中国上海人群中胆固醇7α-羟化酶基因多态性与高低密度脂蛋白胆固醇血症的关系研究

The Relationship of Polymorphism of the Cholesterol 7-alpha-hydroxylase Gene and the Concentrations of Low-density Lipoprotein Cholesterol in the population of the Chinese in Shanghai

目的 :探讨上海地区中国人胆固醇 7α -羟化酶 (CYP7)基因多态性与血低密度脂蛋白胆固醇间的关系。方法 :研究包括上海地区中体重指数大于 2 5的肥胖者 6 8例 ,健康体检的体重正常人 92例。以限制性片段长度多态性 (RFLP)的方法进行分析CYP7基因翻译起始位点上游 2 78bp处C→A替换多态性 ,同时检测血清胆固醇 ,低密度脂蛋白胆固醇和甘油三脂浓度。结果 :肥胖和非肥胖者该多态性基因型分布无差异。CC纯合子较AC杂合子有较高的血清LDL -C水平和较高的高LDL -C血症的发生率。结论 :CYP7的基因多态性是决定血清LDL

Objective: To investigate the relationship between the polymorphism of the cholesterol 7-alpha-hydroxylase(CYP7) gene and the concentrations of low-density lipoprotein cholesterol in the population of the Chinese in Shanghai. Methods: 68 individuals with BMI>25 and 92 with normal BMI were involved in this study. The variations of C→A substitution 278 bp upstream of the translation initiation in the DNA were identified by the method of restriction fragment length polymorphism (RFLP). Serum cholesterol, low-density lipoprotein cholesterol (LDL-C), triglyceride concentrations were determined. Results: There were no significant differences of the genotype between obese and non-obese subjects. The concentrations of LDL-C and the frequency with promoted serum LDL-C concentration in CC individuals were significantly higher than in AC individuals. Conclusion: The polymorphism in CYP7 contributes to heritable variation in serum LDL-C concentrations.