Kamoun Mariam, Chelbi Hanene, Houman Mohamed Habib, Lacheb Jihene, Hamzaoui Kamel
Homeostasis and Cell Dysfunction Unit Research 99/UR/08-40, Medicine University, Tunis, Tunisia.
Hum Immunol. 2007 Mar;68(3):201-5. doi: 10.1016/j.humimm.2006.12.006. Epub 2007 Jan 5.
Behcet's disease (BD) is an inflammatory disorder that is mainly characterized by recurrent oral and genital ulcers, skin lesions, and uveitis. Recent reports focused on the genetic factors of susceptibility to this disease and especially the TNF in view of the major role played by this proinflammatory cytokine in the lesional process of Behcet's disease. In this report, we investigated the possible association between Behcet's disease and the TNF-alpha gene promoter polymorphisms -1031T/C, -308A/G, and the TNF-beta polymorphism +252A/G in Tunisian population. We compared the distribution of these polymorphisms between 89 BD patients and 157 healthy controls using polymerase chain reaction restriction fragment length-polymorphism (PCR-RFLP) analysis. The frequency of the TNF-alpha -1031C allele was significantly higher in Behcet's patients than in healthy controls (p = 0.015; chi(2) = 5.84; OR = 1.65; 95% CI = 1.08-2.54), whereas the frequencies of the TNF-alpha -308G and the TNF-beta +252G alleles were similar in the two compared groups. These results suggest that the variability of the TNF-alpha -1031T/C polymorphism can be associated with the susceptibility to Behcet's disease in our study group. Therefore, the TNF molecule may have an important genetically and/or functionally implication in the pathogenesis of BD in the Tunisian population.
白塞病(BD)是一种炎症性疾病,主要特征为复发性口腔溃疡、生殖器溃疡、皮肤病变和葡萄膜炎。近期报告聚焦于该疾病易感性的遗传因素,鉴于促炎细胞因子肿瘤坏死因子(TNF)在白塞病病变过程中发挥的主要作用,尤其关注了TNF。在本报告中,我们调查了突尼斯人群中白塞病与TNF-α基因启动子多态性-1031T/C、-308A/G以及TNF-β多态性+252A/G之间可能存在的关联。我们使用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)分析比较了89例白塞病患者和157例健康对照者中这些多态性的分布情况。白塞病患者中TNF-α -1031C等位基因的频率显著高于健康对照者(p = 0.015;χ² = 5.84;OR = 1.65;95%可信区间 = 1.08 - 2.54),而TNF-α -308G和TNF-β +252G等位基因的频率在两组比较中相似。这些结果表明,在我们的研究组中,TNF-α -1031T/C多态性的变异性可能与白塞病易感性相关。因此,TNF分子可能在突尼斯人群白塞病的发病机制中具有重要的遗传和/或功能意义。