中国汉族胆固醇调节元件结合蛋白-2基因多态性与高脂血症的关系

目的　了解胆固醇调节元件结合蛋白 2 (SREBP 2 )基因 1784G >C位点多态性在中国汉族人群中的分布情况及其与高脂血症的关系。方法　选取北京市西城区 32 2名高脂血症患者作为病例组 ,同时选择16 4名血脂正常者作为对照组 ,对所有对象均进行血脂谱项目测定及SREBP 2基因 1784G >C位点多态性检测 (PCR RFLP方法 )。结果　高脂血症组和正常对照组 1784位点C等位基因频率分别为 19 6 %和 2 0 1% ,差异无显著性 ,GG、GC和CC三种基因型构成两组间差异亦无显著性 (P >0 0 5 )。各组GG基因型和GC CC基因型间血脂水平差异无显著性 (P >0 0 5 )。按血清TC和TG水平将高脂血症分为高TC血症、高TG血症和混合型高脂血症三个亚组后比较不同基因型血脂水平时发现 ,高TC血症组 1784C等位基因携带者血清TC和LDL C水平明显高于无 1784C等位基因者 ,差异有显著性 (P <0 0 5 )。结论　提示SREBP 2基因 1784G>C位点多态性可能主要影响高胆固醇血症患者血清TC和LDL C水平 ,与血清TG无关 ;C等位基因可能是高胆固醇血症和动脉粥样硬化的危险因素。

Relations between polymorphism of sterol regulatory element binding protein-2 gene and hyperlipidemia in the Han Ethics of China

Objective To determine allele frequencies of 1784G>C polymorphism in Sterol Regulatory Element Binding Protein-2 (SREBP-2) gene and investigate the relationship between this polymorphism and serum lipid levels in hyperlipidemic and normolipidemic individuals residing in Beijing City, China.Methods A total of 322 unrelated hyperlipidemic individuals and 164 unrelated normolipidemic individuals were selected from Xicheng District of Beijing. For all subjects the serum lipids profiles were measured and the 1784G>C polymorphism was analyzed (PCR- RFLP). Results The frequencies of C allele in hyperlipidemic and control groups were 0.196 and 0.201, respectively. There was no significant difference in genotype frequencies or allele frequencies of this polymorphism between hyperlipidemic and control groups. When the hyperlipidemic subjects were divided into three subgroups according to lipid levels, it was shown that the serum TC and LDL-C levels of the individuals carrying C allele were significantly higher than the non-carriers in the hypercholesterolemic subgroup. There were no statistically significant differences for any of these parameters across genotypes in hypertriglyceridemic, combined hyperlipidemic and normolipidemic groups.Conclusion The study indicated that 1784GC/CC genotypes of SREBP-2 were significantly related with the elevated concentrations of serum TC and LDL-C in hypercholesterolemic subjects, and further work is necessary to confirm the role of 1784G>C polymorphism of SREBP-2 gene in the development of hyperlipidemia.