Department of Pathology, Wonkwang University, Iksan, 570-749, Korea.
Mol Cells. 2010 Jan;29(1):21-8. doi: 10.1007/s10059-010-0002-6. Epub 2009 Dec 7.
TNFRSF17 is preferentially expressed in mature B lymphocytes, and may be important for the development of B cells. TNFRSF17 is selected as a candidate susceptibility gene to IBD pathogenesis by our cDNA microarray analysis, and we showed the specific expression of TNFRSF17 in resting and activated CD19(+) cells obtained from human blood. We identified four SNPs (g-1729G>A, g.2295T>C, g.2445G>A and g.2493G>A) and one variation site (g.894delT) in the TNFRSF17 gene using direct sequencing analysis. In addition, the association of the genotype and allelic frequencies of these SNPs was studied in healthy controls and in patients with ulcerative colitis (UC) or irritable bowel syndrome (IBS). Although, the genotype and allelic frequencies of these SNPs, in the UC and IBS patients, were not significantly different from those in the healthy controls, the distribution of the AAG, GGA, AGG and AAA haplotypes, of the SNPs (g.-1729G>A, g.2445G> A and g.2493G>A) associated with the TNFRSF17 gene, in the UC patients, were notably different from those of the healthy controls (P = 0.002, 0.002, 4.7E-4 and 3.3E-6, respectively). Moreover, the frequencies of the AAG, AGG, GAG and GAA haplotypes were significantly different in the IBS patients compared to the healthy controls (P = 4.2E-5, 4.4E-17, 1.8E-22 and 1.6E-10, respectively). These results suggest that the haplotypes of the TNFRSF17 polymorphisms might be associated with UC and IBS susceptibility.
TNFRSF17 在成熟 B 淋巴细胞中优先表达，可能对 B 细胞的发育很重要。我们通过 cDNA 微阵列分析，将 TNFRSF17 选择为 IBD 发病机制的候选易感基因，并且我们展示了 TNFRSF17 在从人血液中获得的静止和激活的 CD19(+)细胞中的特异性表达。我们使用直接测序分析，在 TNFRSF17 基因中鉴定了四个 SNP（g-1729G>A、g.2295T>C、g.2445G>A 和 g.2493G>A）和一个变异位点（g.894delT）。此外，我们在健康对照者和溃疡性结肠炎（UC）或肠易激综合征（IBS）患者中研究了这些 SNP 的基因型和等位基因频率的相关性。虽然这些 SNP 的基因型和等位基因频率在 UC 和 IBS 患者中与健康对照者没有显著差异，但与 TNFRSF17 基因相关的 SNP（g.-1729G>A、g.2445G>A 和 g.2493G>A）的 AAG、GGA、AGG 和 AAA 单倍型的分布在 UC 患者中明显不同于健康对照者（P = 0.002、0.002、4.7E-4 和 3.3E-6）。此外，与健康对照者相比，IBS 患者的 AAG、AGG、GAG 和 GAA 单倍型的频率也有显著差异（P = 4.2E-5、4.4E-17、1.8E-22 和 1.6E-10）。这些结果表明，TNFRSF17 多态性的单倍型可能与 UC 和 IBS 的易感性有关。
