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目的探讨广西地区肝细胞癌遗传易感性与人群转化生长因子β1(TGF-β1)基因和白细胞介素12B(IL-12B)基因单核苷酸多态性关系。方法采用以医院为基础的病例对照研究,选取广西户籍的新发肝细胞癌患者608例,选取相同户籍地、年龄、性别和民族频数匹配的非肿瘤患者612例作为对照,采用TaqMan MGB实时荧光定量PCR方法检测TGF-β1 rs1800469(-509 C>T)位点和IL-12B rs3212227(3’UTR+1188A>C)位点基因单核苷酸多态性,比较不同基因型与肝细胞癌患病风险的关系。结果对照组IL-12B基因rs3212227位点的C突变等位基因频率为43.5%,病例组为48.9%,差异有统计学意义(P<0.05);与IL-12B基因rs3212227位点AA基因型相比,携带rs3212227 AC杂合子及携带rs3212227 CC突变基因型的个体发生原发性肝细胞癌的风险明显升高(分别校正OR=1.271,95%CI=0.976～1.655;校正OR=1.515,95%CI=1.092～2.102);IL-12B基因rs3212227位点AC+CC基因型可增加女性和<55岁者罹患肝细胞癌的风险(分别校正OR=2.036,95%CI=1.169-3.548;校正OR=1.529,95%CI=1.129～2.071);肝细胞癌患病风险与TGF-β1基因rs1800469位点多态性无明显关联。结论 IL-12B基因rs3212227位点与广西地区人群原发性肝细胞肝癌发病风险明显关联。
Objective To investigate the relationship between genetic susceptibility to hepatocellular carcinoma (HCC) in Guangxi and single nucleotide polymorphisms of transforming growth factor β1 (TGF-β1) gene and interleukin 12B (IL-12B) gene in Chinese population. Methods A case-control study based on a hospital-based study was conducted in 608 newly diagnosed HCC patients in Guangxi. 612 non-tumor patients with the same place of domicile, age, gender and ethnic frequency were selected as control. TaqMan MGB real-time fluorescence The single nucleotide polymorphisms of TGF-β1 rs1800469 (-509 C> T) and IL-12B rs3212227 (3’UTR + 1188A> C) were detected by quantitative polymerase chain reaction The relationship between the risk of illness. Results The allele frequency of C mutation at rs3212227 in IL-12B gene was 43.5% in the control group and 48.9% in the case group (P <0.05). Compared with the genotype AA of rs3212227 in IL-12B gene (OR = 1.271, 95% CI = 0.976-1.655, respectively; corrected OR = 1.515, 95% confidence interval, respectively) CI = 1.092-2.102). The genotype AC + CC of rs3212227 in IL-12B gene increased the risk of hepatocellular carcinoma in women and <55 years (OR = 2.036, 95% CI = 1.169-3.548, respectively; = 1.529, 95% CI = 1.129 ~ 2.071). There was no significant correlation between the risk of hepatocellular carcinoma and rs1800469 polymorphism of TGF-β1 gene. Conclusion The rs3212227 locus of IL-12B gene is significantly associated with the risk of primary hepatocellular carcinoma in Guangxi population.