摘要目的 研究肿瘤坏死因子α(tumor necrosis factor-alpha,TNF-α)基因启动子区域-1031T/C多态与汉族不稳定性心绞痛的相关性.方法 采用MALDI-TOF质谱检测方法,在299例不稳定性心绞痛患者和202名健康对照者中,对TNF-α基因启动子区域的T-1031C多态进行基因分型,并采用酶联免疫吸附实验(enzyme-linked immunosorbent assay,ELISA)法测定其血清浓度.结果 -1031T/C多态的基因型分布及其等位基因频率在两组间相比差异均无统计学意义(P>0.05).但在男性不稳定性心绞痛患者中,其CC、TC和TT基因型分布与对照组相比有统计学意义(P=0.032),男性CC+TC携带者,不稳定性心绞痛的发病危险是TT携带者的1.66倍(95%CI:1.040～2.659).其等位基因频率在两亚组间相比差异无统计学意义(P>0.05).不稳定性心绞痛组的血清TNF-α浓度明显高于对照组(P=0.028,尤其男性亚组P=0.013),TC基因型的血清TNF-α浓度高于其他基因型,但差异无统计学意义(P>0.05).结论 TNF-α基因启动子区域的-1031T/C多态可能与男性不稳定性心绞痛的发生相关,尤其是男性C等位基因携带者.

abstractsObjective To investigate the association between the -1031T/C polymorphism in the promoter of tumor necrosis factor-alpha (TNF-α) gene and unstable angina in Chinese Han population.Methods The genotype of -1031T/C locus was analyzed by MALDI-TOF in 299 patients with unstable angina and 202 healthy controls. The serum TNF-α level was measured by enzyme-linked immunosorbent assay(ELISA). Results There was no significant difference in the genotype distribution and allele frequencies of the-1031T/C locus between the two groups (P>0.05). However, stratification by gender showed that the genotype distribution of this locus was obviously different between the two groups in men (P=0.032). The risk of developing unstable angina in men carrying the CC+TC genotypes were 1.66-fold higher than that in men of TT genotype (95%CI: 1. 040 to 2. 659). There was no significant difference in the frequencies of the C and T alleles between the two subgroups (P>0.05). Furthermore, serum TNF-α levels of the patients were significantly higher than those of controls (P=0.028,P=0.013 in men), but there was no significant difference in the TNF-α level among different genotypes. Conclusion The -1031T/C polymorphism of the TNF-α gene might be associated with unstable angina in male Han population, especially the C allele carriers might be more likely to be affected by unstable angina than the rest of the population.