肿瘤坏死因子-α基因启动子区域多态与冠心病的相关性

Association between single nucleotide polymorphism in tumor necrosis factor-α gene promoter and coronary heart disease

目的:研究肿瘤坏死因子α(tumor necrosis factor-alpha,TNF-α)基因启动子区域的3种单核苷酸多态与上海地区汉族人冠心病发病的相关性。方法:采用基质辅助激光解吸附电离飞行时间质谱(MALDI-TOF)检测方法,对286例冠心病患者(其中心肌梗死患者101例,为心肌梗死亚组)和202名健康对照者(对照组)的TNF-α基因启动子区域C-863A、G-308A、G-238A多态进行基因分型。结果:C-863A、G-308A、G-238A多态的基因型分布及其等位基因频率在冠心病患者与对照组间相比,差异均无统计学意义(P>0.05),且在不同病变组(指根据冠状动脉受累血管支数,分为单支病变组和多支病变组)间亦无显著性差异(P>0.05)。心肌梗死亚组患者G-308A和G-238A多态的基因型分布与对照组相比,差异有统计学意义(P=0.041和0.023),但其G、A等位基因频率在2组间差异均无统计学意义(P>0.05)。心肌梗死患者携带-308AA基因型的频率明显低于对照组(7.00%比13.07%,P<0.05)。结论:TNF-α基因启动子区域的G-308A和G-238A多态可能与上海地区汉族人心肌梗死的发生相关,其中-308A等位基因可能降低心肌梗死的发生。

Objective To investigate the association between three single nucleotide polymorphisms （SNPs） in tumor necrosis factor-α（TNF-α） gene promoter and coronary heart disease （CHD） in Shanghai Han population. Methods Polymorphisms at position -863 （C/A）,-308（G/A） and -238（G/A） in tumor necrosis factor-α gene promoter in 286 CHD patients （inleuding 101 patients with myocardial infarction） and 202 healthy controls were determined by matrix assisted laser desorption ionization time of flight （MALDI-TOF） mass spectrometry. Results The distribution of C-863A, G-308A and G-238A genotypes and allele frequencies were not significantly different between CHD group and control group （P〉 0.05）, and the same were seen between single coronary artery disease group and multiple coronary artery disease group. Further analysis showed that the distribution of polymorphism genotypes G-308A and G-238A was different between myocardial infarction （MI） group and control group （P=0.041 and 0.023）, the carrier rate of -308AA was signifieantly lower in MI group than that in control group. However, the difference of allele frequencies between MI group and eontrol group was not statistically significant （P〉0.05）. Conclusions G-308A and G-238A polymorphisms in TNF-α gene promoter might play a role in the occurrence of myocardial infarction in Shanghai Han population and the earriage of -308AA might lower the occurrence of myocardial infarction.