冠心病患者脂蛋白脂酶基因HindⅢ多态性及与血脂的关系

Effect of Intron 8 HindⅢ Polymorphism in the Lipoprotein Lipase Gene on Serum Lipids and Its Relation to Coronary Heart Disese

目的 :探讨脂蛋白脂酶 (LPL)基因第 8内含子HindⅢ限制性内切酶位点多态性对血脂的影响及与冠心病 (CHD)危险性的相关性 ,并初步分析该位点多态性频率在中国汉族人群及非洲黑种人之间的差异。方法 :采用聚合酶链反应 (PCR)结合限制性片段多态性 (RFLP)分析方法 ,分析LPL基因第 8内含子HindⅢ限制性位点酶切多态性 ,并测定血清总胆固醇 (TC)、甘油三酯 (TG)、高密度脂蛋白 (HDL C)、低密度脂蛋白 (LDL C)、ApoAⅠ及ApoB浓度。结果 :排除年龄因素的影响后分别同对照组比较 ,各种基因型在CHD组及黑种人组中的分布均存在显著性差异 (χ2 =4 .2 3,P <0 .0 5 ;χ2 =9.33,P <0 .0 1)。CHD组和对照组及黑种人组H 基因型频率分别为 0 .194 ,0 .2 81,0 .4 78。CHD组H 等位基因频率显著性低于对照组 (P <0 .0 5 ) ;黑种人H 等位基因频率显著性低于对照组 (P <0 .0 1)。CHD组及对照组H+ /H-合并H-/H-基因型者TG、LDL C及TC水平明显低于H+ /H+ 基因型者 (P <0 .0 1,P<0 .0 1,P <0 .0 5 )、HDL C水平显著性升高 (P <0 .0 1) ,而ApoAⅠ、ApoB水平无显著性差异 (P >0 .0 5 )。结论 :LPL基因HindⅢ限制性位点酶切多态性引起血清脂质及载脂蛋白显著性改变 ,对抑制CHD的发生和发展有一定的保护性作用 。

Objective: To explore the influences of HindⅢ polymorphism in the lipoprotein lipase(LPL)gene on serum lipids and apolipoproteins concentration,and to study its relation to coronary heart disease(CHD). Methods: Polymerase chain reaction amplification and restriction fragment length polymorphism (PCR-RFLP) method was used to determine HindⅢ polymorphism. Automated Biochemical Analyzer was used to messure the serum total cholesterol(TC),triglyceride(TG),high density lipoprotein-cholesterol(HDL-C),low density lipoprotein cholesterol(LDL-C),apolipoprotein AⅠ(ApoAⅠ) and apolipoprotein B (ApoB). Results: The frequence of each genotype in CHD patients and in Africa Black group was significantly different from that in control group consisting of normal Chineses(χ 2=4.23,P<0.05 and χ 2=9.33,P<0.01 respectively). The frequence of H - allele in each group was respectively 0.194,0.281 and 0.478. Compared with that in the control group,the frequence of H - allele was significantly lower in CHD patients(P<0.05). Excluding the influence of age,the frequence of H - allele was significantly higher in Africa Black group than in control group(P<0.01). Compared with that in control group,the serum TG、LDL-C and TC concentration was significantly lower, serum HDL-C concentration was significantly higher in H +/H -and H -/H - genotypes in CHD patients.But there were no significant differences of ApoAⅠ and ApoB concentration in both groups(P>0.05). Conclusion: The intron 8 HindⅢ polymorphism in the lipoprotein lipase gene has an effect on serum lipids and apolipoproteins. H -allele has a positive effect on CHD in some degree. There were racial differences between Chinese and Africa Black in Hind Ⅲ polymorphism.