Department of Pediatric Surgery, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.
First Affiliated Hospital of Sun Yat-Sen University, Guangzhou, China.
J Cell Mol Med. 2021 Jan;25(2):742-750. doi: 10.1111/jcmm.16124. Epub 2020 Nov 24.
H19 polymorphisms are associated with increased susceptibility to several cancers; however, their role in hepatoblastoma remains unclear. In this study, we investigated the association between three H19 polymorphisms (rs2839698 G>A, rs3024270 C>G, rs217727 G>A) and hepatoblastoma susceptibility in 213 hepatoblastoma patients. The rs2839698 and rs3024270 polymorphisms were associated with significantly increased hepatoblastoma risk, with the GG genotype associated with a higher risk of hepatoblastoma than the CC genotype at the rs3024270 locus. The rs217727 polymorphism was associated with significantly decreased hepatoblastoma risk, with the AG genotype associated with a lower risk of hepatoblastoma than the GG genotype. These findings were confirmed by combined analysis, and stratification analysis revealed that age, gender and clinical stage were associated with increased hepatoblastoma susceptibility. The GGG and AGG haplotypes were significantly associated with increased hepatoblastoma risk compared with the GCA reference (rs2839698, rs3024270, rs217727). The rs2839698 and rs3024270 polymorphisms correlated with decreased MRPL23-AS1 expression, whereas the rs217727 polymorphism was associated with increased MRPL23-AS1 expression. Overall, the H19 rs2839698, rs3024270 and rs217727 polymorphisms were associated with hepatoblastoma susceptibility in a Chinese Han population.
H19 多态性与多种癌症的易感性增加有关;然而,其在肝母细胞瘤中的作用尚不清楚。在这项研究中,我们调查了三个 H19 多态性(rs2839698 G>A、rs3024270 C>G、rs217727 G>A)与 213 例肝母细胞瘤患者肝母细胞瘤易感性之间的关系。rs2839698 和 rs3024270 多态性与肝母细胞瘤风险显著增加相关,与 rs3024270 位点的 CC 基因型相比,GG 基因型肝母细胞瘤的风险更高。rs217727 多态性与肝母细胞瘤风险显著降低相关,与 GG 基因型相比,AG 基因型肝母细胞瘤的风险较低。这些发现通过合并分析得到了证实,分层分析显示年龄、性别和临床分期与肝母细胞瘤易感性增加有关。GGG 和 AGG 单倍型与 GCA 参考(rs2839698、rs3024270、rs217727)相比,与肝母细胞瘤风险显著增加相关。rs2839698 和 rs3024270 多态性与 MRPL23-AS1 表达降低相关,而 rs217727 多态性与 MRPL23-AS1 表达增加相关。总的来说,H19 rs2839698、rs3024270 和 rs217727 多态性与中国汉族人群的肝母细胞瘤易感性相关。