论文部分内容阅读
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。
Objective To investigate the association of -1131T> C polymorphism of apolipoprotein A5 gene and S19W polymorphism with serum lipids in Chinese patients with endogenous hypertriglyceridemia. Methods Polymerase chain reaction - restriction fragment length polymorphism (PCR - RFLP) was used to analyze the polymorphisms of apolipoprotein A5 gene upstream of -1131T> C mononuclear cells in 182 patients with endogenous hypertriglyceridemia and 200 patients with normal blood lipids Nucleotide polymorphism, S19W (c.56C> G) polymorphism in coding region, fasting blood lipids and apolipoproteins. Results The body mass index, total triglyceride and total cholesterol in patients were significantly higher than those in control group, and the level of HDL cholesterol was significantly lower. The frequencies of T and C alleles at -1131T / C SNP were 52.7%, 47.3% and 67.0%, 33.0% in case group and control group, respectively. Allele frequency and genotype frequency distribution accord with Hardy-Weinberg equilibrium law. The frequencies of T and C alleles of T / C polymorphism were significantly different between the two groups (P <0.05). There was no significant correlation between S19W polymorphism and the risk of endogenous hypertriglyceridemia . Conclusion Apolipoprotein A5 gene-1131C allele is associated with elevated serum triglycerides.