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目的:探讨TGF-β1基因多态性与肝炎后肝纤维化的关系。方法:以实时荧光PCR结合熔点曲线分析,建立可高通量检测TGF-β1编码区3个单核苷酸多态性(SNPs)位点的LightCycler方法,这3个位点分别为Leu10Pro(T>C)、Arg25Pro(G>C)、Thr263Ile(C>T),并对亚洲人群中HBV感染导致的肝纤维化患者(90例)及高加索人群中HCV感染导致的肝纤维化患者(210例)进行SNP分析,并分别与104例亚洲人群和50例高加索人群正常献血员进行比较。结果:亚洲人群中病患组与正常对照组TGF-β1编码区第25、263位氨基酸皆无基因多态性,与高加索人群的检测结果有显著差异;而亚洲人群第10位氨基酸基因多态性出现频率相对较高,病患组(T／C=0.444／0.556)较正常对照组(T／C=0.514／0.486)突变频率稍高,但无显著差异。在高加索人群HCV感染导致的肝纤维化患者中第10、25位氨基酸基因多态性出现的频率与肝纤维化发展程度(average METAVIR-Score)密切相关。结论:提示TGF-β1基因多态性与高加索人群肝炎后肝纤维化的发生具有重要相关性;与亚洲人群肝炎后肝纤维化发生的相关性有待进一步研究。
Objective: To investigate the relationship between TGF-β1 gene polymorphism and hepatic fibrosis after hepatitis. Methods: LightCycler method was established to detect three single nucleotide polymorphisms (SNPs) in TGF-β1 coding region by real-time PCR and melting point analysis. The three sites were Leu10Pro (T (C> T) and Thr263Ile (C> T) in Asian population, and in patients with liver fibrosis caused by HBV infection (90 cases) in Asian population and in patients with hepatic fibrosis caused by HCV infection (210 cases ) For SNP analysis and compared with 104 normal Asian and 50 Caucasian normal blood donors, respectively. Results: There was no genetic polymorphism at the 25th and 263th positions in TGF-β1 coding region in Asian population and normal controls, which was significantly different from that in Caucasians. In Asian population, the 10th amino acid polymorphism The frequency of sexual events was relatively high, and the frequency of mutation was slightly higher in the patients (T / C = 0.444 / 0.556) than in the normal controls (T / C = 0.514 / 0.486). The frequency of amino acid polymorphisms at amino acid positions 10 and 25 in HCV-infected liver fibrosis patients in Caucasians is closely related to the average METAVIR-Score. Conclusion: It is suggested that there is an important correlation between TGF-β1 gene polymorphism and hepatic fibrosis in Caucasians. The correlation between TGF-β1 gene polymorphism and hepatic fibrosis in the Asian population remains to be further studied.