内皮素1 Lys198AsnT等位基因与冠心病关系的研究

目的 探讨内皮素1（ET-1）Lys198Asn （G198T）基因多态性与汉族人群冠心病的关系.方法 对160例冠心病（CHD）患者和健康对照者80名进行研究.应用ELISA试剂盒检测血清ET-1水平;用聚合酶链反应-引物特异性片断长度多态性（PCR-SSP）方法检测Lys198Asn 基因型,采用非条件多元逐步Logistic回归模型控制混杂因素.结果 冠心病组G198T GT＋TT基因型频率（19.375%）显著高于对照组（5.000%）,差异有统计学意义（χ2＝8.847,P＜0.05）,基因型频率的相对风险分析,GT＋TT基因型患冠心病的风险是GG基因型的4.566倍（OR＝4.566,95%CI：1.68,12.40）;两组等位基因频率差异也有统计学意义χ2＝9.659,P＜0.05,OR＝4.6364,95%CI：1.953～8.052）.冠心病组血清ET-1水平（27.8±7.3）ng/L]高于对照组（12.5±8.1）ng/L],差异有统计学意义（P＜0.01）;冠心病组GT＋TT基因型携带者的血清ET-1水平（33.3±7.9）ng/L]显著高于同组GG基因型者（24.2±7.5）ng/L,P＜0.01].经Logistic回归分析冠心病的危险因素显示,G198T基因多态性（T等位基因）为冠心病的独立危险因素.结论 ET-1基因Lys198Asn多态性与冠心病的发病具有相关关系,T等位基因可能是冠心病的易感性标志.

T allele gene of ET-1Lys198Asn in patients with coronary heart disease

Objective To investigate the association between the Polymorphism of ET-I Lys198Asn gene and coronary heart disease （CHD） in Hans of Chinese. Methods 160 patients with CHD and 80 volunteers with- out documented evidence of CHD were subjected to a case-control study.ET-1 G198T polymorphism in the CHD group and control group respectively was detected by using the method of polymerase chain reaction-restriction fragment length polymorphisms. Results For the endothelin-1 G198T gene polymorphism, the frequencies of GT＋TT genotype were 19.375% in the CHD group,significantly higher than those in the control group （5.0%,P〈0.05）. The frequency of T allele genotype was significantly higher than in controls. The difference was significant （~= 9.659, P〈0.01 ）. Conclusion The polymorphism of ET-1 Lys198Asn gene could be related to CHD in Chinese han. T allele might be a marker for susceptibility of CHD.