Hedgehog信号通路基因启动子区多态性与广西地区人群肝细胞癌易感性的关系

Association between single nucleotide polymorphisms in the promoter regions of Hedgehog signaling pathway genes and susceptibility to hepatocellular carcinoma in Guangxi population

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 explore the relationship between single nucleotide polymorphisms （SNPs） located in the promoter regions of Hedgehog signaling pathway genes and the risk of hepatocellular carcinoma （HCC）. Methods：A hospital-based case-control study was conducted in 1 041 patients with HCC and 1 074 cancer-free controls. Using the Sequenom Mass Array platform,we detected nine candidate SNPs and then evaluated the associations between the selected SNPs and HCC risk. Results：After adjusted by age,sex,smoking,drinking status and HBV infection,the results showed that the genotype AG of STK36 gene rs34237608 polymorphism was significantly associated with a decreased risk of HCC （AG vs. AA：OR=0.67,95%CI= 0.47-0.95;P=0.025）,while the GG genotype was not （P 〉 0.05）. In the dominant model,rs34237608 polymorphism was significantly associated with HCC risk （AG/GG vs. AA：OR=0.67,95%CI=0.48-0.95;P=0.025）. No significant associations between other SNPs and HCC risk were found. Conclusion： The STK36 gene rs34237608 A〉G polymorphism may contribute to susceptibility to HCC in Guangxi population.