Wang Junqi, Zhang Baoping, Yang Zhi, Zhou Long, Geng Tingting, Li Haipeng, Fu Xiaowei, Xue Xiaolei, Liu Mingwei, Tong Ruifeng, Jin Tianbo, Zhang Yong
Department of Chest Surgery, Baoji Central Hospital, Baoji, 721000, China.
National Engineering Research Center for Miniaturized Detection Systems, School of Life Sciences, Northwest University, Xi'an, 710069, China.
Tumour Biol. 2016 Feb;37(2):1627-33. doi: 10.1007/s13277-015-3945-6. Epub 2015 Aug 26.
Esophageal carcinoma (EC) is a common malignancy worldwide. Previous studies indicated that gastrointestinal gland cancer and EC share some susceptibility loci. Our aim was to identify new single nucleotide polymorphisms (SNPs) associated with EC by investigating whether known gastrointestinal cancers susceptibility loci are found in EC patients. A Chinese Han population case-control study was conducted to assess SNP associations with EC risk. Twenty-six SNPs were selected from gastrointestinal cancer susceptibility loci, and 360 EC patients and 310 controls were genotyped for these SNPs using Sequenom MassARRAY technology. The association of SNP frequencies with EC was analyzed by chi-square tests, and genetic model analysis. After Hardy-Weinberg equilibrium (HWE) p value screening, we excluded two SNPs. Based on chi-square tests, the minor alleles of rs13294589 (p = 0.046) and rs4924935 (p = 0.046) were correlated with reduced EC risk and rs4269383 (p = 0.010) and rs10953615 (p = 0.036) were correlated with increased EC risk. In the genetic model analyses, we found that the minor alleles "T" of rs401681, "A" of rs10088262, and "C" of rs4924935 may reduce the risk of EC. rs401681 has previously been reported to be associated with EC. To the best of our knowledge, we are the first to report an association of the other five SNPs with EC. Our findings provide evidence for the genetic variants associated with susceptibility to EC in the Chinese Han population, which might be used as potential molecular markers for detecting susceptibility to EC in Chinese Han people.
食管癌(EC)是全球常见的恶性肿瘤。既往研究表明,胃肠道腺癌和食管癌有一些易感基因座。我们的目的是通过调查食管癌患者中是否存在已知的胃肠道癌易感基因座,来鉴定与食管癌相关的新单核苷酸多态性(SNP)。开展了一项中国汉族人群病例对照研究,以评估SNP与食管癌风险的关联。从胃肠道癌易感基因座中选择了26个SNP,并使用Sequenom MassARRAY技术对360例食管癌患者和310例对照进行这些SNP的基因分型。通过卡方检验和遗传模型分析,分析SNP频率与食管癌的关联。经过哈迪-温伯格平衡(HWE)p值筛选,我们排除了两个SNP。基于卡方检验,rs13294589(p = 0.046)和rs4924935(p = 0.046)的次要等位基因与食管癌风险降低相关,而rs4269383(p = 0.010)和rs10953615(p = 0.036)与食管癌风险增加相关。在遗传模型分析中,我们发现rs401681的次要等位基因“T”、rs10088262的“A”和rs4924935的“C”可能降低食管癌风险。rs401681此前已被报道与食管癌相关。据我们所知,我们是首个报道其他五个SNP与食管癌关联的研究。我们的研究结果为中国汉族人群中与食管癌易感性相关的基因变异提供了证据,这些变异可能用作检测中国汉族人群食管癌易感性的潜在分子标记。