择临沧地区4所医院(临沧市耿马县医院、沧源县医院、临沧市第二人民医院、云县县医院)经头颅CT确诊的佤族脑梗死(C1)患者54例,进行载脂蛋白E (ApoE)基因的多态性分析,选取的患者均为佤族；发病年龄在40岁至80岁之间；男性患者28人,女性患者26人,平均年龄(59.00±7.75)岁。选择佤族健康人群56例为正常对照组,其中男性27人,女性29人,平均年龄(56.64±8.29)岁；选择55例汉族脑梗死患者为汉族脑梗死组,其中男性27人,女性28例,平均年龄(56.96±8.29)岁。②采用聚合酶链式反应(Polymerase chain reaction, PCR)对载脂蛋白E基因多态性进行分析。③对样本进行基因正反向测序检验。④对结果分别进行病例组与正常对照组、病例组与汉族脑梗死、不同组之间血脂分别进行对照。 结果：1.在佤族脑梗死中ε3的基因频率为69,占63.9%,其次是ε4为35,占32.4%,ε2为4,占3.7%；汉族脑梗死中ε3的基因频率为64,占58.2%,其次是ε4为40,占36.4%,ε2为6,占5.5%；在佤族正常对照组中,ε3为98,占87.5%,其次是ε4为11,占9.8%,ε2为3,占2.8%。三组之间进行等位基因频率的卡方检验,X2=23.64,P0.01,有统计学意义,差异显著。佤族脑梗死与汉族脑梗死对照组比较,X2=0.38,P0.05,没有统计学意义,等位基因无差异。佤族脑梗死组与佤族正常对照组间进行比较,X2=16.96,P0.01,有统计学意义,有显著差异性。 2.等位基因ε2、ε3、ε4携带的胆固醇、甘油三酯及低密度脂蛋白不相同,三组间进行方差分析,P0.050,差异有统计学意义。两组间两两比较：ε2与ε3进行比较P0.050,有统计学意义,ε2携带的TG均比ε3携带的高,ε3携带的LDL-C比ε2高；ε2与ε4进行对比,P0.010,有统计学意义,差异显著。其中ε4携带的TC及LDL-C均高于ε2,ε2携带的TG高于ε4：ε3与ε4进行比较,P0.010,有统计学意义,差异具有显著性,其中ε4携带的TC及LDL-C高于ε3,ε3携带的TG高于ε4。 结论：1.本实验针对云南特有少数民族佤族脑梗死人群进行研究,佤族脑梗死发病年龄多集中在40至80岁之间,男女人群发病率未见明显差异,此分布特征与国内、国际的相关研究类似。 2.云南特有少数民族佤族ApoE基因多态性与脑梗死关系密切,ε4等位基因是脑梗死遗传易感基因,同时也是汉族脑梗死遗传易感基因,ε3等位基因可能是脑梗死的保护基因,佤族脑梗死和汉族脑梗死之间ApoE基因多态性无明显的差别。 3.通过基因测序可以发现：佤族的基因长度、位置及基因序列与汉族人群未见明显差异。 4. ApoE基因多态性影响血脂水平,通过引起血脂代谢紊乱而增加脑梗死发病危险性。
[Abstract]:Background: cerebral infarction (C1) is a group of multiple risk factors for disease, possible genetic polymorphism is one of the pathogenesis of cerebral infarction. Apolipoprotein E (Apolipoprotein E ApoE) some lipoprotein mainly exists in plasma, is a kind of directly involved in cholesterol metabolism by low density glycoprotein. Lipoprotein (LDL) receptor and low density lipoprotein receptor related protein (LRP) involved in lipid metabolism and regulation of cholesterol homeostasis, the influence of the concentration of.ApoE in the brain of adult blood phospholipid metabolism, maintain cholesterol redistribution and intercellular lipid homeostasis. Some recent studies have shown that polymorphisms and cerebrovascular load apolipoprotein E gene is closely related to the occurrence of the disease, but also because of race, region, age and other factors influence the different performance. The purpose of this study is to evaluate the research of Yunnan minority nationalities wa The relationship between the polymorphism of the apolipoprotein E gene and the cerebral infarction (C1) was compared with the Han patients with cerebral infarction.
Research methods: 1. Select 4 hospitals in Lincang area (Lincang Gengma county hospital, Cangyuan county hospital, the second people's Hospital of Lincang Yunxian County, the county hospital) diagnosed by brain CT of the cerebral infarction (C1) patients with 54 cases of apolipoprotein E (ApoE) gene polymorphism analysis, selection of patients for wa the age of onset; between 40 and 80 years old; 28 male patients, 26 female patients, mean age (59 + 7.75) years old. 56 cases of healthy crowd wa as normal control group, including 27 males, 29 females, mean age (56.64 + 8.29) years; 55 cases of cerebral infarction in Han nationality Han patients with cerebral infarction group, 27 males, 28 females, mean age (56.96 + 8.29) years old. The polymerase chain reaction (Polymerase chain reaction, PCR) on apolipoprotein E gene polymorphism analysis. The sample of this gene is the reverse sequencing test. Results the case group and the normal control group, the case group and the Han cerebral infarction, the blood lipids were compared between the different groups.
Results: 1. in the wa epsilon in gene frequency of 3 cerebral infarction was 69, accounting for 63.9%, followed by 4 to 35, accounting for 32.4%, 2 to 4, accounting for 3.7%; Han CI epsilon in gene frequency of 3 to 64, accounting for 58.2%, followed by 4 to 40, accounting for 36.4%, 6 E 2, accounting for 5.5%; in the control group, 3 of 98, accounting for 87.5%, followed by 4 to 11, accounting for 9.8%, epsilon 2 is 3, accounted for the allele frequencies of 2.8%. between the three groups by chi square test, X2=23.64, P0.01, have statistical significance, the difference was significant. The cerebral infarction and the Han nationality cerebral infarction control group, X2=0.38, P0.05, no statistical significance, no difference in allele. Compared to the normal control group and cerebral infarction group the X2=16.96, P0.01, have statistical significance, there are significant differences.
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