甾醇调节因子结合蛋白裂解激活蛋白基因异亮氨酸796缬氨酸多态性与冠心病、高脂血症的相关研究

目的 :研究湖北汉族人群甾醇调节因子结合蛋白裂解激活蛋白 (SCAP)基因异亮氨酸 (Ile) 796缬氨酸(Val)多态性 ,探讨该多态性与冠心病、高脂血症的关系。方法 :应用PCR RFLP的分析方法 ,检测 1 5 0名湖北汉族体检健康者、1 32例冠心病和 6 6例高脂血症患者SCAP基因Ile796Val的等位基因频率。结果 :①冠心病、高脂血症、对照组等位基因A的频率分别为 0 .4 5 ,0 .4 8,0 .32 ,等位基因G的频率分别为 0 .5 5 ,0 .5 2 ,0 .6 8。②冠心病、高脂血症与对照组之间的基因型和等位基因的频率差异均有显著性差异 (P <0 .0 5 )。③冠心病、高脂血症组内AA基因型的TC水平明显高于GG基因型的TC水平 (P <0 .0 5 )。结论 :SCAP基因Ile796Val多态性与冠心病、高脂血症密切相关。提示SCAP基因A等位基因与血浆高胆固醇有着密切的关系 ,可能是罹患高脂血症、冠心病的危险因子。

A Ile796 Val Polymorphism of the Human SCAP Gene in Chinese Han Population and Its Correlation with Coronary Heart Disease and Hyperlipidemia

Objective: To study the Ile796 Val polymorphism of human SCAP gene in Chinese Han people, and to analyze its correlation with coronary heart disease and hyperlipidemia. Methods: With PCR RFLP, genotypes of Ile796 Val polymorphism in human SCAP gene were detected. Results: ①The allele A frequencies of Ile796Val polymorphism in human SCAP gene in population of coronary heart disease or hyperlipidemia patients and controls were 0.45,0.48 and 0.32 respectively. The allele G frequencies were 0.55,0.52 and 0.68 respectively. ②There were significant differences in frequencies of genotype and alleles between coronary heart disease, hyperlipidemia and controls. ③Higher plasma levels of total cholesterol were noted in AA genotypes than GG genotypes in the same disease group. Conclusion: A Ile796 Val polymorphism in human SCAP gene may cause disorders in the lipid level of blood .The A allele of Ile796 Val polymorphism of human SCAP gene might be related to atherosclerosis and increase the risk of suffering from hyperlipidemia and coronary heart disease.