CETP基因突变位点的组合分析与冠心病的关系  

CORONARY HEART DISEASE AND COMBINED ANALYSIS OF THREE POLYMORPHIC LOCI OF CETP GENE

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

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

出　　处：《现代预防医学》2011年第5期948-950,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、D442G3个突变位点多态性组合与海南汉族CHD的关系。[方法]应用等位基因特异性PCR技术,对334例海南汉族CHD患者及301例海南汉族正常对照组CETP基因多态位点进行检测,利用统计学方法分析3个位点多态性组合与CHD的关系。[结果]TaqIB、I405V、D442G多态位点分别可检测出B1B1、B1B2、B2B23种基因型,II、IV、VV3种基因型和DD、DG2种基因型。多态位点组合分析发现B1B1-IV-DD(χ2=23.027,P﹤0.01)和B1B2-II-DD(χ2=20.43,P﹤0.01)在对照组出现的频率远高于病例组,而B1B1-II-DG(χ2=15.835,P﹤0.01)、B1B1-VV-DG(χ2=20.538,P﹤0.01)、B1B1-IV-DG3(P=0.02)和B1B2-VV-DG(χ2=17.651,P﹤0.01)4组基因型串联则在病例组中出现的频率远大于对照组。[结论]B1B1-IV-DD和B1B2-II-DD两组基因型串联可能对心血管具有保护作用,而B1B1-II-DG、B1B1-VV-DG、B1B2-VV-DG和B1B1-IV-DG4组基因型串联可能会增加CHD几率。[Objective]To understand the correlations between coronary heart disease（CHD）and three-mutation-loci polymorphism of CETP gene in Han ethnic people of Hainan province.[Methods]The three polymorphic loci of CETP gene were probed with an allele specific-PCR（AS-PCR）in 301 healthy controls and 334 CHD patients of Han ethnic in Hainan province.The correlations between CHD and the combination analysis of the three mutation loci at CETP gene were analyzed by statistical method.[Results]The TaqIB locus was detected in B1B1,B1B2 and B2B2 three genotypes in both the healthy controls and the CHD patients.The I405v locus was detected in II,IV,and VV three genotypes in both the healthy controls and the CHD patients.The D442G locus was detected in DD and DG two genotypes in both the healthy controls and the CHD patients.Combination analysis of the three mutation loci at CETP gene indicates that frequency of B1B1-IV-DD（χ2 = 23.027,P﹤0.01）and B1B2-II-DD（χ2 = 20.43,P﹤0.01）in control group was higher than that in the case group,while the fact was opposite in the B1B1-II-DG（χ2 = 15.835,P﹤0.01）,B1B1-VV-DG（χ2 = 20.538,P﹤0.01）,B1B1-IV-DG 3（P = 0.02）and B1B2-VV-DG（χ2 = 17.651,P﹤0.01）.[Conclusion]CETP genes of B1B1-IV-DD polymorphism and B1B2-II-DD polymorphism may protect the cardiovascular,while B1B1-II-DG,B1B1-VV-DG,B1B1-IV-DG and B1B2-VV-DG may promote the frequency of CHD.

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

分 类 号：R394[医药卫生—医学遗传学]