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ABCG1启动子区基因多态性与心肌梗死有关联(PDF)

《心脏杂志》[ISSN:1009-7236/CN:61-1268/R]

期数:
2008年第3期
页码:
309-312
栏目:
临床研究
出版日期:
2008-05-20

文章信息/Info

Title:
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3; 王曙霞3; 傅春燕3; 王虎3; 惠汝太3; 常志文2
1.北京市普仁医院内科,北京 100062； 2.首都医科大学附属北京同仁医院内科，北京100730； 3.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
Author(s):
WANG Yanfeng1;  CHEN Jingzhou3;  WANG Shuxia3;  FU Chunyan3;  WANG Hu3;  HUI Rutai3;  CHANG Zhiwen2
1.Department of internal medicine, Beijing Duren Hospital, Beijing 100062; 2.Department of internal medicine, Beijing Tongren Hospital, Capital Medical University, Beijing 100730, China; 3.SinoGerman Laboratory for Molecular Medicine, Cardiovascular Institute & Fuwai Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100737, China
关键词:
冠状动脉疾病; ATP结合盒子转运体G1; 基因多态性
Keywords:
coronary disease;  ATP binding cassette transporter G1;  single nucleotide polymorphism
分类号:
R541.4
DOI:
-
文献标识码:
A
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。
Abstract:
AIM To investigate the distribution of rs1378577 A/C single nucleotide polymorphism (SNP) in the promotor region of (ATPbinding cassette transporter G1), ABCG1gene 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 （including 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.

参考文献/References

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［7］ Gelissen IC, Harris M, Rye KA, et al. ABCA1 and ABCG1 synergize tomediate cholesterol export to apoAI［J］. Arterioscler Thromb Vasc Biol, 2006, 26(3):534-540.

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［11］Kennedy MA, Barrera GC, Nakamura K, et al. ABCG1 has a critical role in mediating cholesterol efflux to HDL and preventing cellular lipid accumulation［J］. Cell Metab, 2005, 1(2):121-131.

备注/Memo

备注/Memo:
收稿日期：2007-01-10.基金项目：国家重点基础研究发展计划973项目资助(2006CB503805) 通讯作者：常志文,主任医师,教授,主要从事老年心血管病发病机制研究Email:changdoctor@126.com 作者简介：王延风,博士生Email:wangyfh@126.com
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