摘要
目的在中国汉族人群中探讨TNFA基因启动子区单核苷酸多态性是否与HBV感染结局相关联。方法以148例HBV自限性感染者和207例慢性乙肝患者为研究对象,应用聚合酶链反应-限制性片段长度多态性和序列特异性引物-PCR方法对TNFA基因启动子区5个位点,-238G/A、-308G/A、-857C/T、-863C/A和-1031T/C进行基因型分型,用EPI和EH等统计学软件分析各位点等位基因、基因型、单倍型频率及其组间差异。结果TNFA基因-238位GG基因型在慢性肝炎组的频率显著高于自限性感染组(P=0.02),-857TT基因型的频率在慢性肝炎组显著低于自限性感染组(P=0.02)。TNFA基因-238/-308/-857/-863/-1031组成的单倍型GGCCT的频率在慢性肝炎组显著低于自限性感染组(P=0.03),单倍型GGCAT与GGTAT在慢性肝炎组的频率显著高于自限性感染组(P=0.0001,P=0.004)。结论TNFA基因启动子区多态性与HBV感染结局显著关联。
Objective To explore whether the TNFA promoter single nucleotide polymorphisms （SNPs） are associated with the outcomes of hepatitis B virus（HBV） infection in Chinese Han population. Methods One hundred and forty-eight self-limited HBV infection subjects and 207 chronic hepatitis B patients were recruited. Polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP） and sequence specific primer-PCR（PCR-SSP） were used to detect the SNPs of five sites in TNFA promoter （ - 238G/A, - 308G/A, - 857C/T, - 863C/A, - 1031T/C）. The frequency distributions of genotypes and haplotypes in different groups were analyzed by EPI and EH programs. Results The frequencies of - 238GG genotype in chronic hepatitis B patients were significantly higher than that in self-limited infection subjects （ P = 0.02）. The frequencies of - 857TT genotype in chronic hepatitis B patients were clearly lower than that in self-limited infection subjects （ P = 0.02）. Haplotypic frequencies of GGCCT （ - 238/- 308/- 857/- 863/-1031） in chronic hepatitis B patients was significantly lower than that in self-limited infection subjects （P = 0.03）, and the frequencies of haplotype GGCAT or GGTAT in chronic hepatitis B patients were clearly higher than those in self-limitedinfectionsubjects（P=0.0001; P=0.004）. Conclusion TNFA promoter polymorphisms are important host genetic factors affecting the outcomes of HBV infection.
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
2005年第4期406-410,共5页
Chinese Journal of Medical Genetics
基金
北京市科技计划重大项目(H020920020590)~~
