Li Chun-Shi, Zhang Qinggao, Lee Kwang-Jae, Cho Sung-Won, Lee Kee-Myung, Hahm Ki-Baik, Choi Suck-Chei, Yun Ki-Jung, Chung Hun-Taeg, Chae Soo-Cheon
Genome Research Center for Immune Disorders, Wonkwang University School of Medicine, Iksan, Chonbuk 570-749, South Korea.
J Gastroenterol Hepatol. 2009 Oct;24(10):1692-6. doi: 10.1111/j.1440-1746.2009.05901.x. Epub 2009 Aug 3.
The cytokine interleukin (IL)-27 is composed of two subunits, Epstein-Barr virus-induced gene 3 (EBI3) and p28, and IL-27 is a novel IL-12 family member that mediates between the innate and adaptive immune systems. We previously identified four polymorphisms in the human IL-27 gene and we suggested that the polymorphism of IL-27 is associated with the susceptibility to asthma. IL-27 transcripts are significantly elevated in active Crohn's disease (CD) but not in ulcerative colitis (UC). To determine whether these IL-27 single nucleotide polymorphisms are associated with the susceptibility to inflammatory bowel disease (IBD), the genotype and allelic frequencies of the IL-27 polymorphisms were analyzed between the IBD patients and the healthy controls.
Genotype analysis of the IL-27 gene was performed by the single-base extension (SBE) method. The haplotype frequencies of IL-27 for multiple loci were estimated using the expectation maximization (EM) algorithm.
The genotype frequencies of the g.-964A > G polymorphism in the IBD patients were significantly different from those of the healthy control group (P = 0.001). In both the UC and CD patients, the genotype frequencies of the g.-964A > G polymorphism were also significantly different from the frequencies of the healthy control group (P = 0.009). The frequencies of the AGT and GGT haplotypes were significantly different between the healthy control group and the IBD patient group (P = 0.00004 and 0.021, respectively).
Our results suggest that the g.-964A > G polymorphism of the IL-27 gene located on the IBD1 locus might be associated with the susceptibility to IBD.
细胞因子白细胞介素（IL）-27由两个亚基组成，即爱泼斯坦-巴尔病毒诱导基因3（EBI3）和p28，IL-27是白细胞介素-12家族的一个新成员，在先天性和适应性免疫系统之间起介导作用。我们之前在人类IL-27基因中鉴定出4种多态性，并提出IL-27的多态性与哮喘易感性相关。在活动性克罗恩病（CD）中IL-27转录物显著升高，但在溃疡性结肠炎（UC）中则不然。为了确定这些IL-27单核苷酸多态性是否与炎症性肠病（IBD）易感性相关，我们分析了IBD患者和健康对照者中IL-27多态性的基因型和等位基因频率。
采用单碱基延伸（SBE）法对IL-27基因进行基因型分析。使用期望最大化（EM）算法估计IL-27多个位点的单倍型频率。
IBD患者中g.-964A>G多态性的基因型频率与健康对照组有显著差异（P = 0.001）。在UC和CD患者中，g.-964A>G多态性的基因型频率也与健康对照组有显著差异（P = 0.009）。健康对照组与IBD患者组之间AGT和GGT单倍型频率有显著差异（分别为P = 0.00004和0.021）。
我们的结果表明，位于IBD1位点的IL-27基因的g.-964A>G多态性可能与IBD易感性相关。
