CETP基因TaqⅠB位点多态性与高胆固醇血症的关系

Correlation between TaqⅠB site polymorphism in CETP gene and hypercholesterolemia

目的探讨胆固醇酯转运蛋白CETP基因TaqⅠB位点多态性与汉族人群高胆固醇血症的关系。方法应用聚合酶链技术-限制性片段长度多态性(PCR-RFLP)技术检测汉族人群464例高胆固醇血症(高胆固醇血症组)、852例边缘高胆固醇血症(边缘高胆固醇血症组)及1 309例正常血脂(正常对照组)人群CETP基因内含子1的TaqⅠB位点多态性。结果按TaqⅠ酶切位点存在与否分为B1B1、B1B2、B2B2 3种基因型和B1、B2 2种等位基因。高胆固醇血症组较边缘高胆固醇血症组、正常对照组LDL-C、CETP升高,HDL-C降低(P<0.05)。CETP基因TaqⅠB多态性基因型及等位基因频率在3组人群中的分布差异有统计学意义,高胆固醇血症组和边缘高胆固醇血症组的B1B1基因型及B1等位基因频率显著高于正常对照组(P<0.05)。CETP基因TaqⅠB多态性B1B1基因型者血清TC、LDL-C和CETP水平明显高于B1B2基因型和B2B2基因型(P<0.05)。多因素logistic回归分析显示CETP基因TaqⅠB B1B1基因型是高胆固醇血症的独立危险因素。结论胆固醇酯转运蛋白基因TaqIB位点存在基因多态性,B1B1基因型及B1等位基因与高胆固醇血症有着密切的关系,可能是汉族人群高胆固醇血症的原因之一。

Objective To study the correlation between Taq I restriction site polymorphism in the first intron of cbolesteryl ester transfer protein （CETP） gene and hypercholesterolemia. Methods PCR - RFLP method was applied to determine Taq I restriction site polymorphism in the first intron of CETP gene in 464 hypercholesterolemia, 852 borderline hypercholesterolemia and 1 309 normal control subjects. Results According to Taq I restrictive site in the first intron, CETP gene was divided into three genotypes： B1B1, B1B2 and B2B2, with two alleles： B1 and B2. The serum levels of LDL- C and CETP in hypereholesterolemia group were significant higher than those of borderline hypercholesterolemia group and control group （ P 〈 0. 05 ）. The genotype frequency and allele frequency of Taq I B polymorphism showed signif- icant difference among these three groups; the genotype frequency of B1 B1 and the allele frequency of B1 were significant- ly higher in hypercholesterolemia group and the borderline group than those in the normal control group （P 〈 0. 05 ）. The levels of TC, LDL - C and CETP in B1B1 genotype were significant higher than those in B1B2 genotype or in B2B2 geno- type （P 〈 0.05 ）. According to logistic regressive analysis, B1 B1 genotype and B1 allele were independent risk factors for hypercholesterolemia. Conclusion There is gene polymorphism in Taq I restriction site at the first intron of CETP. B1B1 genotype and B1 allele is closely correlated with hypercholesterolemia, suggesting important factors of hypercholes- terolemia in Chinese Han population.