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
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国家863高科技研究发展计划资助项目(2002BA711A08)


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

    Abstract:

    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 fragment 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.

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汤轶波,顾丽萍,孙屏,郭冬平,李晓宇,陈琪,范乐明.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[J].中国动脉硬化杂志,2005,13(6):785~788.

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  • 收稿日期:2005-03-07
  • 最后修改日期:2005-10-26
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