转化生长因子β1信号肽区单核苷酸多态性与慢性丙型肝炎的相关性

Polymorphism of codon25 in signal peptide region of transforming growth factor beta 1 and its association with chronic hepatitis C virus infection

目的探讨HCV感染者转化生长因子β1（TGFβ1）信号肽区密码子25基因多态性与HCV感染的相关性。方法采用扩增阻碍突变系统方法，分析106名健康对照者和85例慢性HCV感染者的TGFβ1信号肽区密码子25基因多态性。结果TGFβ1信号肽区密码子25的基因型分布与基因频数在HCV感染组和对照组之间、慢性丙型肝炎组和HCV相关肝硬化组之间的差异均无统计学意义。密码子25基因型分布在ALT正常组和ALT升高组之间的差异无统计学意义，但G基因频数在ALT升高组（G=108）较ALT正常组（G=47）高（P=0．040）。密码子25基因型分布在无病毒血症组（GG=18，CG=5，CC=3）和病毒血症组（GG=55，CG=4）之间的差异有统计学意义（P=0．005），且G等位基因更多出现于病毒血症组（P=0．000）。结论TGFβ1信号肽区密码子25G→C突变影响HCV感染肝脏炎性反应，G等位基因与HCV感染病毒血症相关，TGFβ1信号肽区密码子25G→C突变可能是影响HCV感染结局的因素之一。

Objective To investigate the possible relationship between polymorphism of codon25 in signal peptide region of transforming growth factor beta 1 （TGF β1） and hepatitis C virus （HCV） infection susceptibility. Methods Genotypes of TGF β1 of 191 subjects （85 HCV infected patients and 106 healthy controls） were studied. Genotypes ofTGF β1 codon25 were determined by amplification refractory mutation system （ARMS）. Results Differences of codon25 polymorphism were not found between HCV infected patients and the controls （P 〉 0.05）, which showed a similar pattern between the chronic hepatitis C group and HCV-associated liver cirrhosis group （P 〉 0.05）. There were no differences of genotype distribution of codon25 between ALT normal and ALT elevated patients （P 〉 0.05）, but G allele frequency was higher in ALT elevated group （P = 0.040）. There were great differences between the distribution of genotypes （P = 0.005） and allele frequency （P = 0.000） of the HCV RNA positive and the negative groups in that the HCV RNA positive group differed greatly from the negative group. Conclusion Polymorphism of TGF β1 codon25 may influence the grade of liver inflammatory activity. High G allele frequency of codon25 may be associated with viremia in patients with chronic HCV infection. It seems that polymorphism of codon25 in the signal peptide region of TGF β1 may contribute to the outcome of HCV infected patients.