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一项全基因组关联研究发现,6p21.1 上的遗传变异 rs10484761 与中国人群胃癌的生存相关。

Genetic variation rs10484761 on 6p21.1 derived from a genome-wide association study is associated with gastric cancer survival in a Chinese population.

机构信息

Department of Environmental Genomics, Jiangsu Key Laboratory of Cancer Biomarkers, Prevention and Treatment, Cancer Center, 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 Genetic Toxicology, The Key Laboratory of Modern Toxicology of Ministry of Education, School of Public Health, Nanjing Medical University, Nanjing, China; Core Laboratory of Nantong Tumor Hospital, Nantong, China.

出版信息

Gene. 2014 Feb 15;536(1):59-64. doi: 10.1016/j.gene.2013.11.087. Epub 2013 Dec 8.

DOI:10.1016/j.gene.2013.11.087
PMID:24325909
Abstract

A recent genome-wide association study (GWAS) on esophageal squamous-cell carcinoma (ESCC) among Chinese people has discovered a novel single nucleotide polymorphism (SNP) rs10484761 on 6p21.1 region. We hypothesized that SNP rs10484761 T/C is associated with survival of gastric cancer. We genotyped SNP rs10484761 in 940 gastric cancer patients treated with surgical resection. Kaplan-Meier survival analysis, log-rank test, and Cox proportional hazard models were used to evaluate the association between the SNP rs10484761 and gastric cancer survival. In the dominant model, those who carry TC/CC genotypes had a significant shorter survival time (log-rank P=0.005), especially in the subgroups of aged male patients, cardia intestinal tumor (HR=1.41, 95% CI=1.08-1.84 for cardia cancer and HR=1.64, 95% CI=1.14-2.37 for intestinal-type), tumor size ≤ 5 cm (HR=1.41, 95% CI=0.56-0.99), T1 depth invasion (HR=2.34, 95% CI=1.20-4.56), lymph node metastasis (HR=1.51, 95% CI=1.19-1.96), no distant metastasis (HR=1.33, 95% CI=1.05-1.68), TNM stage III+IV (HR=1.50, 95% CI=1.13-1.98), and with chemotherapy (HR=1.53, 95% CI=1.17-1.99). The results indicated that SNP rs10484761 was associated with prognosis of gastric cancer, suggesting that this genetic variant may serve as a potential marker to predict the survival of gastric cancer in Chinese population.

摘要

最近一项针对中国人食管鳞状细胞癌(ESCC)的全基因组关联研究(GWAS)发现了位于 6p21.1 区域的一个新的单核苷酸多态性(SNP)rs10484761。我们假设 SNP rs10484761 T/C 与胃癌的生存有关。我们对 940 名接受手术切除治疗的胃癌患者进行了 SNP rs10484761 基因分型。使用 Kaplan-Meier 生存分析、对数秩检验和 Cox 比例风险模型来评估 SNP rs10484761 与胃癌生存之间的关联。在显性模型中,携带 TC/CC 基因型的患者生存时间明显缩短(对数秩检验 P=0.005),尤其是在年龄较大的男性患者、贲门肠型肿瘤(贲门癌 HR=1.41,95%CI=1.08-1.84;肠型 HR=1.64,95%CI=1.14-2.37)、肿瘤大小≤5cm(HR=1.41,95%CI=0.56-0.99)、T1 深度浸润(HR=2.34,95%CI=1.20-4.56)、淋巴结转移(HR=1.51,95%CI=1.19-1.96)、无远处转移(HR=1.33,95%CI=1.05-1.68)、TNM 分期 III+IV(HR=1.50,95%CI=1.13-1.98)和接受化疗的患者(HR=1.53,95%CI=1.17-1.99)中。结果表明,SNP rs10484761 与胃癌的预后有关,提示该遗传变异可能成为预测中国人胃癌生存的潜在标志物。

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