中文摘要：

目的探讨江苏汉族人群中IL一23受体基因多态性与炎症性肠病及其表型的关系。方法选取178例炎症性肠病患者[溃疡性结肠炎（UC）135例，克罗恩病（CD）43例]和134例健康对照，检测IL-23受体基因的6个单核苷酸多态性位点（rs11805303、rs1343151、rs11465804、rs11209032、m17375018、rs11465788）的基因多态性，分析其与UC、CD各临床表型的关联性。结果rs11805303的T等位基因频率在UC中为60．4％，高于对照组（50．4％），P=0．020。UC的基因一表型分析显示，rs17375018位点的基因多态性与结肠炎活动性指数（UCDAI）即UC的严重程度相关，携带等位基因G的患者倾向于发生轻度UC。CD的基因一表型分析显示，rs17375018位点的A等位基因频率在诊断年龄≤25岁的CD患者中明显高于诊断年龄〉25岁的患者（41．7％比22．0％，P=0．050，OR=2．532，95％C／0．988～6．494）；rs11805303位点的基因型与CD的诊断年龄、病变范围有关联性（P值分别为0．039和0．044）；rs17375018位点的A等位基因携带者发生肠外表现的几率较等位基因G携带者低（23．1％比46．7％，P=0．040，OR=2．917，95％CI 1．027～8．283）。结论在江苏汉族人群中，rs11805303是UC的易感基因位点，同时rs11805303、rs17375018位点的基因多态性与UC、CD的临床表型有关联性。

英文摘要：

Objective To investigate the possible association of interleukin-23 receptor （IL-23R） polymorphisms with the susceptibility and phenotype of inflammatory bowel diseases （IBD） in Jiangsu Han population. Methods We genotyped 178 IBD patients including 135 patients with ulcerative colitis （UC）, 43 patients with Crohn＇s disease （CD） , and 134 healthy controls for rs11805303, rs1343151, rs11465804, rs11209032, rs17375018, rs11465788. Results Comparing with the controls （50.4%）, there was a significant increase in the carriage of the T allele of rsl 1805303 in UC （60.4%） （P = 0. 020）. In genotype- phenotype correlation of rs17375018 in UC, clinical severity（UCDAI） was associated with the prevalence of the G allele showed a trend to mild activity. Genotype polymorphisms of rs17375018A was observed more in younger than 25 in the genotype-phenotype correlation in CD（41.7% vs 22. 0% , P =0. 050, OR =2. 532, 95% CI O. 988-6. 494）, while rs11805303 was associated with age at diagnose and disease lesion （P = 0. 039 and 0. 044）. The risk of extra intestinal manifestation in rs17375018A allele carriers was lower （23. 1% vs46.7%, P=0.040, OR =2.917, 95%CI 1.027-8.283）. Conclusions We confirmed the susceptibility of rs11805303 polymorphisms with UC and first demonstrated the genotype-phenotype correlation of rs11805303, rs17375018 with UC, CD in Jiangsu Han population.