江苏汉族人群白细胞介素-23受体基因多态性与炎症性肠病及其表型的关系

目的 探讨江苏汉族人群中IL-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(rs1 1805303、rs1343151、rs11465804、rs11209032、rs17375018、rs11465788)的基因多态性,分析其与UC、CD各临床表型的关联性.结果 rs 11805303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-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-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％ CI0.988～6.494)；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)；rs 17375018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％ CI1.027～8.283).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.

Association of interleukin-23 receptor gene polymorphisms with susceptibility and phenotypes of inflamumatory bowel diseases in Jiangsu Han population

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 headthy 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 rs11805303 in UC (60.4％) ( P =0.020).In genotypephenotype 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 0.988-6.494),while rs11805303 was associated with age at diagnose and disease lesion (P =O.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-phenot correlation of rs11805303,rs17375018 with UC,CD in Jiangsu Han population.