新疆维吾尔族和汉族溃疡性结肠炎患者IL-23R基因多态性的初步研究

Gene polymorphisms of interleukin-23 receptor in Uygur and Han Chinese patients with ulcerative colitis

目的初步探讨新疆维汉民族溃疡性结肠炎(ulcerative colitis,UC)患者及正常对照人群中白介素23受体(interleukin-23 receptor,IL-23R)基因中9个单核苷酸多态性(single nucleotide polymorphism,SNP)位点的基因型,以探究IL-23R基因的UC易感位点.方法采用SNaPshot SNP分型技术对263个样本进行9个SNP位点基因分型,分析上述位点基因型,对比维汉民族、维吾尔族UC组与对照组,汉族UC组与对照组上述位点基因型频率、等位基因频率,探索IL-23R基因的UC易感位点及其在维汉民族间有无差异.结果与维吾尔族对照组相比,维吾尔族UC组在rs11805303、rs17375018基因型上差异有统计学意义(P<0.05).与汉族对照组相比,汉族UC组在rs1495965、rs11805303、rs17375018基因型上差异有统计学意义(P<0.05).维吾尔族UC组与汉族UC组在上述9个SNP位点的基因型差异无统计学意义(P>0.05).结论IL-23R基因的rs1495965、rs11805303、rs17375018可能是影响UC发病的易感位点,但本研究涉及IL-23R基因9个SNP位点基因型在维汉民族间无明显差异,考虑上述位点可能不是民族易感性位点.

AIM To genotype nine single nucleotide polymorphism（SNP） loci of the IL-23R gene in Uygur and Han patients with ulcerative colitis（UC） to identify the loci associated with susceptibility to UC.METHODS The SNaPshot SNPS genotyping technology was used to assay nine SNP loci of the IL-23R gene in 263 samples. The genotype frequency and allele frequency of the above loci were compared between Han UC patients and Uygur UC patients, between Uygur UC patients and normal controls, and between Han UC patients and normal controls to identify the loci associated with susceptibility to UC. The possible differences in the loci associated with susceptibility to UC between Uygur and Han populations were also explored.RESULTS The genotypes of rs11805303 and rs17375018 loci differed significantly between the UygurUC group and the control group（P 0.05）. The genotypes of rs1495965, rs11805303 and rs17375018 loci differed significantly between the Han UC group and the control group（P 0.05）. The genotypes of the nine SNP loci showed no differences between the Uygur UC group and the Han UC group（P 0.05）.CONCLUSION The rs1495965, rs11805303 and rs17375018 loci of the IL-23R gene may be associated with susceptibility to UC. The nine SNPs studied show no difference between the Uygur UC group and the Han UC group.