SLC22A3-LPAL2-LPA基因单核苷酸多态性和冠心病关联研究.docVIP

SLC22A3-LPAL2-LPA基因单核苷酸多态性与冠心病关联研究 丁艳辉1，柳 青1，雷 寒2 （400016 重庆，重庆医科大学附属第一医院：临床研究中心1，心血管内科2） [摘要] 目的 探讨SLC22A3-LPAL2-LPA基因多态性与冠状动脉粥样硬化性心脏病（coronary artery disease，CAD）的相关性。方法 用聚合酶链反应-单链构象多态性（PCR-SSCP）方法和核苷酸测序技术检测165例CAD患者和166例对照的SLC22A3-LPAL2-LPA基因多态性。结果 CAD组和对照组中rs2048327位点均检测出AA、AG基因型，GG基因型未检出，G等位基因频率组间有统计学差异（19.7% vs 11.1%，P=0.002）；rs3127599位点均检测出AG、GG基因型，AA基因型未检出，A等位基因频率组间有统计学差异（7.6% vs 13.2%，P=0.017）；rs7767084位点均检测出CC、CT、TT三种基因型，C等位基因频率组间差异有统计学意义（16.4% vs 30.7%，P=0.000）；r点均检测出CG、GG基因型，CC基因型未检出，C等位基因频率组间有统计学差异（18.5% vs 12.7%，P=0.038）；使用Logistic回归分析排除年龄、吸烟、高血压等因素的影响后，除r点外（P=0.077），其余各位点等位基因频率组间差异依然有统计学意义（P’＜0.03）；单倍型AGC、AGT、GGC、GGT组间分布有统计学差异（P＜0.05）；分别比较各位点不同基因型的血脂水平，并未发现有统计学差异的指标（P均＞0.05）。结论 SLC22A3-LPAL2-LPA基因rs2048327、rs3127599、rs7767084多态性位点可能与CAD发病相关，携带AGT、GGC、GGT单倍型的人群罹患CAD的风险性可能较正常人高，各位点基因多态性可能与血脂水平无相关。 [关键词] 冠状动脉粥样硬化性心脏病；单核苷酸多态性；单链构象多态性；单倍型 [中图法分类号] R543.3+1 [文献标志码] A Association of single nucleotide polymorphism rs2048327- rs3127599- rs7767084- ron chromosome 6q26-q27 with Coronary Artery Disease in a Chinese Han population Ding Yanhui1, Liu Qing1，Lei Han2 (1Department of Clinical Research Center; 2Department of Cardiology, First Affiliated Hospital, Chongqing Medical University,Chongqing,400016,China) [Abstract] Objective To investigate the association of single nucleotide polymorphism (SNP) on chromosome 6q26-q27 with coronary artery disease(CAD). Methods A case-control association study of 165 unrelated CAD patients and 166 normal controls from a Chinese Han population was performed. The PCR-SSCP and nucleotide sequencing methods were used to genotype the SNP rs2048327-rs3127599-rs7767084-rin SLC22A3-LPAL2-LPA gene. Results There are genotype AA and AG in CAD and control groups without the GG in rs2048327, and the frequencies of allele G is different between two groups(19.7%vs11.1%，P=0.002); genotype AG and GG in both groups without the AA in rs3127599, and th