Department of Pathobiology and Medical and Forensic Biotechnologies, University of Palermo, Corso Tukory 211, 90134, Palermo, Italy.
Biochem Genet. 2013 Dec;51(11-12):967-75. doi: 10.1007/s10528-013-9621-x. Epub 2013 Jul 16.
Cytokines act as pleiotropic polypeptides able to regulate inflammatory/immune responses and to provide important signals in physiological and pathological processes. Several cytokines (Th1, Th2, and Th17) seem to be involved in the pathophysiology of Behçet's disease, a chronic immune-mediated disease characterized by oral and genital lesions and ocular inflammation. Its individual susceptibility seems to be modulated by genetic variants in genes codifying these cytokines. Th1 and Th17 seem to be involved in the disease's active phases, and Th2 seems to affect the development or severity of the disease; however, contrasting data are reported. In this study, some genetic variants of the Th1/Th2 cytokine genes were investigated in Sicilian patients and age- and gender-matched controls. Three very significant associations with Behçet's disease were detected, and combined genotypes associated with increased disease risk were identified. Results obtained point to the key role of Th1/Th2 cytokine genetic variants in disease susceptibility.
细胞因子作为多效性多肽，能够调节炎症/免疫反应，并在生理和病理过程中提供重要信号。几种细胞因子（Th1、Th2 和 Th17）似乎参与了贝切特病的病理生理学，贝切特病是一种慢性免疫介导的疾病，其特征是口腔和生殖器溃疡以及眼部炎症。其个体易感性似乎受到编码这些细胞因子的基因中的遗传变异的调节。Th1 和 Th17 似乎参与了疾病的活动期，而 Th2 似乎影响疾病的发展或严重程度；然而，报告的数据存在矛盾。在这项研究中，研究了西西里岛患者和年龄及性别匹配的对照组中 Th1/Th2 细胞因子基因的一些遗传变异。发现了与贝切特病有三个非常显著关联的遗传变异，并且确定了与增加疾病风险相关的组合基因型。所获得的结果表明 Th1/Th2 细胞因子遗传变异在疾病易感性中起着关键作用。
