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

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频率在两组问的差异有显著性（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。

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

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.