Wu Jia, Zhang Wei, Xu Aiqiang, Zhang Li, Yan Tao, Li Zhuo, Wu Xiaopan, Zhu Xilin, Ma Juan, Li Ke, Li Hui, Liu Ying
National Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences, School of Basic Medicine, Peking Union Medical College, Beijing, People's Republic of China.
Genet Test Mol Biomarkers. 2013 Aug;17(8):595-600. doi: 10.1089/gtmb.2013.0031. Epub 2013 Jun 22.
Hepatocellular carcinoma (HCC) is a common solid malignant tumor occurring worldwide that leads to the third largest cause of death compared to other cancers. Genetic and environmental factors are involved in the pathogenesis of HCC. Epidermal growth factor (EGF) and epidermal growth factor receptor (EGFR) can stimulate the proliferation of epidermal and epithelial cells. The EGF signal pathway has a relationship with the growth of the embryo, tissue repairing, and tumorigenesis.
In this study, 416 patients with hepatitis B virus infection (HBV)-related HCC and 645 individuals who had never been infected with HBV of the Chinese Han population were enrolled. Eight single-nucleotide polymorphisms (SNPs), whose minor allele frequency >20% in the EGF and EGFR genes, were genotyped to examine their associations with hepatocarcinogenesis. Genotyping experiments were carried out using TaqMan.
There were significant differences in genotype distributions (p=0.005) and allele frequencies (p=0.001, odds ratio [OR]=1.43, 95% confidence interval [CI]=1.15-1.79) of rs11569017 in the EGF gene between the HCC and control groups. After binary logistic regression to determine independent factors for susceptibility to HCC under an additive model, rs11569017 was still independently associated with the susceptibility to HCC (p=0.021, OR=1.48, 95% CI=1.06-2.07), but no significant differences in other SNPs were found. Additionally, the haplotype T-G constructed by rs11569017 and rs4444903 of the EGF gene might increase the risk of HBV-related HCC (p=0.002, OR=1.44, 95% CI=1.15-1.82).
The rs11569017 T allele was associated with susceptibility to HBV-related HCC.
肝细胞癌（HCC）是一种在全球范围内常见的实体恶性肿瘤，与其他癌症相比，是导致死亡的第三大原因。遗传和环境因素参与了HCC的发病机制。表皮生长因子（EGF）和表皮生长因子受体（EGFR）可刺激表皮和上皮细胞的增殖。EGF信号通路与胚胎发育、组织修复及肿瘤发生有关。
本研究纳入了416例中国汉族人群中乙型肝炎病毒感染（HBV）相关的HCC患者以及645例从未感染过HBV的个体。对EGF和EGFR基因中次要等位基因频率>20%的8个单核苷酸多态性（SNP）进行基因分型，以研究它们与肝癌发生的关联。基因分型实验采用TaqMan法进行。
HCC组与对照组之间，EGF基因中rs11569017的基因型分布（p = 0.005）和等位基因频率（p = 0.001，优势比[OR]=1.43，95%置信区间[CI]=1.15 - 1.79）存在显著差异。在加性模型下进行二元逻辑回归以确定HCC易感性的独立因素后，rs11569017仍与HCC易感性独立相关（p = 0.021，OR = 1.48，95% CI = 1.06 - 2.07），但在其他SNP中未发现显著差异。此外，由EGF基因的rs11569017和rs4444903构建的单倍型T - G可能会增加HBV相关HCC的风险（p = 0.002，OR = 1.44，95% CI = 1.15 - 1.82）。
rs11569017的T等位基因与HBV相关HCC的易感性有关。
