低密度脂蛋白受体基因多态性与高脂血症的关系

The relationship of low density lipoprotein receptor gene polymorphism and hyperlipidemia

目的 探讨上海市城市社区高血压人群中低密度脂蛋白受体 (lowdensitylipoproteinreceptor,LDL R)基因多态性与高脂血症的关系。方法 运用聚合酶链反应 限制性内切酶片段长度多态性 (PCR RFLP)技术检测 10 7例高脂血症、10 4例临界高脂血症和 10 8例正常血脂的LDL R基因多态性。结果 发现LDL R基因型有 3种 ,即 (+ / + )型、(+ / - )型、(- / - )型。男性 ,3组均有(+ / + )基因型 ,高脂血症组 2例 ,临界高脂血症组和正常血脂组均为 1例。高脂血症组、临界高脂血症组、正常血脂组 (+ / - )基因型频率分别为 41.18%、46 .15 %、19.0 5 % ,3组 (+ )等位基因频率分别为 2 4.5 1%、2 5 .0 0 %、11.11%。高脂血症组和临界高脂血症组 (+ / - )基因型频率及 (+ )等位基因频率均高于正常血脂组 (P <0 .0 5 ) ;女性 ,3组均无 (+ / + )基因型 ,且 3组基因型及等位基因频率差异无显著性 (P <0 .0 5 )。单因素和多因素非条件logistic回归分析显示 :男性LDL RAvaⅡ (+ / + ,+ /- )基因型与高脂血症 (OR =3.0 8)、临界高脂血症 (OR =3 .82 )关联显著。结论 上海市城市社区高血压人群中男性高脂血症LDL R基因 (+ / - )基因型显著高于正常血脂组 ,(+ )等位基因频率也明显高于正常血脂组 ,说明LDL

Objective To study the relationship of low density lipoprotein receptor gene polymorphism and hyperlipidemia in the population with essential hypertension. Methods People with different lipid levels including 107 hyperlipidemia,104 at margin level and 108 normal were recruited in the study. Their polymorphisms of LDL R gene were analyzed using PCR RFLP. Results There were three kinds of genotype: (+/+)、(+/-)、(-/-). In male, the frequencies of the(+/-)in three study groups were shown as follows: 41.18 % in hyperlipidemia, 46.15 % in margin level, 19.05 % in normal lipid. The frequency of (+) allele was significantly higher in hyperlipidemia than that in normal lipid ( 24.51 %, 25.00 % and 11.11 %, respectively). In women, the differences were not statistically significant. The nonconditional univariate and multivariate logistic regression analysis demonstrated that (+) allele of AvaⅡ polymorphism of LDL R was a genetic marker of male's hypercholesterolemia. Conclusions The frequency of (+/-) hyperlipidemia in males was higher than that in normal lipid group and the (+) allele in male hyperlipidemia was significantly more frequant seen than that in normal lipid group. These results suggested that polymorphisms of LDL Rgene might play an independent role of risk factor for hyperlipidemia.