中文摘要：

目的：探讨PLXNC1基因多态性与广西肝癌遗传易感性关系及表达。方法：以广西20个肝癌高发家族（肝癌家族组79例）和10个健康对照家族（健康对照组40例）为研究对象,应用飞行时间质谱技术检测两组中PLXNC1基因rs2272335的基因型及等位基因频率,免疫组织化学染色检测PLXNC1在不同肝组织中的表达。结果：PLXNC1基因rs2272335位点健康对照组人群中携带C等位基因型的个体发生干细胞肝癌（hepatocellular carcinoma,HCC）的风险分别是T等位基因型个体的4.16倍（95%CI为0.37~47.3）,差异有统计学意义（P=0.032）。核心成员组与肝癌患者组两组间差异无统计学意义（P〉0.05）。PLXNC1基因rs2272335位点基因型TT、TC、CC在肝癌患者组人群、核心成员组人群、健康对照组人群三组间者差异无统计学意义（P〉0.05）。肝癌组织中,PLXNC1蛋白表达水平3.12±1.12显著高于肝癌癌旁组织1.54±0.67和正常肝组织1.23±0.87（P〈0.05）。结论：PLXNC1基因rs2272335位点C等位基因型可能是广西HCC发生的危险因素。PLXNC1过度表达与肝癌发生密切相关。

英文摘要：

Objective： To investigate the correlation between plexin C1（PLXNC1） rs2272335 polymorphism and the family clustering genetic susceptibility to primary liver cancer（PLC） in Guangxi and the expression of PLXNC1. Methods： Genotype and alleles of rs2272335 were determined in 20 liver cancer family groups（79 cases） and 10 healthy normal control groups（40 cases） in Fusui County through Time of Flight Mass Spectrometer. Immunohistochemistry detected the PLEXNC1 protein expression. Results： For the alleles of PLXNC1（rs2272335） site, the risk of hepatocellular carcinoma（HCC） for individuals with [C] allele was 4.16-fold（95% CI =0.37-47.3, P=0.032） compared with that for individuals with [T] allele among the members of the healthy normal control group. The frequencies of the [C] and [T] alleles were similar in the HCC patients and the core individuals of liver cancer families（P〉0.05）. For the genotype of the PLXNC1（rs2272335） site, the differences in frequencies of TT, TC, and CC genotypes were not statistically significant among the PLC patients and the core individuals of the liver cancer families and normal controls. The PLXNC1 protein expression in HCC（3.12±1.12） was higher than in hepatocellular paracancerous tissues（1.54±0.67） and in benign hepatocellular lesions（1.23±0.87）（P0.05）. Conclusion： The [C] allele of PLXNC1（rs2272335） site might be the risk gene for the occurrence of PLC family clustering in Guangxi. PLXNC1 protein overexpression was closely correlated with PLC oncogenesis.