Department of Environmental Genomics, Jiangsu Key Laboratory of Cancer Biomarkers, Prevention and Treatment, Collaborative Innovation Center for Cancer Personalized Medicine, Nanjing Medical University, Nanjing, China; Department of Genetic Toxicology, The Key Laboratory of Modern Toxicology of Ministry of Education, School of Public Health, Nanjing Medical University, Nanjing, China.
Department of Environmental Genomics, Jiangsu Key Laboratory of Cancer Biomarkers, Prevention and Treatment, Collaborative Innovation Center for Cancer Personalized Medicine, Nanjing Medical University, Nanjing, China; Core Laboratory, Nantong Tumor Hospital, Nantong, China.
Gene. 2018 Jul 15;663:196-202. doi: 10.1016/j.gene.2018.03.043. Epub 2018 Mar 15.
We explored the association between single nucleotide polymorphisms (SNPs) rs207454 and rs494852 located in xanthine dehydrogenase (XDH) and gastric cancer (GC) survival.
A total of 940 patients with gastric cancer were enrolled and genotyped using TaqMan allelic discrimination method. The Kaplan-Meier test and log-rank examine were used to assess the effect of genetic variation.
Patients carrying rs207454 CC genotype had a longer survival time than those with the AA genotype (P = 0.042). The similar association was detected in the recessive model (P = 0.017). We conducted expression quantitative trait loci (eQTL) analysis and found that gastric cancer patients carrying rs207454 CC genotype had significant lower XDH levels than those with AA/AC genotype, suggesting that rs207454 polymorphism effected the expression of XDH. Additionally, the Kaplan-Meier curves showed that gastric cancer patients with high expression of XDH had remarkably poor survival outcome than those with low expression (hazard ratio [HR] = 1.53, 95% confidence interval [CI] = 1.29-1.82).
Genetic variants in XDH were associated with the survival of gastric cancer and may act as prognostic markers for individual suffered from gastric cancer.
我们探讨了黄嘌呤脱氢酶（XDH）中 rs207454 和 rs494852 单核苷酸多态性（SNP）与胃癌（GC）生存之间的关联。
共纳入 940 例胃癌患者，采用 TaqMan 等位基因鉴别法进行基因分型。使用 Kaplan-Meier 检验和对数秩检验评估遗传变异的影响。
携带 rs207454 CC 基因型的患者生存时间长于携带 AA 基因型的患者（P=0.042）。在隐性模型中也检测到了类似的关联（P=0.017）。我们进行了表达数量性状基因座（eQTL）分析，发现携带 rs207454 CC 基因型的胃癌患者 XDH 水平显著低于 AA/AC 基因型，提示 rs207454 多态性影响 XDH 的表达。此外，Kaplan-Meier 曲线显示，XDH 高表达的胃癌患者的生存结局明显差于 XDH 低表达的患者（风险比 [HR] = 1.53，95%置信区间 [CI] = 1.29-1.82）。
XDH 中的遗传变异与胃癌的生存有关，可能是胃癌患者的预后标志物。
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