Objective To investigate the distribution of the single nucleotide polymorphism (SNP) of-251 (rs4073) in cytokine interleukin 8 gene promoter region and +781 (rs2227306) in the first intron in Nantong area population, to explore the correlation between the genotypes of these sites and the risk of suffering hepatocellular carcinoma (HCC), and to analyze the interaction between the genotypes and different exposure factors inducing the occurrence of HCC. Methods By using case-control study and restriction fragment length polymorphism polymerase chain reaction (RFLP-PCR) technique, the genotypes of IL-8 gene-251 site and+781 site were classified. Results (1) In individuals with-251 heterozygous mutation genotype AT the risk of developing HCC increased (OR=1.99, 95%CI: 1.01-3.85), and in individuals with +781 mutation genotype CT and TT the risk of developing HCC increased (+781 CT genotype, OR=1.78, 95%CI:1.03-3.1; +781 TT genotype, OR=1.36, 95%CI: 1.01-2.62). (2) In individuals with -251 and +781 AT-CT, TT-CT, AT-CC combined genotypes the risk of developing HCC increased (AT-CT combined genotype, OR=2.10,95%CI:1.52-2.9;TT-CT combined genotype, OR=3.33, 95%CI: 1.01-10.50; AT-CC combined genotype, OR=3.67, 95%CI:2.28-5.90). (3)SNP of-251 had positive interactions with drinking, HBV infection and family history of HCC in the occurrence of HCC, while negative interactions existed between SNP of this site and exposure factors, including age, gender and smoking, in the occurrence of HCC. SNP of +781 had positive interactions with drinking and family history of HCC in the occurrence of HCC, while negative interactions existed between SNP of this site and exposure factors, including age, sex, smoking and HBV infection, in the occurrence of HCC. Conclusion Definite correlation exists between SNP of -251,+781 sites in interleukin 8 gene and the risk of the occurrence of HCC in Nantong area population;and there are interactive effects between SNP of -251, +781 sites in interleukin 8 gene and several exposure factors.%目的了解南通地区人群白细胞介素8（IL-8）基因启动子区（rs4073）、第1内含子区（rs2227306）位点寡核苷酸多态性（SNP）的分布特点，探讨上述位点各基因型及联合基因型与肝细胞癌（HCC）患病风险的关系，分析各基因型与不同暴露因素在HCC发生中的相互作用。方法采用病例对照研究方法，利用限制性片段长度多态性聚合酶链反应（RFLP-PCR）技术对454例肝癌患者及446名健康对照者IL-8基因-251位点和+781位点进行基因分型。结果①-251位点杂合突变基因型AT者罹患HCC 的风险增加（OR=1.99，95％CI：1.01～3.85），+781位点突变基因型CT、TT 者罹患HCC 的风险增加（CT基因型OR=1.78，95％CI：1.03～3.10；TT基因型OR=1.36，95％CI：1.01～2.62）。②携带-251、+781两位点AT-CT、TT-CT及AT-CC联合基因型的个体罹患HCC的风险增加（AT-CT联合基因型OR=2.10，95％CI：1.52～2.90；TT-CT 联合基因型 OR=3.33，95％CI：1.01～10.50；AT-CC 联合基因型 OR=3.67，95％CI：2.28～5.90）。③-251位点SNP与饮酒、HBV感染、肝癌家族史因素在HCC的发生中存在正交互作用，该位点SNP与年龄、性别、吸烟因素在HCC的发生中存在负交互作用；+781位点SNP与饮酒、肝癌家族史因素在HCC的发生中存在正交互作用，该位点SNP与年龄、性别、吸烟、HBV感染因素在HCC的发生中存在负交互作用。结论南通地区人群IL-8基因-251、+781位点寡核苷酸多态性与HCC患病风险存在关联，并与不同暴露因素在HCC发生中存在交互作用。
展开▼
