载脂蛋白AI基因多态性与冠心病和血脂关系的研究

Study on the Relationship between ApoAI Gene Promoter Polymorphism and Coronary Heart Disease and Serum Lipid Levels

目的 :探讨冠心病患者载脂蛋白(apo)AI基因多态性及其对血脂的影响。方法:应用聚合酶链反应对196例正常人和240例冠心病患者apoAI基因启动子多态性进行分析,扩增含apoAI基因启动子 -75bp 和第一内含子 +83bp的DNA片段,限制性内切酶MspI酶切此片段,琼脂糖凝胶电泳分离基因多态性。结果:2组apoAI基因 -75bp 位点均为G/G基因型占优势,但冠心病组中A/A基因型显著低于对照组(P<0.05) ,2组间 -75bp 位点A、G等位基因频率差别无统计学意义。在男性冠心病患者中 ,A/A基因型携带者血清高密度脂蛋白(HDL)水平显著低于G/G基因型携带者(P<0.05)。2组 +83bp 位点中基因型与等位基因频率差别均无统计学意义。结论:apoAI基因启动子( -75bp)MspI酶切位点的突变与冠心病有一定关联,在冠心病男性患者中,A/A基因型携带者与血清HDL的降低有一定相关性。

Objective:To investigate the relationship between Apo AI gene promoter polymorphism and coronary heart disease(CHD)and serum lipid levels in Chinese population.Methods:The restriction fragment polymorphisms(RFLP)at two MspI sites in the5'end at-75bp and+83bp of apolipoprotein AI gene were detected using PCR in240coronary heart disease patients and196healthy subjects from a population of Chinese Han nationality in Tianjin.Results:G/G genotype was the most frequency in CHD and control groups,but the frequency of A/A genotype in CHD group was significantly lower than that in control group(P<0.05).No difference was found in the frequencies of rare A allele for-75bp and rare T allele for+83bp.In CHD group,male subjects with A/A genotype had a lower serum mean concentration of HDL compared with male subjects with genotype G/G(P<0.05).Conclusion:MspI RFLP at-75bp of apo AI gene is associated with coronary heart disease in Chinese population,and the A/A genotype of apo AI gene is associated with the decrease of serum HDL level.