目的 風濕性心臟病是以慢性發炎過程為其表徵，細胞激素甲型腫瘤壞死因子在慢性發炎反應上擔任重要角色。本研究的目的在探討甲型腫瘤壞死因子基因多型性是否能當作台灣人風濕性心臟病病患感受性或危險性的標記。方法 以115位經心臟超音波診斷為風濕性心臟病病患及103位年齡性別相配的正常人為對象，用聚合酶連鎖反應限制酶分析怯研究風濕性心臟病患及正常人的甲型腫瘤壞死因子基因G-308A及G-238A之多型性。結果 風濕性心臟病患及正常人間的甲型腫瘤壞死因子基因G-308A及G-238A之多型性基因型及對偶基因頻率分佈並無差異。將風濕性心臟病病患分成二尖瓣疾病及多瓣膜疾病兩組，也未發現兩組間的甲型腫瘤壞死因子基因G-308A及G-238A之多型性基因型及對偶基因頻率分佈有統計學上的差異。結論 甲型腫瘤壞死因子基因G-308A及G-238A多型性不適合當作台灣人風濕性心臟病的標記。
Purpose. The aim of this study was to test whether tumor necrosis factor (TNF)-α gene polymorphisms could be used as markers of susceptibility or severity of rheumatic heart disease (RHD) among the Chinese population in Taiwan. Methods. A group of 115 patients with RHD diagnosed by echocardiography, and another group of 103 age and sex-matched normal control subjects were studied. TNF-α gene G-308A and G-238A polymorphisms were identified by polymerase chain reaction-based restriction analysis. Results. There was no significant difference in the distribution of genotypes and allelic frequencies of the TNF-α gene G-308A and G-238A polymorphisms between RHD patients and controls. Further categorization of RHD patients into mitral valve disease and combined valve disease subgroups also revealed no statistical difference in these gene polymorphisms when compared with controls. Conclusions. These findings suggest that the TNF-α gene G-308A and G-238A polymorphisms are not suitable genetic markers for RHD in Taiwan Chinese.
