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目的研究胆固醇酯转运蛋白(cholesterol ester transfer protein,CETP)基因多态性是否与中国人内源性高甘油三酯血症(hypertriglyceridemia,HTG)有关联,为探讨本病的分子遗传基础提供依据。方法应用聚合酶链反应-限制性片段长度多态性分析法,对成都地区汉族214名正常人及135例HTG患者CETP基因TaqIB和-629C/A多态性位点进行分析。结果中国人CETP基因TaqIB多态位点B2等位基因频率为0.418,-629C/A多态位点A等位基因频率为0.479。HTG组和对照组TaqIB位点和-629C/A之间等位基因的频率差异无统计学意义(0.382vs0.418,P>0.05;0.489vs0.479,P>0.05)。两位点连锁关系分析提示其存在强的连锁不平衡(D′=0.881)。对照组TaqIB位点B2B2基因型携带者其血清高密度脂蛋白水平较B1B1携带者高(P<0.05),而低密度脂蛋白较B1B2者显著降低,按性别划分为亚组后,差异仅在对照组男性存在(P<0.05);对照组-629C/A位点CC基因型携带者其血清低密度脂蛋白水平较AC基因型者显著降低(P<0.01),而载脂蛋白AⅡ则显著升高(P<0.05)。两位点联合基因型的分析显示,对照组B2B2CC基因型携带者血清高密度脂蛋白较B1B1CC型者显著升高(P<0.05),B2B2CC型者与B1B1CC型者比较,甘油三酯水平显著降低(P<0.05)。结论中国成都地区汉族人CETP基因TaqIB多态性与血清高密度脂蛋白、低密度脂蛋白含量有一定关联,-629C/A多态性与血清低密度脂蛋白和载脂蛋白AⅡ有一定关联,但未见这些位点与内源性高甘油三酯血症有关。
Objective To investigate whether the polymorphism of cholesterol ester transfer protein (CETP) is associated with hypertriglyceridemia (HTG) in Chinese population and provide basis for exploring the molecular genetic basis of this disease. Methods Polymorphisms of CETP gene TaqIB and -629C / A in 214 normal subjects and 135 HTG patients in Han nationality in Chengdu were analyzed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Results The frequency of allele B2 in TaqIB polymorphism site of Chinese CETP gene was 0.418, and the allele frequency of allele A in -629C / A polymorphism site was 0.479. There was no significant difference in the frequencies of alleles between TaqIB and -629C / A in HTG group and control group (0.382vs0.418, P> 0.05; 0.489vs0.479, P> 0.05). Analysis of the linkage between the two loci suggested that there was a strong linkage disequilibrium (D ’= 0.881). Compared with B1B1 carriers, the level of serum high density lipoprotein in the carriers with B2B2 genotype of TaqIB site in control group was significantly higher than that in B1B1 carriers (P <0.05), but LDL was significantly lower than that in B1B2 group (P <0.05). The CC genotype at -629C / A in the control group had significantly lower serum low density lipoprotein (P <0.01), while the level of apolipoprotein AⅡ was significantly higher in the control group than in the AC genotype Increased (P <0.05). Analysis of the combined genotypes at the two sites showed that the serum HDL levels of B2B2CC genotype carriers in control group were significantly higher than those of B1B1CC genotype (P <0.05), and the levels of triglyceride were significantly lower in B2B2CC type and B1B1CC genotype (P <0.05). Conclusion The polymorphism of CETP gene TaqIB in Han nationality in Chengdu, China is related to serum high density lipoprotein and low density lipoprotein. The -629C / A polymorphism is associated with serum low density lipoprotein and apolipoprotein A Ⅱ. However, none of these sites was associated with endogenous hypertriglyceridemia.