CETP基因I405V突变与脑梗死的关系

摘要

目的：通过检测胆固醇酯转运蛋白（CETP）基因I405V多态性，探讨CETP基因I405V多态性与河北汉族人群脑梗死患者的关系。方法确诊的脑梗死患者350例（男206例，女144例）为试验组，选取非脑梗死患者及健康体检者331例作为对照组（男190例，女141例），应用聚合酶链反应（ PCR）分析技术结合DNA直接测序技术，对2组研究对象的CETP基因I405V（A/G）位点进行多态性分型，按等位基因A和G的出现情况分为ⅠⅠ、ⅠⅤ、ⅤⅤ三种基因型。采用非条件逻辑回归分析统计CETP基因多态位点与脑梗死疾病易感的相关性。同时检测研究对象的血脂水平，并记录2组的吸烟、饮酒、家族史等情况。结果试验组血脂指标中TC、TG、LDL-C与对照组比较明显升高，而HDL-C则明显低于对照组；脑梗死组患者的吸烟、阳性家族史的比例均高于对照组（ P ＜0�．05）。ⅠⅠ、ⅠⅤ、ⅤⅤ基因型在脑梗死组中的分布频率分别为24．3％，37．4％，38．3％，在对照组中分别为50．8％，36．5％，12．7％，2组间基因型频率分布有明显差异（χ2＝8．324， P ＝0．007）。多因素回归分析研究发现，CETP基因I405V（ A/G）多态位点G变异等位基因与脑梗死的遗传易感有相关性（OR＝8．27，95％CI＝5．43～32．57， P ＜0．01）。结论 CETP基因I405V （ A/G）位点基因突变可能是导致河北地区汉族人群脑梗死的原因之一。%Objective To explore the correlation between I 405V mutation of cholesteryl ester transfer protein (CETP) gene polymorphism and cerebral infarction in Han people of Hebei province by detecting CETP gene I 405V polymorphism.Methods The 350 patients with cerebral infarction (206 males and 144females) were enrolled as trial group, and 331 people without cerebral infarction or healthy subjects (190 males and 141 females) were enrolled as control group . The PCR combined with DNA direct sequencing technique was used to type the gene polymorphism at CETP I 405V(A/G)gene site,to divide into three kinds of gene types (Ⅱ、Ⅳ、ⅤⅤ) according to the occurrence condition of allele A and G .Stepwise multiple linear regression analysis was applied to explore relationship between I 405V mutation of CETP gene polymorphic site and genetic susceptibility of cerebral infarction .Meanwhile the subjects ’ blood fat levels were detected , and their smoking , drinking and family history were recorded .Results The serum levels of TC , TG, LDL-c in trial group were significantly increased,as compared with those of control group ( P <0.05),however,the serum levels of HDL-c in trial group were obviously lower than those of control group ( P <0.05);the positive rates of smoking,family history in trial group were significantly higher than those of control group ( P <0.05).The distribution frequency of II,IV,VV genotypes in trial group was 24.3%,37.4%,38.3%,respectively,however,which in control group was 50.8%,36.5%,12.7%,respectively,there was a significant difference between two groups (χ2 =8.324, P <0.01).CETP gene I405V(A/G) polymorphic site G variation allele was closely correlated to genetic susceptibility of cerebral infarction [OR=8.27,95%CI=(5.43,32.57), P<0.01)].Conclusion The I405V mutation of CETP gene may be one of the reasons of causing cerebral infarction in Han people of Hebei province .