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[目的]了解CETP基因TaqIB、I405V、D442G、R451Q、A373P和I14A6种突变的多态性与海南汉族CHD人群血脂的关系。[方法]应用等位基因特异性PCR技术,对301例海南汉族正常对照组、334例海南汉族CHD患者组中CETP基因多态位点进行检测,分析各基因型与血脂的关系。[结果]在2组人群中,TaqIB、I405V和D442G多态位点可分别检测出B1B1、B1B2、B2B23种基因型,II、IV、VV3种基因型和DD、DG2种基因型,未检测到R451Q、A373P和I14A3种突变类型。I405V和D442G2个多态位点的基因型分布和等位基因频率在2组间存在统计学差异,且与CHD组中总胆固醇浓度升高有关;D442G多态位点的基因型分布和等位基因频率还与CHD组中高密度脂蛋白浓度升高有关。其余多态位点在2组间及与CHD血脂水平之间无差异。[结论]I405V和D442G的多态性与海南汉族CHD显著相关,且与CHD总胆固醇升高相关;D442G的多态性还与海南汉族CHD的HDL升高相关。
[Objective] To investigate the relationship between the polymorphisms of CETP gene TaqIB, I405V, D442G, R451Q, A373P and I14A and the blood lipids in Han Chinese CHD population. [Method] The allele-specific PCR technique was used to detect the polymorphisms of CETP gene in 301 Han normal controls and 334 CHN patients of Hainan Han ethnic group. The relationship between the genotypes and blood lipids was analyzed. [Results] The genotypes B1B1, B1B2, B2B23, genotypes II, IV, VV and DD genotype DG2 were detected in TaqIB, I405V and D442G polymorphic loci in two groups R451Q, A373P and I14A3 kinds of mutation types. The genotype distribution and allele frequencies of I405V and D442G polymorphic loci were statistically different between the two groups and were related to the increase of total cholesterol concentration in CHD group. The genotype distribution and alleles of D442G polymorphism loci Gene frequency was also associated with elevated concentrations of HDL in the CHD group. The remaining polymorphic sites in the two groups and no difference between CHD blood lipid levels. [Conclusion] The polymorphisms of I405V and D442G are significantly associated with CHD in Hainan Han population, and are correlated with elevated total cholesterol in CHD. The polymorphism of D442G is also associated with elevated HDL of CHD in Hainan Han population.