Lin Qiuling, Qiu Moqin, Wei Xueyan, Xiang Zhouyun, Zhou Zihan, Ji Iiangyan, Liang Xiumei, Zhou Xianguo, Wen Qiuping, Liu Yingchun, Yu Hongping
Department of Clinical Research, Guangxi Medical University Cancer Hospital, Nanning, Guangxi, China.
Department of Respiratory Oncology, Guangxi Medical University Cancer Hospital, Nanning, China.
Arch Toxicol. 2023 Jun;97(6):1599-1611. doi: 10.1007/s00204-023-03469-5. Epub 2023 Apr 8.
The RAS pathway participates in the cascade of proliferation and cell division process, and the activated RAS pathway can lead to tumorigenesis including hepatocellular carcinoma (HCC). However, few studies have explored the effects of genetic variants in the RAS pathway-related genes on the survival of patients with HBV-related HCC. In the present study, we assessed the associations between 11,658 single-nucleotide polymorphisms (SNPs) in 62 RAS pathway genes and the overall survival (OS) of 866 HBV-related HCC individuals, which were randomly split (1:1) into discovery and validation datasets. As a result, three potentially functional SNPs were identified, based on multivariable cox proportional hazards regression analyses, in SOS Ras/Rho guanine nucleotide exchange factor 2 (SOS2, rs4632055 A > G), Ras protein-specific guanine nucleotide releasing factor 2 (RASGRF2, rs26418A > G) and mitogen-activated protein kinase 1 (MAP2K1,rs57120695 C > T), which were significantly and independently associated with OS of HBV-related HCC patients [adjusted hazards ratios (HRs) of 1.42, 1.32 and 1.50, respectively; 95% confidence intervals (CI), 1.14 to 1.76, 1.15 to 1.53 and 1.15 to 1.97, respectively; P = 0.001, < 0.001 and 0.003, respectively]. Additionally, the joint effects as the unfavorable genotypes of these three SNPs showed a significant association with the poor survival of HCC (trend test P < 0.001). The expression quantitative trait loci (eQTL) analysis further revealed that the rs4632055 G allele and the rs26418 A allele were associated with lower mRNA expression levels of SOS2 and RASGRF2, respectively. Collectively, these potentially functional SNPs of RASGRF2, SOS2 and M2PAK1 may become potential prognostic biomarkers for HBV-related HCC after hepatectomy.
RAS 通路参与增殖和细胞分裂过程的级联反应,激活的 RAS 通路可导致肿瘤发生,包括肝细胞癌(HCC)。然而,很少有研究探讨 RAS 通路相关基因的遗传变异对 HBV 相关 HCC 患者生存的影响。在本研究中,我们评估了 62 个 RAS 通路基因中的 11,658 个单核苷酸多态性(SNP)与 866 例 HBV 相关 HCC 个体的总生存期(OS)之间的关联,这些个体被随机分成(1:1)发现数据集和验证数据集。结果,基于多变量 Cox 比例风险回归分析,在 SOS Ras/Rho 鸟嘌呤核苷酸交换因子 2(SOS2,rs4632055 A>G)、Ras 蛋白特异性鸟嘌呤核苷酸释放因子 2(RASGRF2,rs26418A>G)和丝裂原活化蛋白激酶 1(MAP2K1,rs57120695 C>T)中鉴定出三个潜在功能性 SNP,它们与 HBV 相关 HCC 患者的 OS 显著且独立相关[调整后的风险比(HR)分别为 1.42、1.32 和 1.50;95%置信区间(CI)分别为 1.14 至 1.76、1.15 至 1.53 和 1.15 至 1.97;P 分别为 0.001、<0.001 和 0.003]。此外,这三个 SNP 的不利基因型的联合效应与 HCC 患者的不良生存显著相关(趋势检验 P<0.001)。表达数量性状位点(eQTL)分析进一步表明,rs4632055 G 等位基因和 rs26418 A 等位基因分别与 SOS2 和 RASGRF2 的较低 mRNA 表达水平相关。总体而言,这些 RASGRF2、SOS2 和 M2PAK1 的潜在功能性 SNP 可能成为肝切除术后 HBV 相关 HCC 的潜在预后生物标志物。