ABCG1启动子区基因多态性与心肌梗死有关联  

Single nucleotide polymorphism (SNP) in promoter region of ATP binding cassette transporter (ABCG1) gene is related to myocardiuml infarction

作　　者：王延风[1] 陈敬洲[2] 王曙霞[2] 傅春燕[2] 王虎[2] 惠汝太 常志文[3] 

机构地区：[1]北京市普仁医院内科,北京100062 [2]中国协和医科大学阜外心血管病医院中德分子实验室,北京100037 [3]首都医科大学附属北京同仁医院内科,北京100730

出　　处：《心脏杂志》2008年第3期309-312,共4页Chinese Heart Journal

基　　金：国家重点基础研究发展计划973项目资助(2006CB503805)

摘　　要：目的探讨中国人群三磷酸腺苷结合盒子转运体G1(ATP-binding cassette transporter,ABCG1)基因启动子区单核苷酸多态性与冠心病(CAD)的相关性。方法用聚合酶链反应和限制性片段长度多态分析方法检测295例CAD患者(其中心肌梗死患者164例)和286例健康对照者的ABCG1基因启动子区rs1378577位点基因型,并分析该位点A/C基因多态性在健康对照组、冠心病组和心肌梗死组不同基因型频率,其分布特点以及与血脂、CAD的相关性。结果ABCG1基因rs1378577位点CC基因型、C基因型(CC+CA)频率在心肌梗死(MI)组中的分布频率显著高于健康对照组(P<0.05),CC基因型、CC+CA基因型可能与MI发病有关(ORCC=1.77,OR 95%CI:1.06-3.32,P<0.05,ORCC+CA=1.65,OR 95%CI:1.09-2.51,P<0.05);MI组中三酰甘油(TG)、总胆固醇(TC)、高密度脂蛋白胆固醇(HDL-C)、低密度脂蛋白胆固醇(LDL-C)水平在AA、CC、CA基因型中差异无显著性意义。结论ABCG1基因启动子区rs1378577位点A/C多态性可能与中国人群MI发病相关。AIM To investigate the distribution of rs1378577 A/C single nucleotide polymorphism （SNP） in the promotor region of （ATP-binding cassette transporter G1 ）, ABCG1 gene and to evaluate the effect of the SNP in promoter region of ABCG1 gene on the plasma levels of high density lipoprotein cholesterol （HDL-C） and coronary artery disease （CAD） in Chinese population. METHODS rs1378577A/C genotypes in promoter region of ABCG1 gene were assessed in 295 CAD patients （inclu- ding 164 MI patients） and 286 healthy individuals with polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP） and the distribution of the rs1378577A/C genotypes was compared between CAD group and healthy group, and also between different CAD clinical situations. The clinical indexes associated with CAD were compared among the three genotypes. RESULTS The higher proportion of the CC genotype and C allele was verified in CAD MI group than that in healthy group （P 〈 0. 05 ）. No significant difference was found in the total cholesterol, triglyceride, high-density lipoprotein and low denslipoprotein among the three genotypes （ P 〉 0. 05 ） in CAD group. CONCLUSION rs1378577A/C single nucleotide polymorphism （SNP） in the promotor region of ABCG1 is likely involved in the pathogenesis of infarction without detectable changes in plasma lipids. It may suggested that ABCG1 is closely related to CAD.

关 键 词：冠状动脉疾病 ATP结合盒子转运体G1 基因多态性 

分 类 号：R541.4[医药卫生—心血管疾病]