ABCG1基因启动子区多态性与中国南方汉族人群冠心病多支血管病变的相关性

A promoter polymorphism in the ABCG1 gene is associated with coronary artery disease severity in Southern Han Chinese

目的探讨中国南方汉族人群三磷酸腺苷结合盒转运体G1（ATPbindingcassettetransporterG1，ABCG1l）基因启动子区单核苷酸多态性与冠心病（coronaryarterydisease，CAD）的相关性。方法采用病例对照研究，采用单碱基引物延伸的多重PCR法检测482例冠状动脉造影证实的CAD患者和513例对照者的ABCGI基因启动子区域rs1378577位点A／C多态性，分析该位点多态性与中国南方汉族人群CAD易感性和病变血管数的关系。结果rs1378577A／C等位基因和基因型频率在CAD组和对照组之间的分布比较差异无统计学意义（P〉0．05）；校正了性别、年龄、吸烟状况、高血压、高脂血症、糖尿病等危险因素后，rs1378577A／C基因多态性与CAD无相关性（P〉0．05）；rs1378577A／C多态性在CAD单支病变和多支病变之间的分布比较差异无统计学意义（P〉0．05）；逻辑回归分析显示，以AAVSAC＋CC分析时rs1378577A／C多态性可能与冠状动脉病变血管数相关（OR0．724，95％C10．526～0．995，P=0．047）。结论ABCG1基因启动子区rs1378577位点A／C多态性可能与中国南方汉族人群冠心病多支血管病变相关。

Objective To investigate the association of rs1378577A/C single nucleotide polymorphism in promoter region of ABCG1 and angiographically proven coronary artery disease （CAD） in Southern Han Chinese. Methods Totally 482 CAD patients and 513 controls were reeruited in this study. A case - control study was conducted, rs1378577A/C genotypes were assessed with SNP stream technique. Results No significant difference was found in the distribution of alleles and genotype frequencies in cases and controls （ P 〉 0.05 ）. After adjustment for the conventional risk factors for CAD, no significant assoeiationwas observed between rs1378577A/C single nucleotide polymorphism and CAD （P 〉 0. 05 ）. The present study showed a significant association betweenvariant ABCG1 rs1378577A/C and the number of significantly diseased vessels on CAD in arecessive genetic model after adjustment for the conventional risk factors for CAD（ OR 0. 724, 95% CI 0. 526 -0.995, P =0.047）. Conclusion rs1378577A/C single nucleotide polymorphismin promoter region of ABCGI is associated to coronary artery disease severity in Southern Han Chinese.