【摘要】 目的:探讨APOA5基因-12238T>C多态性与高脂血症及冠心病(CAD)的相关性。方法:采用聚合酶联反应-限制性片段长度多态性分析,对195例冠心病患者(CAD组)和181例正常人(正常对照组),检测SNP4(-12238T>C)位点基因多态性,同时测量血脂水平。结果:SNP4的T/C单核苷酸多态位点等位基因T、C频率在CAD组和正常对照组分别为0.431、0.569和0.384、0.616。等位基因频率和基因型频率分布均符合Hardy-Wein-berg平衡定律。等位基因T和C在两组间经Logistic回归分析校正性别、年龄、血清TC、HDL-C、LDL-C、APOA5SNP3位点基因型影响后,两组无统计学意义(P>0.05)。冠心病亚组分析SNP4的TC型较TT和CC型血浆TG、TC水平明显升高(P<0.05),HDL-C、LDL-C水平无显著性差异(P>0.05)。结论:APOA5基因-12238T>C单核苷酸多态性变化与血浆TG、TC升高密切相关,-12238T>C变异通过影响血脂代谢水平增加冠心病的易患性。更多还原

【Abstract】 Objective:To investigate the correlation between apolipoprotein A5 (APOA5) gene-12238T>C polymorphism and the occurence of coronary artery disease (CAD) and lipidemia.Methods:Polymorphism of APOA5 SNP4 (-12238T>C) in 195 patients with CAD and 181 control subjects were determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP),and the plasma lipids were measured.Results:SNP4 allelic frequencies of T,C were 0.431,0.569 and 0.384,0.616 in CAD group and control group respectively.The allele frequency and genotypic frequency distribution were all coincident with the Hardy-Weinberg equilibrium.There was no significant difference in allele and genotype frequencies between CAD group and control group after logistic regression models adjusted for gender,age,TC、 HDL-C、 LDL-C and influence variation of SNP3 (P>0.05).In CAD group,the levels of TG and TC were significantly elevated in SNP4 TC (P<0.05),but there was no significant difference in HDL-C、LDL-C with the variation of SNP4 (P>0.05).Conclusions:The relationship is found between SNP4 polymorphism and CAD.The incidence of CAD is increased with the lipid disorder and the variation of SNP4.更多还原