Yang Zhonghua, Deng Yuyao, Zhang Keren, Bai Yuzuo, Zhu Jinhong, Zhang Jiao, Cheng Jiwen, Li Li, He Jing, Wang Weilin
Department of Pediatric Surgery, Shengjing Hospital of China Medical University, Shenyang 110004, Liaoning, China.
Department of Clinical Medicine, The Fourth Affiliated Hospital of China Medical University, Shenyang 110001, Liaoning, China.
J Cancer. 2021 Jan 1;12(5):1373-1378. doi: 10.7150/jca.52621. eCollection 2021.
Hepatoblastoma (HB) is the most prevalent primary hepatic cancer in children aged 6 months to 3 years. is recurrently mutated in various diseases, and critically involved in tumorigenesis. However, a limited number of studies have examined the involvement of polymorphisms in HB risk. We used the TaqMan assay to genotype four polymorphisms (rs3811464 G>A, rs3811463 T>C, rs34787247 G>A, and rs11247957 G>A) in 275 Chinese children with HB and 1018 cancer-free controls from five medical centers in China. Their association with HB risk was evaluated on the basis of odds ratio (OR) and corresponding 95% confidence interval (CI). Overall, no significant associations were found in single locus and combine analysis. Interestingly, in the stratified analysis, we found that subjects with 1-3 risk genotypes were more likely to develop HB in patients ≥17 months of age (adjusted OR=1.76, 95% CI=1.04-2.98, =0.034). The rs3811464 GA/AA genotypes were associated with decrease HB risk in patients with clinical stage III+IV disease (adjusted OR=0.50, 95% CI=0.26-0.96, =0.038). Our results suggest that the polymorphisms have a weak association with HB susceptibility in the Chinese children. rs3811464 G>A may decrease HB risk in stage III+IV patients which need further validations with larger samples and different ethnicities.
肝母细胞瘤（HB）是6个月至3岁儿童中最常见的原发性肝癌。其在多种疾病中反复发生突变，并在肿瘤发生过程中起关键作用。然而，仅有少数研究探讨了其多态性与HB风险的关系。我们采用TaqMan分析法，对来自中国五个医疗中心的275例中国HB患儿和1018例无癌对照儿童的四个多态性位点（rs3811464 G>A、rs3811463 T>C、rs34787247 G>A和rs11247957 G>A）进行基因分型。基于优势比（OR）和相应的95%置信区间（CI）评估它们与HB风险的关联。总体而言，在单基因座和联合分析中未发现显著关联。有趣的是，在分层分析中，我们发现1 - 3个风险基因型的受试者在年龄≥17个月的患者中更易发生HB（校正OR = 1.76，95% CI = 1.04 - 2.98，P = 0.034）。rs3811464 GA/AA基因型与临床III + IV期疾病患者的HB风险降低相关（校正OR = 0.50，95% CI = 0.26 - 0.96，P = 0.038）。我们的结果表明，该多态性与中国儿童的HB易感性存在弱关联。rs3811464 G>A可能会降低III + IV期患者的HB风险，这需要在更大样本和不同种族中进一步验证。
