Ebrahimi Daryani Nasser, Saghazadeh Amene, Moossavi Shirin, Sadr Maryam, Shahkarami Sepideh, Soltani Samaneh, Farhadi Elham, Rezaei Nima
a Department of Gastroenterology and Hepatology , Tehran University of Medical Sciences , Tehran , Iran.
b Molecular Immunology Research Center , Tehran University of Medical Sciences , Tehran , Iran.
Immunol Invest. 2017 Oct;46(7):714-729. doi: 10.1080/08820139.2017.1360343.
Changes in cytokine expression have been frequently found in patients with inflammatory bowel disease (IBD). Cytokine values outside the normal range may be somewhat related to common polymorphisms within cytokine genes.
The present study was designed to investigate the possible association between polymorphisms within Interleukin IL-4 and IL-10 genes and susceptibility to and clinical features of IBD.
The study population was composed of 140 healthy controls and 75 patients with IBD (40 patients with Crohn's disease (CD) and 35 patients with ulcerative colitis (UC)). Genotyping was performed using polymerase chain reaction with sequence-specific primers.
Higher frequencies for the C allele of IL-4-590 polymorphism (P < 0.0001; odds ratio [OR], 5.68; 95% confidence interval [95% CI], 3.28-9.83) and for the T allele of IL-4-1098 polymorphism (P = 0.016; OR, 1.83; 95% CI, 1.11-3.02) were observed in the whole group of IBD patients. The IL-4-590 C allele was also significantly overrepresented when IBD patients were subdivided into CD and UC (P < 0.0001; OR, 5.2-6.28). While the IL-4-1098 T allele was present at higher frequencies in patients with UC (P = 0.05; OR, 1.95), but not in CD (P = 0.09). Multiple pairwise comparisons indicated that genotypes of all polymorphisms investigated within IL-4 gene are correlated with IBD, CD, and UC. Haplotype analysis showed that the IL-4-1098/-590 TC haplotype might predispose individuals to IBD, CD, and UC whereas the IL-4-1098/-590 TT and GC haplotypes have a protective effect. On the contrary, neither allele nor genotype frequencies of IL-10 polymorphisms (IL-10-1082 A > G, IL-10-592 A > C, and IL-10-819 T > C) were associated with IBD, CD, or UC.
The present study suggests that IL-4 polymorphisms might play a role in susceptibility to IBD and its major subtypes in the Iranian population.
炎症性肠病（IBD）患者中经常发现细胞因子表达的变化。细胞因子值超出正常范围可能与细胞因子基因内的常见多态性有一定关系。
本研究旨在探讨白细胞介素IL-4和IL-10基因内的多态性与IBD易感性及临床特征之间的可能关联。
研究人群包括140名健康对照者和75名IBD患者（40名克罗恩病（CD）患者和35名溃疡性结肠炎（UC）患者）。采用序列特异性引物聚合酶链反应进行基因分型。
在整个IBD患者组中，观察到IL-4 -590多态性的C等位基因频率较高（P < 0.0001；优势比[OR]，5.68；95%置信区间[95% CI]，3.28 - 9.83），以及IL-4 -1098多态性的T等位基因频率较高（P = 0.016；OR，1.83；95% CI，1.11 - 3.02）。当将IBD患者细分为CD和UC时，IL-4 -590 C等位基因也显著过量存在（P < 0.0001；OR，5.2 - 6.28）。虽然IL-4 -1098 T等位基因在UC患者中频率较高（P = 0.05；OR，1.95），但在CD患者中并非如此（P = 0.09）。多重两两比较表明，IL-4基因内研究的所有多态性的基因型与IBD、CD和UC相关。单倍型分析表明，IL-4 -1098/-590 TC单倍型可能使个体易患IBD、CD和UC，而IL-4 -1098/-590 TT和GC单倍型具有保护作用。相反，IL-10多态性（IL-10 -1082 A>G、IL-
