中国汉族人血小板反应素蛋白1基因单核苷酸多态性与冠心病的关联研究

目的 探讨血小板反应素蛋白1(TSP-1)基因第13外显子单核苷酸多态性(SNPs),致TSP-1蛋白第700位氨基酸丝氨酸转换为天冬氨酸(700N→S)与中国汉族人冠心病有无相关性.方法 应用聚合酶链反应-限制性片断长度多态性技术(PCR-RFLP),筛查南京医科大学第一附属医院和上海中医药大学附属岳阳医院2003年11月至2007年5月437例汉族冠心病患者和对照组423例TSP-1基因第13外显子钙,结合活性片段8831A→G,对筛查到含有突变的片段进行序列测定,并与正常序列进行对照分析.结果 2组均以AA型为主,测序仅检测到AG杂合型19例,未检测到GG纯合子.在2组中AG杂合型所占比例比较差异无统计学意义(2.5%比1.9%,P＞0.05).TSP-1基因8831A→G在中国汉族人中发生频率低,与汉族人冠心病发生无相关性(AG对AA:OR=1.699;95%CI 0.309～9.348,P＞0.05).结论 TSP-1基因8831A→G不是中国汉族人冠心痛发生的独立危险因素.

Association between single nucleotide polymorphisms of thrombospondin-1 gene and coronary artery disease in the Chinese Han population

Objective To study the relationship between single nucleotide polymorphisms(SNPs)of thrombospondin-1 gene(TSP-1)and coronary artery disease(CAD).Methods Fragment 8831A→G of Exon thirteen in TSP-1 gene from 437 cases of CAD and 423 subjects without coronary heart disease from November 2003 to May 2007 in The First Affiliated Hospital of Nanjing Medical University and Affiliated Yueyang Hospital of Shanghai Traditional Chinese Medicine University were analysed by polymerase chain reaction and restriction fragment length polymorphism(PCR-RFLP),and sequence analysis for confirmation.Results The prevalence of the 8831G in the 860 subjects was rare.No association of the N700S polymorphism with an altered risk of ACS was found in our study (GA VS AA:OR=1.699;95%CI 0.309-9.348,P＞0.05).Conclusion The TSP-1 8831A→G polymorphism is rare and unrelated to CAD in the Chinese Han population.