Ren Hui, Zhuo Zhen-Jian, Duan Fei, Li Yong, Yang Zhonghua, Zhang Jiao, Cheng Jiwen, Li Suhong, Li Li, Geng Jianlei, Zhang Zhiguang, He Jing, Niu Huizhong
Department of Pediatric General Surgery, Hebei Children's Hospital of Hebei Medical University, Shijiazhuang 050031, Hebei, China.
Department of Pediatric Surgery, Guangzhou Institute of Pediatrics, Guangdong Provincial Key Laboratory of Research in Structural Birth Defect Disease, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou 510623, Guangdong, China.
J Oncol. 2021 Mar 19;2021:6658480. doi: 10.1155/2021/6658480. eCollection 2021.
Incidence of hepatoblastoma has been increasing, but the causes of this disease remain unclear. Some studies have suggested that abnormal expressions of gene are associated with multiple cancers. This study aims to test the hypothesis that hepatoblastoma risk may be modulated by genetic polymorphisms in gene based on genotyped data from samples of 328 cases and 1476 controls enrolled from eight hospitals in China. We used TaqMan assay to genotype gene single nucleotide polymorphisms (SNPs) rs1378602G > A and rs8400G > A. We calculated the odds ratios (ORs) and values using logistic regression models to estimate the association between hepatoblastoma risk and gene SNPs. We found the rs1378602G > A and rs8400G > A could not impact hepatoblastoma risk in single or combined analysis. Stratified analysis revealed that subjects with the rs8400 AA genotype are prone to getting hepatoblastoma in the clinical stage III + IV subgroup (adjusted OR = 1.93, 95% CI = 1.20-3.10, =0.007), when compared to those with GG/GA genotype. False-positive report probability validated the reliability of the significant results. Preliminary functional annotations revealed that rs8400 A is correlated with increased expression of gene in the expression quantitative trait locus (eQTL) analysis. In all, our investigation presents evidence of a weak impact of gene polymorphisms on hepatoblastoma risk, using the largest hepatoblastoma sample size. These findings shed some light on the genetic basis of hepatoblastoma, implicating the role of gene polymorphisms in the etiology of hepatoblastoma.
肝母细胞瘤的发病率一直在上升,但其病因仍不清楚。一些研究表明,基因的异常表达与多种癌症相关。本研究旨在基于从中国八家医院招募的328例病例和1476例对照样本的基因分型数据,检验肝母细胞瘤风险可能受基因单核苷酸多态性调控的假设。我们使用TaqMan分析法对基因单核苷酸多态性(SNP)rs1378602G>A和rs8400G>A进行基因分型。我们使用逻辑回归模型计算比值比(OR)和P值,以估计肝母细胞瘤风险与基因SNP之间的关联。我们发现,在单因素或联合分析中,rs1378602G>A和rs8400G>A均不会影响肝母细胞瘤风险。分层分析显示,与GG/GA基因型相比,rs8400 AA基因型的受试者在临床III+IV期亚组中更容易患肝母细胞瘤(校正OR=1.93,95%CI=1.20-3.10,P=0.007)。假阳性报告概率验证了显著结果的可靠性。初步功能注释显示,在表达数量性状位点(eQTL)分析中,rs8400 A与基因表达增加相关。总之,我们的研究使用了最大的肝母细胞瘤样本量,提供了基因多态性对肝母细胞瘤风险影响较弱的证据。这些发现为肝母细胞瘤的遗传基础提供了一些线索,暗示了基因多态性在肝母细胞瘤病因学中的作用。