凝血栓蛋白-1基因N700S多态性与冠心病的关联研究

Association of thrombospondin-1 gene N700S polymorphism with coronary artery disease

目的:探讨凝血栓蛋白-1(Thrombospondin-1,TSP-1)基因A8831G(N700S)多态性与冠心病的相关性。方法:采用病例-对照方法,连续选取178例经冠脉造影确诊的冠心病(CAD)住院患者(其中急性心肌梗死者55例),和同期158例冠脉正常对照者。以聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法,检测TSP-1的基因多态性。结果:AG基因型在CAD组和正常对照组的分布差异无显著性(1.7%vs0.6%,P=0.375)。未检测到GG纯合子,两组G等位基因频率比较差异无显著性(0.8%vs0.3%,P=0.376);AG基因型在AMI组和正常对照组的分布差异无统计学意义(3.6%vs0.6%,P=0.104),G等位基因频率在AMI组和正常对照组分别为1.8%与0.3%,两者比较P=0.364;G等位基因在本研究所有对象中的表现率仅为0.6%。结论:中国浙江地区汉族人群中存在TSP-1基因N700S多态性,但TSP-1基因700N→S变异发生频率低,与CAD及AMI的发生均无相关性。

Objective:To investigate the association of thrombospondin-1(TSP-1) gene A8831G(N700S) polymorphism with coronary artery disease(CAD).Methods:This study was conducted with a case-control design including 178 patients with CAD(55 AMI) and 158 healthy subjects.The TSP-1 N700S polymorphism was determined by polymerase chain reaction and restriction fragment length polymorphism analysis.Results:No significant difference of the AG genotype in CAD group and control group(1.7% vs 0.6%,P=0.375) was detected.None of the homozygotes was detected for the G allele.The prevalence of the G allele was not significantly different between CAD group and controls(0.8% vs 0.3%,P=0.376).No significant difference of the AG genotype in AMI group and control group(3.6% vs 0.6%,P=0.104).The prevalence of G allele was not significantly different between AMI patients and controls(1.8% vs 0.3%,P=0.364).Conclusion:There are TSP-1 N700S polymorphisms in Chinese Zhejiang Han people,but the TSP-1 N700S variant shows a much lower prevalence compared with Western populations and may be not a potential risk for CAD and AMI.