中文摘要：

目的探讨细胞因子IFN-γ基因-1615C/T和＋5171A/G位点单核苷酸多态性在广西人群中的分布及其对原发性肝细胞癌（HCC）发生、乙型肝炎病毒（HBV）感染的影响。方法设计以医院为基础的病例对照研究,对375名HCC患者、377名HBV携带者和406健康对照进行频数匹配,采用Taq-Man MGB实时荧光定量PCR技术对上述位点进行分型。应用Logistic回归模型分析基因型在三组中的分布差异及基因环境交互作用,并进行连锁不平衡和单倍型分析。结果 -1615C/T和＋5171 A/G位点的基因多态性在三组中分布差异无统计学意义（P〉0.05）。Logistic回归分析结果显示,吸烟、饮酒和肝癌相关家族史与基因存在交互作用;饮酒联合-1615C/T位点突变型基因T能增加HBV感染风险（OR=1.72,95%CI：1.11～3.26）;两个位点的突变型基因T和G联合肝癌相关家族史能增加HCC患病风险（OR：29.24、52.03,95%CI：6.91～123.6、7.02～385.4）。IFN-γ的-1615C/T和＋5171A/G位点存在连锁不平衡（D′=0.976,P=2.22-16）,但单倍型分布在HCC组与总对照组（HBV携带者对照和健康对照）间无统计学差异。结论IFN-γ的-1615C/T和＋5171A/G位点的突变型基因可能不是广西人患HCC和感染HBV的直接危险因素,但环境危险因素对HCC发生和HBV感染有协同作用。

英文摘要：

Objective To explore the distribution of cytokines IFN-gamma gene（-1615C/T and ＋5171A/G）single nucleotide polymorphisms in Guangxi people,and the impact of hepatitis B virus（HBV）infection and primary hepatocellular carcinoma（HCC）occurrence.Methods A case-control study based on hospital was carried out and all the objects were frequency matched by 375 HCC patients-377 HBV carriers-406 healthy control.TaqMan MGB Real-Time fluorescence quantitative PCR technology was applied to detect the SNPs of the two loci.The distribution of the genotype and the interaction of gene-environment in the three groups were analyzed by Logistic regression model.The linkage disequilibrium and haplotype of IFN-gamma gene were analyzed.Results There was no significant statistically difference in the polymorphisms of-1615C/T and ＋5171A/G loci among the three groups（P0.05）.There were gene-environment interactions in smoking,alcohol consumption,liver cancer related family history with IFN-gamma gene according to logistic regression analysis.Alcohol consumption combined-1615 locus mutant gene G increased HBV infection risk（OR=1.72,95%CI：1.11~3.26）.The two loci mutant genes combined with liver cancer related family history also enhanced HCC risk（OR：29.24,52.03,95%CI：6.91~123.6,7.02~385.4,respectively）.-1615C/T and ＋5171A/G sites on IFN-gamma had linkage disequilibrium（D′=0.976,P=2.22-16）,but the haplotypes between HCC groups and the total controls（HBV carriers and healthy control）had no significant statistically difference.Conclusion The mutant genes of-1615C/T and ＋5171A/G loci might not influence the occurrence of HCC and HBV infection directly in the population of Guangxi,however they enhanced the risk interacted with the environment risk factors.