HMG-CoA还原酶基因多态性与血浆血脂的关系

Association of HMG-CoA recuctase gene polymorphism with levels of lipids

目的 探讨 3-羟 - 3甲基戊二酰辅酶 A( 3- hydroxy- 3- methylglutaryl coenzyme A,HMG-Co A)还原酶基因多态性在中国汉族人群中的分布及其与冠心病 ( coronary heartdisease,CHD)的关系。方法 用聚合酶链反应 -限制性片段长度多态性方法分析 HMG- Co A还原酶基因第 2内含子区 Scr F1酶切多态性。结果 Scr F1多态位点等位基因 A、a频率在 CHD组和正常对照组分别为 0 .5 19、0 .4 81和 0 .4 4 0、0 .5 6 0。基因频率分布符合 Hardy- Weinberg平衡定律。Scr F1酶切多态性基因型频率、等位基因 A、a频率在组间比较差异无显著性 ( P>0 .0 5 ) ,但是 ,基因型为 AA的冠心病患者 ,其血浆极低密度脂蛋白、胆固醇水平显著高于其他基因型患者 ( P<0 .0 5 )。中国人 Scr F1多态位点 A、a等位基因频率与欧洲白人比较差异有显著性 ( 0 .4 4 vs0 .5 5 ,0 .5 6 vs0 .4 5 ,P<0 .0 5 ) ,可能由于标本的种族来源不同所致。结论 Scr F1酶切多态性与 CHD无相关性 ( P>0 .0 5 ) ,但是 ,患者组 AA基因型与血浆极低密度脂蛋白、胆固醇水平密切相关 ( P<0 .0 5 )

Objective: To study the distribution of ScrF1 restriction polymorphism in intron 2 of the 3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) reductase gene in Chinese Han population and the association of the polymorphism with coronary heart disease (CHD). Methods: HMG-CoA reductase genotyping was performed using polymerase chain reaction-restriction fragment polymorphism. Results: HMG-CoA reductase allelic frequencies of A, a were 0. 519, 0. 481; 0. 440, 0. 560 in CHD group and control group respectively. There was no significant difference in frequencies of allele and genotype in ScrF1 polymorphism between CHD group and control group (P>0. 05). However, the levels of plasma very low density lipoprotein (VLDL) and TG in CHD patients with AA genotype were higher than those in CHD patients with other genotypes (P<0. 05). The frequencies of A, a alleles at ScrF1 polymorphic site were significantly different from those reported in European Caucasians (0. 44 vs 0. 55, 0. 56 vs 0. 45, P< 0. 05). Conclusion: No direct association was found between the ScrF1 polymorphism and CHD, but there is a significant correlation between the AA genotype of the HMG-CoA reductase gene and the levels of plasma VLDL and TG in CHD group.