摘要
目的:探讨载脂蛋白E(apoE)基因多态性与心脑血管疾病以及血脂、脂蛋白水平的相关性。方法:以139例心脑血管疾病患者和116例对照人群为研究对象,采用聚合酶链反应酶切技术以及血脂、脂蛋白生化检测技术,分析apoE基因多态性在两组人群中分布的差异性以及与多种心脑血管疾病发生、血脂水平的相关性。结果:apoE基因多态性在对照组和病例组的分布不同,虽均以载脂蛋白ε3等位基因所占比例最高,但ε3在对照组中高于病例组,而ε2及ε4在病例组中高于对照组,P=0.006,差别具有显著意义;分别计算脑出血、高血压、冠心病、II型糖尿病、脂肪肝各种合并症组中,E2/3、E3/4型所占比例均高对照组,而E3/3型所占比例均低于其在对照组中所占比例,P=0.02,差别具有显著意义;分析血脂、脂蛋白等指标,携带ε2等位基因的甘油三酯水平高于携带ε3和ε4的,携带ε4等位基因的总胆固醇等其余指标高于携带ε3和ε2的,但这一趋势并非均有统计学意义。结论:载脂蛋白ε2及ε4等位基因在心脑血管疾病人群中分布较高提示两者可能是心脑血管疾病发病的危险因素之一;ε2等位基因与甘油三酯升高呈相关趋势,ε4等位基因与总胆固醇、低密度脂蛋白等升高呈相关趋势。
Objective： To establish the allelic and genotypic frequencies related to apolipoprotein E （apoE） polymorphism and association of polymorphism with serum lipid profiles and atherosclerosis disease. Methods ： 139 patients of clinically proven cerebral infarction disease （combining other cardio and cerebral vascular diseases） and 116 age- and sex -matched control subjects were included in the study. ApoE genotypes were determined by polymerase chain reaction - restriction fragment length polymorphism （ PCR - RFLP） ; Serum lipids including cholesterol, triglycerides, high- density lipoprotein, apolipoprotein A1, apolipoprotein B100 and low -density lipoprotein were analyzed. Results： The frequencies （%） of theε2, ε3, ε4 alleles were 6.9, 87.93 and 5.17 in control group and 10.8, 77.3, 11.9 in patient group respectively; and of the genotypes were as follows： E2/2 （0）, E2/3 （ 12.93）, E2/4（0. 86）, E3/3 （77.59）, E3/4 （7.76）, FA/4 （0.86） in control group and E2/2 （0）, E2/3（19.4）, E2/4（2.2）, E3/3 （59）, E3/4 （17.3）, E4/4 （2.2） in patient group respectively. There was a significant difference of the allelic/genotypie frequencies between control and patient group （ patients with one disease or patients with one more related diseases） （ P 〈 0.05 ）. No significant differences were found in lipid levels among different alleles/genotypes, although there was a statistically insignificant trend towards that individuals with theε2 alleles had high levels of triglycerides and low levels of cholesterol, low - density lipoprotein et. al, and they were opposite to individuals with theε4 alleles. Conclusions： The high prevalence of theε2 andε4 alleles in the patient population suggests that this polymorphism might be one risk factor of atherosclerosis, probably by affecting lipoprotein metabolism which result in the pathogenesis of hyperlipidemia and atherosclerosis.
出处
《中国民康医学》
2006年第3期88-91,94,共5页
Medical Journal of Chinese People’s Health
关键词
载脂蛋白E
聚合酶链反应
基因多态性
动脉粥样硬化
血脂
Apolipoproteins E
Polymerase Chain Reaction
Genetic polymorphism
Atherosclerosis
Serum lipid
