他汀类药物降脂治疗的CYP2D6基因多态性及其与高脂血症的关系

Statins therapy in CYP2D6 gene polymorphism and hyperlipidemia

目的:观察他汀类药物降脂治疗相关的基因多态性位点CYP4502D6*10(CYP2D6*10)在宁夏地区的分布和对辛伐他汀降脂疗效的影响及其与高脂血症的关系。方法:采用等位基因特异扩增技术,测定150例健康回族人和200例高脂血症患者CYP2D6基因型并分析基因型与血脂水平、辛伐他汀调脂疗效的关系。结果:CYP2D6*10基因在宁夏地区的突变频率为47.6%,CYP2D6*10等位基因与高脂血症无显著相关性,服用辛伐他汀8周后CC基因型较CT及TT基因型个体总胆固醇(TC)水平明显降低,差异有统计学意义。结论:CYP2D6*10基因多态性存在种族和地域的差异,CYP2D6*10基因多态性对TC水平有显著影响,该基因多态性可能成为辛伐他汀调脂疗效的预测因子。

Objective To investigate the role of statins therapy in gene polymorphism allele CYP2D6 ＊10（C188T） in Ningxia Hui nationality and analyze the relationship between gene polymorphism allele CYP2D6 ＊10（C188T） and lipid-decreasing effects of simvastatin and hyperlipidemia. Methods Genotypes were determined by using allele-specific amplification（ASA-PCR） in 150 healthy controls and 200 patients with hyperlipidemia.Relationships among genotypes and lipid levels and lipid-decreasing effect of simvastatin were analyzed. Results Distribution frequency of allele of CYP2D6＊10 was 47.6% in Ningxia Hui nationality. There was no significant correlation between CYP2D6＊10 allele and hyperlipidemia. At the eighth week after treatment with simvastatin,the total cholesterol（TC） levels were more obviously decreased in CC genotype than in CT and TT genotypes,with significant differences. Conclusions Distribution of gene polymorphism of CYP2D6 ＊ 10 is ethnically and geographical different. CYP2D6＊10 gene polymorphism exerts significant influence on TC level, which may be a useful predictor of lipid-decreasing effect of simvastatin.