Department of Pathology, School of Medicine, Wonkwang University, Iksan, Chonbuk, 570-749, Republic of Korea.
Int J Colorectal Dis. 2012 Jun;27(6):701-7. doi: 10.1007/s00384-011-1364-8. Epub 2011 Nov 24.
We previously found that the haplotypes of TNFRSF17 single nucleotide polymorphisms (SNPs) were associated with the susceptibility to inflammatory bowel disease on Korean population. The present study aimed to investigate whether the polymorphisms in the TNFRSF17 gene are associated with susceptibility to colorectal cancer (CRC).
Genotype analysis in the TNFRSF17 SNPs was performed by high-resolution melting and TaqMan probe analysis, and the genotype and allele frequencies of TNFRSF17 SNPs were compared between the CRC patients and the healthy controls. The haplotype frequencies of TNFRSF17 for multiple loci were estimated using the expectation maximization algorithm.
Although, the genotype and allelic frequencies of these SNPs, in the colon cancer and rectal cancer patients, were not significantly different from those in the healthy controls, the genotype and allele frequency of g.2493G>A was significantly different between the healthy controls and the right colon cancer patients (P = 0.014 and 0.004, respectively). Moreover, the haplotypes frequencies in the healthy controls were significantly different from those in the colon cancer patients.
Our results suggest that TNFRSF17 may be a candidate gene associated with the pathogenesis of colon cancer, and the haplotypes of the TNFRSF17 polymorphisms might be one of the markers for colon cancer susceptibility.
我们之前发现 TNFRSF17 单核苷酸多态性（SNP）的单倍型与韩国人群中炎症性肠病的易感性有关。本研究旨在探讨 TNFRSF17 基因中的多态性是否与结直肠癌（CRC）易感性相关。
通过高分辨率熔解和 TaqMan 探针分析对 TNFRSF17 SNP 进行基因分型分析，并比较 CRC 患者和健康对照组中 TNFRSF17 SNP 的基因型和等位基因频率。使用期望最大化算法估计 TNFRSF17 多个位点的单倍型频率。
虽然这些 SNP 在结肠癌和直肠癌患者中的基因型和等位基因频率与健康对照组无显著差异，但 g.2493G>A 的基因型和等位基因频率在健康对照组和右结肠癌患者之间存在显著差异（分别为 P=0.014 和 0.004）。此外，健康对照组的单倍型频率与结肠癌患者明显不同。
我们的结果表明，TNFRSF17 可能是与结肠癌发病机制相关的候选基因，TNFRSF17 多态性的单倍型可能是结肠癌易感性的标志物之一。
