Chen Yong-Ping, Yuan Li, Lin Hui-Ran, Huang Xiao-Kai, Ruan Ji-Chen, Zhuo Zhen-Jian
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, 9 Jinsui Road, Guangzhou, 510623, Guangdong, China.
Department of Pathology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, 510623, Guangdong, China.
Discov Oncol. 2021 Dec 15;12(1):62. doi: 10.1007/s12672-021-00459-w.
Central nervous system (CNS) tumors comprise 15-20% of all malignancies occurring in childhood and adolescence. Previous researches have shown that overexpression and amplification of the AURKA gene could induce multiple human malignancies, with which the connection of CNS tumor susceptibility has not been extensively studied.
In this study, we assessed whether and to what extent AURKA gene single nucleotide polymorphisms (SNPs) (rs1047972 C > T, rs2273535 T > A, rs8173 G > C) were associated with CNS tumor susceptibility, based on a case-control analysis in 191 CNS tumor patients and 248 controls. We determined this correlation using odds ratios (ORs) and 95% confidence intervals (CIs).
AURKA gene rs8173 G > C exhibited a crucial function to CNS tumor susceptibility fall-off (GC/CC vs. GG: adjusted OR = 0.68, 95% CI = 0.46-0.998, P = 0.049). In addition, the combined effect of lowering the risk of developing CNS tumors was more pronounced in carriers with 3 protective genotypes than others (adjusted OR = 0.55, 95% CI = 0.31-0.98, P = 0.044). Further stratification analysis illustrated that the existence of rs8173 GC/CC and three protective genotypes lowered CNS tumor risk in some subgroups.
Our research suggested that the AURKA gene rs8173 G > C could significantly reduce CNS tumor susceptibility in Chinese children. More functional experiments are needed to explore the role of the AURKA gene rs8173 G > C.
中枢神经系统(CNS)肿瘤占儿童和青少年所有恶性肿瘤的15% - 20%。先前的研究表明,AURKA基因的过表达和扩增可诱发多种人类恶性肿瘤,然而其与CNS肿瘤易感性之间的联系尚未得到广泛研究。
在本研究中,我们基于对191例CNS肿瘤患者和248例对照的病例对照分析,评估了AURKA基因单核苷酸多态性(SNP)(rs1047972 C>T、rs2273535 T>A、rs8173 G>C)是否以及在何种程度上与CNS肿瘤易感性相关。我们使用比值比(OR)和95%置信区间(CI)来确定这种相关性。
AURKA基因rs8173 G>C对CNS肿瘤易感性下降具有关键作用(GC/CC与GG相比:调整后的OR = 0.68,95% CI = 0.46 - 0.998,P = 0.049)。此外,具有3种保护基因型的携带者降低患CNS肿瘤风险的联合效应比其他携带者更显著(调整后的OR = 0.55,95% CI = 0.31 - 0.98,P = 0.044)。进一步的分层分析表明,rs8173 GC/CC和三种保护基因型的存在降低了某些亚组中的CNS肿瘤风险。
我们的研究表明,AURKA基因rs8173 G>C可显著降低中国儿童的CNS肿瘤易感性。需要更多的功能实验来探索AURKA基因rs8173 G>C的作用。