中国人内源性高甘油三酯血症与载脂蛋白A5基因-1131T>C多态性、S19W多态性的相关性  

Association of Apolipoprotein A5 gene-1131T>C and S19W Polymorphisms with the Endogenous Hypertriglyceridemia in Chinese

作　　者：汤轶波[1] 顾丽萍[2] 孙屏[1] 郭冬平[1] 李晓宇[1] 陈琪[1] 范乐明[1] 

机构地区：[1]南京医科大学动脉粥样硬化研究中心,江苏省南京市210029 [2]张家港市第一人民医院检验科,江苏省张家港市215600

出　　处：《中国动脉硬化杂志》2005年第6期785-788,共4页Chinese Journal of Arteriosclerosis

基　　金：国家863高科技研究发展计划资助项目(2002BA711A08)

摘　　要：目的探讨中国人内源性高甘油三酯血症患者载脂蛋白A5基因的-1131T>C多态性及S19W多态性与血脂水平的关系。方法用聚合酶链反应—限制性片断长度多态性分析,对182名内源性高甘油三酯血症患者和200名血脂正常者的载脂蛋白A5基因启动子上游-1131T>C单核苷酸多态性、编码区的S19W(c.56C>G)多态性、空腹血脂及载脂蛋白水平进行分析。结果患者的体质指数、血清总甘油三酯和总胆固醇水平较对照组显著升高,高密度脂蛋白胆固醇水平则显著降低。-1131T/C单核苷酸多态性位点T和C等位基因频率在病例组和对照组分别为52.7%、47.3%和67.0%、33.0%。等位基因频率和基因型频率分布符合Hardy-Weinberg平衡定律。T/C基因多态性等位基因T和C频率在两组间的差异有显著性(P<0.05);S19W多态性与内源性高甘油三酯血症发病风险未见明显相关性。结论载脂蛋白A5基因-1131C等位基因与血清甘油三酯的升高相关。Aim To investigate the relationship between apolipoprotein A5 gene - 1131T 〉 C polymorphism, S19W polymorphism and the serum lipid levels in Chinese patients with endogenous hypertriglyceridemia. Methods The restriction fragmem length polymorphism （RFLP） of - 1131T〉 C and S19W was studied using polymerase chain reaction （PCR） in 200 healthy subjects and 182 subjects with endogenous hypertriglyceridemia from a population of Chinese Han nationality in Jiangsu Province. Results The frequencies of T, C alleles of-1131T〉C polymorphism were 52.7%,47.3% and 67.0%,33.0% in HTG group and control group, respectively. There were significant differences in allele frequencies between HTG group and control group（ P 〈 0.05 ）. The relationship between S19W polymorphism and the disease risk was not found. Conclusion C allele of apolipoprotein A5 - 1131T〉 C polymorphism is associated with higher serum TG.

关 键 词：病理学与病理生理学 内源性高甘油三酯血症与载脂蛋白A5基因多态性相关 聚合酶链反应-限制片长多态性 甘油三酯 单核苷酸多态性 血脂代谢 动脉粥样硬化 

分 类 号：R363[医药卫生—病理学]