海南汉族冠状动脉粥样硬化性心脏病人群CETP基因多态性与血脂的关系  

STUDY ON THE RELATIONSHIP BETWEEN CETP POLYMORPHISM AND PLASMA LIPID IN PATIENT WITH CHD OF HAN ETHNIC IN HAINAN

作　　者：张勇[1] 习隽丽[1] 云美玲[2] 张云霞[3] 周代锋[3] 蔡望伟[3] 王镇[1] 

机构地区：[1]海南省老年病医院,海口571101 [2]海南医学院附属医院心内科 [3]海南医学院生物化学教研室

出　　处：《现代预防医学》2011年第4期691-693,共3页Modern Preventive Medicine

基　　金：海南省自然科学基金立项课题(琼科函[2004]37号-1);海南医学院苗圃基金资助课题(海医学[2005]47号-1)

摘　　要：[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 understand the correlations between the polymorphism of CETP gene at six mutation loci,TaqIB,I405V,D442G,R451Q,A373 and I14A,and coronary heart disease（CHD） of Han ethnic in Hainan province.[Methods] The six polymorphic loci of CETP gene was probed with an allele specific-PCR（AS-PCR） in 301 healthy controls and 334 CHD patients of Han ethnic in Hainan province.The diverse genotypes and their association with blood fat levels were studied.[Results] In both the healthy controls and the CHD patients,the TaqIB locus was detected in B1B1,B1B2,and B2B2 three genotypes,the I405V locus was detected in II,IV and VV 3 three genotypes,the D442G locus was detected in DD and DG2 three genotypes.But R451Q,A373P or I14A3 mutations was not detected either in the healthy controls or in the CHD patients.The distributions of genotypes and appearing frequencies of alleles at I405V and D442G loci in the CHD patients were significantly different from those in the healthy controls;An increase of total cholesterol concentration was significantly correlated with the difference in the CHD patients.The distributions of genotypes and appearing frequencies of alleles at D442G loci were associated with high HDL level of CHD.The presence of other genotypes and the frequencies of all the alleles were not associated with the blood fat level.[Conclusion] The polymorphism of I405V and D442G was significantly correlated with CHD in Han ethnic in Hainan province and an increase of total cholesterol concentration.The polymorphism of D442G was significantly correlated with CHD in Han ethnic in Hainan province and an increase of HDL level.

关 键 词：胆固醇酯转运蛋白基因 DNA多态性 冠状动脉粥样硬化性心脏病 汉族 

分 类 号：R541.4[医药卫生—心血管疾病]