Klein W, Tromm A, Griga T, Fricke H, Folwaczny C, Hocke M, Eitner K, Marx M, Runte M, Epplen J T
Abteilung für Molekulare Humangenetik, Ruhr-Universität, Bochum, Germany.
Electrophoresis. 2000 Nov;21(17):3578-82. doi: 10.1002/1522-2683(200011)21:17<3578::AID-ELPS3578>3.0.CO;2-Z.
Although genetic predisposition for inflammatory bowel disease (IBD) is well established, little is known about the accountable genes. The pathogenesis of IBD is characterized by an imbalanced activation of Th1- and Th2-lymphocytes. IL-10 represents an anti-inflammatory cytokine which downregulates the production of Th1-derived cytokines. To evaluate the role of the IL-10 gene in IBD, two polymorphisms in the promoter region (G/A at position -1082 and C/A at position -592) were genotyped in 142 patients with Crohn's disease (CD), 104 patients with ulcerative colitis (UC), and 400 healthy controls. Significant differences were not apparent, neither in the allele frequencies of either polymorphism, nor in the haplotype frequencies. Screening of the coding region of the IL-10 gene by polymerase chain reaction--single strand conformation polymorphism (PCR-SSCP) analysis revealed a rare sequence variation in exon 1 leading to an amino acid exchange (G-->A; G15R) in two patients with CD and five healthy controls. Therefore, polymorphisms of the IL-10 gene are not demonstrably involved in the predisposition of IBD in our cohorts of patients.
尽管炎症性肠病（IBD）的遗传易感性已得到充分证实，但对相关致病基因却知之甚少。IBD的发病机制以Th1和Th2淋巴细胞的激活失衡为特征。白细胞介素-10（IL-10）是一种抗炎细胞因子，可下调Th1衍生细胞因子的产生。为评估IL-10基因在IBD中的作用，对142例克罗恩病（CD）患者、104例溃疡性结肠炎（UC）患者和400名健康对照者的启动子区域的两个多态性位点（-1082位的G/A和-592位的C/A）进行了基因分型。无论是哪种多态性的等位基因频率，还是单倍型频率，均未发现明显差异。通过聚合酶链反应-单链构象多态性（PCR-SSCP）分析对IL-10基因的编码区进行筛查，发现在两名CD患者和五名健康对照者的外显子1中有一个罕见的序列变异，导致氨基酸交换（G→A；G15R）。因此，在我们的患者队列中，IL-10基因的多态性与IBD的易感性并无明显关联。
