Department of Gastroenterology, Suzhou Municipal Hospital, Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou 215002, Jiangsu Province, China.
World J Gastroenterol. 2012 Jan 28;18(4):383-7. doi: 10.3748/wjg.v18.i4.383.
To investigate the association between hepatocellular carcinoma (HCC) susceptibility and a 12-bp insertion/deletion polymorphism (rs6147150) in the 3'UTR of ErbB4.
Using a case-control design, the rs6147150 genotypes in 270 patients with HCC and 270 healthy controls were determined by direct polymerase chain reaction and polyacrylamide gel electrophoresis. Logistic regression was used to analyze the association between the polymorphism and cancer risk.
Computational modeling suggested that rs6147150 was located in the seed region of hsa-let-7c, a potential target sequence in ErbB4 3'UTR. Logistic regression analysis showed that, compared with individuals homozygous for wild-type, heterozygotes [adjusted odds ratio (OR) = 1.48, 95% confidence interval (CI) = 1.03-2.17, P = 0.034] and individuals homozygous for 12-bp del/del (OR = 2.50, 95% CI = 1.37-4.56, P = 0.001) were at significantly higher risk of HCC. Carriers of the "del" allele of rs6147150 had a 1.59-fold increased risk for HCC (95% CI = 1.22-2.07, P = 0.003).
rs6147150 may be associated with HCC risk, in part through let-7c-mediated regulation, and may be involved in the pathogenesis of HCC in Chinese populations.
研究表皮生长因子受体 4（ErbB4）3'UTR 中的 12 个碱基插入/缺失多态性（rs6147150）与肝细胞癌（HCC）易感性的关联。
采用病例对照设计，通过直接聚合酶链反应和聚丙烯酰胺凝胶电泳检测 270 例 HCC 患者和 270 例健康对照者的 rs6147150 基因型。采用 logistic 回归分析该多态性与癌症风险的关系。
计算模型提示 rs6147150 位于 hsa-let-7c 的种子区，后者是 ErbB4 3'UTR 的一个潜在靶序列。logistic 回归分析显示，与野生型纯合子相比，杂合子（调整比值比（OR）=1.48，95%置信区间（CI）=1.03-2.17，P=0.034）和 12 个碱基缺失纯合子（OR=2.50，95%CI=1.37-4.56，P=0.001）患 HCC 的风险显著增加。rs6147150 的“del”等位基因携带者患 HCC 的风险增加 1.59 倍（95%CI=1.22-2.07，P=0.003）。
rs6147150 可能与 HCC 风险相关，部分原因是通过 let-7c 介导的调节，并且可能参与了中国人群 HCC 的发病机制。
