白细胞介素-23受体基因多态性与中国江苏地区汉族炎症性肠病的关系

目的 研究中国江苏汉族人群炎症性肠病(IBD)发病易感性和白细胞介素-23受体(IL-23R) rs1004819、rs1495965、rs1884444、rs2201841、rs6677188、rs7517847、rs7530511、rs10489629、rs10889677、rs11209026位点单核苷酸多态性(SNP)间的关系。方法 采用多重SNaPshot SNP分型技术，检测134名健康志愿者、135例溃疡性结肠炎(UC)和43例克罗恩病(CD)患者的基因多态性。实验数据使用SPSS 17.0软件进行分析。结果 UC组rs7530511位点CC基因型频率、CT基因型频率、C等位基因频率、T等位基因频率分别为99.26％(134/135)、0.74％(1/135)、99.63％(269/270)、0.37％(1/270)，正常对照组则分别为94.03％(126/134)、5.97％(8/134)、97.01％(260/268)、2.99％(8/268)，两组基因型频率比较P＝0.040、OR＝0.118、95％CI:0.014～0.953,两组等位基因频率比较P＝0.043、OR＝0.121、95％CI:0.015～0.973。在rs6677188野生型和突变型的UC患者中，各年龄段的分布比例不同，突变型者中青年患者较多，野生型者中中年患者较多，P值分别＝0.032和0.001。UC患者中rs6677188 AT基因型者多处于内镜缓解期(P＝0.032)。结论 IL-23R rs7530511位点突变是UC的保护性因素。rs6677188多态性与患者年龄和内镜下缓解与否有关。

The correlation between interleukin-23 receptor gene polymorphism and inflammation bowel disease in Han population of Jiangsu area in China

Objective To investigate the correlation between single nucleotide polymorphisms (SNP) of gene interleukin-23 receptor (IL-23R) rs1004819, rs1495965, rs1884444, rs2201841,rs6677188, rs7517847, rs7530511, rs10489629, rs10889677 and rs11209026 with susceptibility of inflammatory bowel disease (IBD) in Han population of Jiangsu province in China. Methods The gene polymorphism in 134 healthy volunteers, 135 cases of ulcerative colitis(UC) and 43 cases of Crohn's disease(CD) were detected with SNaPshot. Experimental data were analyzed with SPSS 17.0 software. Results In UC, genotype frequency of CC and CT on rs7530511 was 99.26％ (134/135)and 0.74％(1/135), allele frequency of C and T was 99.63％(269/270)and 0. 37％(1/270). While in normal controls, which were 94.03％(126/134), 5.97％(8/134), 97.01 ％(260/268)and 2.99％(8/268)respectively. Compared genotype frequency of these two group, P value was 0. 040 (OR＝0.118、95％CI:0.014～0.953). Compared allele frequency of these two group, P value was 0. 043 (OR＝0.121、95％CI:0.015～0.973). In wild type and mutation type UC patients, the age distribution was different, more young patients in mutation type while more middle-aged patients in wild type, P value was 0.032 and 0.001 respectively. Most UC patients of rs6677188 AT type were in remission under endoscope (P＝0.032). Conclusion The mutation of IL-23R rs7530511 may be a protective factor of UC. The polymorphism of rs6677188 was associated with the age of patients and the remission under endoscope.