Liver and Gastrointestinal Disease Research Centre of Tabriz University of Medical Sciences, Tabriz, Iran.
Saudi J Gastroenterol. 2014 Mar-Apr;20(2):108-12. doi: 10.4103/1319-3767.129475.
Crohn's disease (CD) and ulcerative colitis (UC) are chronic inflammatory diseases of the bowel (IBD) whose causes are not fully known. Emerging data indicate that alterations in cytokine synthesis may play a role in IBD pathogenesis.
We aimed to determine the association between tumor necrosis factor-alfa (TNFα) promoter polymorphisms (at positions - 308 and - 1031) and susceptibility to IBD among Iranian Azari Turkish patients.
One hundred and one patients with IBD and 100 healthy subjects were analyzed.
Both polymorphisms in the promoter region of the TNFα gene at positions -1031T/C and -308G/A were detected by polymerase chain reaction-restriction fragment length polymorphism assay. All statistical analyses were calculated with SPSS for Windows 16.0. The Fisher's exact test was used to test for departure from Hardy-Weinberg equilibrium of the genotype frequencies (P > 0.05).
The allele frequency of the TNFα-308G and -1031T were higher in IBD patients but did not reach statistical significance. However, the homozygous TT genotype for the SNP-1031 T > C was significantly higher in UC patients than in healthy controls (P = 0.01) and the heterozygous CT genotype for the SNP -1031 T > C was significantly lower in UC patients than in healthy controls (P = 0.03).
The TNFα-1031 T allele confers a significant risk for developing UC in Iranian Azeri Turkish patients. Also the frequency of TNFα-1031 C allele was considerably low among patients with UC and it may have protective role among them (OR = 0.43; P = 0.01).
克罗恩病（CD）和溃疡性结肠炎（UC）是一种慢性肠道炎症性疾病（IBD），其病因尚未完全明确。新出现的数据表明，细胞因子合成的改变可能在 IBD 的发病机制中起作用。
我们旨在确定肿瘤坏死因子-α（TNFα）启动子多态性（位于-308 和-1031 位）与伊朗阿扎里土耳其患者 IBD 易感性之间的关系。
分析了 101 例 IBD 患者和 100 例健康对照者。
采用聚合酶链反应-限制性片段长度多态性分析方法检测 TNFα 基因启动子区-1031T/C 和-308G/A 两个多态性。所有统计分析均采用 Windows 16.0 版 SPSS 进行。Fisher 确切检验用于检验基因型频率是否偏离 Hardy-Weinberg 平衡（P＞0.05）。
TNFα-308G 和-1031T 的等位基因频率在 IBD 患者中较高，但无统计学意义。然而，SNP-1031T＞C 的 TT 纯合子在 UC 患者中明显高于健康对照组（P=0.01），SNP-1031T＞C 的 CT 杂合子在 UC 患者中明显低于健康对照组（P=0.03）。
TNFα-1031T 等位基因显著增加伊朗阿扎里土耳其患者发生 UC 的风险。此外，TNFα-1031C 等位基因在 UC 患者中的频率相当低，可能对其具有保护作用（OR=0.43；P=0.01）。
