Li Li, Zhuo Zhenjian, Yang Zhen, Zhu Jinhong, He Xiaoli, Yang Zhonghua, Zhang Jiao, Xin Yijuan, He Jing, Zhang Tiesong
Kunming Key Laboratory of Children's Infection and Immunity, Yunnan Key Laboratory of Children's Major Disease Research, Yunnan Institute of Pediatrics Research, Kunming Children's Hospital, Kunming, Yunnan, 650228, People's Republic of 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, People's Republic of China.
Pharmgenomics Pers Med. 2020 Feb 11;13:51-57. doi: 10.2147/PGPM.S241100. eCollection 2020.
Hepatoblastoma is a rare disease. Its etiology remains obscure. No epidemiological reports have assessed the relationship of () single nucleotide polymorphisms (SNPs) with hepatoblastoma risk. This case-control study leads as a pioneer to explore whether SNPs (rs6581658 A>G, rs8756 A>C, rs968697 T>C) could impact hepatoblastoma risk.
We acquired samples from 275 hepatoblastoma cases and 1018 controls who visited one of five independent hospitals located in the different regions of China. The genotyping of SNPs was implemented using the PCR-based TaqMan method, and the risk estimates were quantified by odds ratios (ORs) and 95% confidence intervals (CIs).
In the main analysis, we identified that rs968697 T>C polymorphism was significantly related to hepatoblastoma risk in the additive model (adjusted OR=0.73, 95% CI=0.54-0.98, =0.035). Notably, participants carrying 2-3 favorable genotypes had reduced hepatoblastoma risk (adjusted OR=0.71, 95% CI=0.52-0.96, =0.028) in contrast to those carrying 0-1 favorable genotypes. Furthermore, stratification analysis revealed a significant correlation between rs968697 TC/CC and hepatoblastoma risk for males and clinical stage I+II. The existence of 2-3 protective genotypes was correlated with decreased hepatoblastoma susceptibility in children ≥17 months old, males, and clinical stage I+II cases, when compared to 0-1 protective genotype.
To summarize, these results indicated that the gene SNPs exert a weak influence on hepatoblastoma susceptibility. Further validation of the current conclusion with a larger sample size covering multi-ethnic groups is warranted.
肝母细胞瘤是一种罕见疾病。其病因仍不明确。尚无流行病学报告评估（）单核苷酸多态性（SNP）与肝母细胞瘤风险之间的关系。本病例对照研究率先探索SNP（rs6581658 A>G、rs8756 A>C、rs968697 T>C）是否会影响肝母细胞瘤风险。
我们从中国不同地区五家独立医院就诊的275例肝母细胞瘤病例和1018例对照中获取样本。采用基于聚合酶链反应的TaqMan方法对SNP进行基因分型，并通过比值比（OR）和95%置信区间（CI）对风险估计值进行量化。
在主要分析中，我们发现rs968697 T>C多态性在加性模型中与肝母细胞瘤风险显著相关（校正OR=0.73，95%CI=0.54 - 0.98，P=0.035）。值得注意的是，与携带0 - 1个有利基因型的参与者相比，携带2 - 3个有利基因型的参与者肝母细胞瘤风险降低（校正OR=0.71，95%CI=0.52 - 0.96，P=0.028）。此外，分层分析显示rs968697 TC/CC与男性及临床I + II期肝母细胞瘤风险之间存在显著相关性。与0 - 1个保护性基因型相比，存在2 - 3个保护性基因型与≥17个月儿童、男性及临床I + II期病例的肝母细胞瘤易感性降低相关。
综上所述，这些结果表明该基因SNP对肝母细胞瘤易感性影响较弱。有必要用覆盖多民族群体的更大样本量进一步验证当前结论。
