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目的 :探讨Hedgehog(Hh)信号通路基因启动子区多态性与广西地区人群肝细胞癌遗传易感性的关系。方法 :采用以医院为基础的病例对照研究,以1 041例肝细胞癌患者和1 074例非肿瘤对照者为研究对象,应用Sequenom Mass Array基因分型技术检测Hh信号通路基因启动子区的9个潜在功能性多态性位点的基因型,并分析各多态性位点与肝细胞癌易感性的关系。结果:在调整年龄、性别、吸烟、饮酒以及HBV感染等因素后,携带STK36基因rs34237608 AG基因型者罹患肝细胞癌的风险降低(OR=0.67,95%CI=0.47~0.95;P=0.025);GG基因型与肝细胞癌易感性之间的关系无统计学意义(P>0.05);在显性模型下,rs34237608位点AG/GG基因型可降低罹患肝细胞癌的风险(OR=0.67,95%CI=0.48~0.95;P=0.025)。本研究未发现其他候选位点多态性与肝细胞癌易感性有统计学意义。结论:STK36基因rs34237608位点多态性可能与广西人群肝细胞癌易感性有关联。
Objective: To investigate the relationship between Hedgehog (Hh) signaling pathway promoter polymorphism and genetic susceptibility to hepatocellular carcinoma in Guangxi population. Methods: A hospital-based case-control study was conducted in 1 041 hepatocellular carcinoma patients and 1 074 non-tumor control subjects. Sequenom Mass Array genotyping was used to detect the promoter region of Hh signaling pathway 9 Genotypes of potential functional polymorphic loci and to analyze the relationship between polymorphic loci and susceptibility to hepatocellular carcinoma. Results: The risk of developing hepatocellular carcinoma was lower in patients with the rs34237608 AG genotype of STK36 gene (OR = 0.67, 95% CI = 0.47-0.95, P = 0.025) after adjusting for age, sex, smoking, alcohol consumption, (P> 0.05). In the dominant model, AG / GG genotype at rs34237608 reduced the risk of hepatocellular carcinoma (OR = 0.67 , 95% CI = 0.48-0.95; P = 0.025). This study did not find other candidate site polymorphisms and susceptibility to hepatocellular carcinoma was statistically significant. Conclusion: The rs34237608 polymorphism of STK36 gene may be associated with the susceptibility of hepatocellular carcinoma in Guangxi population.