青海省藏族人群ApoE基因多态性与脑血管疾病的相关性研究

发布时间：2018-11-23 10:21

【摘要】：目的:探讨青海省藏族人群脑血管疾病患者ApoE基因多态性与脑梗死(CI)和脑出血(ICH)的相关性,通过对ApoE基因多态性与脑血管疾病的研究,对于进一步研究脑血管疾病的遗传背景具有很大意义。方法:实验对象均选择来自青海省人民医院、青海省果洛州人民医院、青海大学附属医院住院病人共94例,其中脑梗死组48例,平均年龄(61.39±10.48)岁;脑出血组46例,平均年龄(63.17±10.92)岁,所选对象均是经过病例排除标准选取。选择来自青海省人民医院体检中心96例藏族年龄、性别、海拔相匹配的健康居民作为研究对象。全部上述研究对象均提取DNA。所有上研究对象均采用实时荧光定量PCR技术检测ApoE基因型并且进行比较。通过基因型推断ApoE基因型与脑梗死和脑出血的相关性,探讨研究ApoE基因型在在藏族人群中的分布。结果:1.在藏族人群脑血管疾病人群中,主要以E2/E3基因型较为常见,CI组中E2/E3基因型为50%、其次为E2/E4(25%)、E3/E3(20.8%),最少见的为E3/E4(4%)、E2/E2(0%)、E3/E3(0%);ICH组内E2/E3(65.2%)最常见,其次为E2/E4(21.7%)、E3/E3(13.0%)。健康对照组中,以E2/E4(64.6%)基因型最多,其次为E2/E3(33.3%)、E3/E4(2.08%),未发现纯合子基因型。2.藏族人群中,CI组以ε3等位基因组最常见,为48.0%,其次是ε2(37.5%)等位基因,最少见的是ε4(14.6%);在ICH组最常见的是ε2(43.5%)、ε3(45.7%)等位基因,,最少见的是ε4(10.9%)。在藏族脑血管疾病患者中ε3是最常见的等位基因。在正常对照组里,ε2(49.0%)为最常见的等位基因,其次是ε4(33.3%),ε3(17.7%)为最少见的。结论:1.ε3等位基因可能为藏族人群脑血管疾病的易感因素,藏族健康对照组以ε2等位基因最常见,可能脑血管疾病的保护因素。2.ApoE在藏族人群中,主要以杂合子E2/E3、E2/E4为主,纯合子相对较少,提示可能高原低压缺氧的环境为基因型的突变提供了有利因素。3.藏族人群的血清脂蛋白谱TG值在不同等位基因型中有差异,推断不同等位基因可能对血清中脂类代谢有影响。
[Abstract]:Objective: to investigate the association of ApoE gene polymorphism with cerebral infarction (CI) and cerebral hemorrhage (ICH) in Tibetan patients with cerebrovascular disease in Qinghai province, and to study the relationship between ApoE gene polymorphism and cerebrovascular disease. It is of great significance to further study the genetic background of cerebrovascular diseases. Methods: a total of 94 inpatients were selected from Qinghai Provincial people's Hospital, Guoluozhou people's Hospital and affiliated Hospital of Qinghai University, including 48 patients with cerebral infarction with an average age of (61.39 卤10.48) years. The average age of 46 patients with intracerebral hemorrhage was (63.17 卤10.92) years old. A total of 96 healthy Tibetan residents from the physical examination Center of Qinghai Provincial people's Hospital were selected as subjects. DNA. was extracted from all the above research objects. The genotypes of ApoE were detected by real-time fluorescence quantitative PCR and compared with each other. The relationship between ApoE genotype and cerebral infarction and cerebral hemorrhage was inferred by genotypes, and the distribution of ApoE genotype in Tibetan population was studied. Results: 1. In Tibetan population, E2/E3 genotype was more common, E2/E3 genotype was 50% in CI group, followed by E2/E4 (25%), E3/E3 (20.8%), E3/E4 (4%). E2/E2 (0%), E3/E3 (0%); E2/E3 was most common in ICH group (65.2%), followed by E2/E4 (21.7%) and E3/E3 (13.0%). In the healthy control group, E2/E4 (64.6%) genotype was the most common, followed by E2/E3 (33.3%) and E3/E4 (2.08%). No homozygous genotype was found. In Tibetan population, 蔚 3 allele was the most common allele in CI group (48.0%), followed by 蔚 2 allele (37.5%) and 蔚 4 (14.6%). The most common alleles in ICH were 蔚 2 (43.5%), 蔚 3 (45.7%) and 蔚 4 (10.9%). 蔚 3 is the most common allele in Tibetan patients with cerebrovascular disease. In normal controls, 蔚 2 (49.0%) was the most common allele, followed by 蔚 4 (33.3%) and 蔚 3 (17.7%). Conclusions: 1. 蔚 3 allele may be the susceptible factor of cerebrovascular disease in Tibetan population, 蔚 2 allele is the most common allele in Tibetan healthy control group, and may be the protective factor of cerebrovascular disease. 2.ApoE is the most common factor in Tibetan population. The heterozygotes E2 / E3 / E2 / E4 and homozygotes were relatively few, suggesting that the hypobaric environment at high altitude might provide favorable factors for genotype mutation. The TG values of serum lipoprotein profiles were different among different alleles in Tibetan population. It was concluded that different alleles might have an effect on lipid metabolism in serum.
【学位授予单位】：青海大学
【学位级别】：硕士
【学位授予年份】：2017
【分类号】：R743

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