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目的:了解胆固醇酯转运蛋白(CETP)基因TaqIB等6种突变的多态性与海南汉族冠心病(CHD)的关系。方法:应用针对CETP基因TaqIB、I405V、D442G、R451Q、A373P和I14A多态位点设计的等位基因特异性PCR技术,对301例海南汉族正常对照组、334例海南汉族CHD患者中CETP基因多态位点进行了检测,统计各基因型频率,计算各等位基因频率。结果:①正常对照组和CHD组中,TaqIB多态位点均可检测出B1B1、B1B2、B2B23种基因型。正常对照组B1B1、B1B2、B2B23种基因型的频率分布为45.18%、39.87%、14.95%,B1和B2的等位基因频率分布为65.12%、34.88%;CHD组B1B1、B1B2、B2B23种基因型的频率分布为51.50%、31.74%、16.77%,B1和B2的等位基因频率分布为67.37%、32.63%。②I405V突变位点可检测出Ⅱ、Ⅳ、VV3种基因型。正常对照组Ⅱ、Ⅳ、VV3种基因型的频率分布为15.95%、48.50%、35.55%,Ⅰ和Ⅴ的等位基因频率分布为40.20%、59.80%;CHD组Ⅱ、Ⅳ、VV3种基因型的频率分布为15.27%、35.33%、49.40%,Ⅰ和Ⅴ的等位基因频率分布为32.93%、67.07%。③D442G突变位点可检测出DD、DG2种基因型。正常对照组DD、DG2种基因型的频率分布为95.35%、4.65%,D和G的等位基因频率分布为97.67%、2.33%;CHD组DD、DG2种基因型的频率分布为63.47%、36.53%,D和G的等位基因频率分布为81.74%、18.26%。④正常对照组和CHD组中均未检测到R451Q、A373P和I14A3种突变类型。⑤正常对照组与CHD组I405V和D442G2个多态位点的基因型分布和等位基因频率的比较差异有统计学意义,其余多态位点在正常对照组与CHD组之间差异均无统计学意义。结论:I405V和D442G的多态性与海南汉族CHD显著相关。I405V多态位点V等位基因、D442G多态位点G等位基因是海南汉族CHD的易感基因,而I405V多态位点I等位基因对其有保护作用。D442G多态位点DG基因型可使海南汉族人群CHD的发病危险性显著增加。
Objective: To investigate the relationship between six polymorphisms of cholesterol ester transfer protein (CETP) gene TaqIB and coronary heart disease (CHD) in Han nationality in Hainan province. Methods: Using allele-specific PCR designed for polymorphisms of TaqIB, I405V, D442G, R451Q, A373P and I14A of CETP gene, 301 CITP genes were detected in 301 Han normal controls in Hainan and 334 CHD patients in Hainan Han State sites were detected, the frequency of each genotype statistics, calculate the frequency of each allele. Results: ①B1B1, B1B2 and B2B23 genotypes were detected in TaqIB polymorphism sites in both normal control group and CHD group. The frequency distributions of B1B1, B1B2 and B2B23 genotypes were 45.18%, 39.87% and 14.95% in the normal control group, and 65.12% and 34.88% in B1 and B2 respectively. The genotypes of B1B1, B1B2 and B2B23 in CHD group were The frequency distributions of the two alleles were 51.50%, 31.74% and 16.77%. The allele frequencies of B1 and B2 were 67.37% and 32.63%, respectively. ②I405V mutation sites can detect Ⅱ, Ⅳ, VV3 kinds of genotypes. The frequencies of genotypes Ⅱ, Ⅳ and VV in normal controls were 15.95%, 48.50% and 35.55%, respectively. The frequency distribution of alleles in Ⅰ and Ⅴ was 40.20% and 59.80% respectively. The genotypes of Ⅱ, Ⅳ and VV in CHD group were The frequencies of alleles in Ⅰ and Ⅴ were 32.93% and 67.07%, respectively. ③D442G mutation sites can detect DD, DG2 genotypes. The frequency distributions of genotype DD and DG2 in the control group were 95.35% and 4.65%, the allele frequencies of D and G were 97.67% and 2.33% respectively. The frequency distribution of DD and DG genotypes in CHD group was 63.47% 36.53%. The allele frequencies of D and G were 81.74% and 18.26% respectively. ④ No R451Q, A373P and I14A3 mutation types were detected in normal control group and CHD group. The genotype distribution and allele frequencies of I405V and D442G2 polymorphism sites in the normal control group and the CHD group were statistically significant, while the other polymorphic sites in the control group and the CHD group were not statistically different Significance of learning. Conclusion: The polymorphisms of I405V and D442G are significantly associated with CHD in Hainan Han population. I405V polymorphic site V allele, D442G polymorphic site G allele is a predisposing gene of CHD in Hainan Han population, while the I405V polymorphic site I allele has a protective effect. The DG genotype of D442G polymorphism site could significantly increase the risk of CHD in Hainan Han population.