IL-18的单核苷酸多态性与上海汉族人群溃疡性结肠炎的相关性  

Association between single nucleotide polymorphismin of interleukin-18 gene and ulcerative colitis in Han population of Shanghai

作　　者：董跃滨[1] 薄挽澜[2] 冯晓波[1] 陈国雁[1] 

机构地区：[1]上海市第七人民医院消化科,上海市200137 [2]哈尔滨医科大学附属一院消化科,黑龙江省哈尔滨市150001

出　　处：《世界华人消化杂志》2008年第24期2785-2787,共3页World Chinese Journal of Digestology

摘　　要：目的:检测上海市汉族人群UC患者中IL-18基因的单核苷酸多态性(SNPs),分析其在UC发病中的意义.方法:随机采集上海市几个医院就诊的门诊及住院UC患者50例,为观察组,上海市健康体检者128例为正常对照组,PCR扩增和直接测序法检测观察组和对照组外周血中IL-18基因的4个SNP(rs187238、rs5744228、rs360718和rs360717)的基因分型.结果:在UC患者中,SNP位点rs187238的C、rs360718的C、rs360717的A等位基因频率及他们的基因型频率显著性超过健康对照组(χ2=9.26,P<0.01).对3个SNPs位点的单倍体型频率分析表明,其在UC患者和对照组中也均存在显著的差异(χ2=7.04,P<0.01).结论:UC的发病与易感基因IL-18的SNP(rs187238、rs360718和rs360717)变异及单倍体型变异有关.AIM： To study the single nucleotide polymorphismin （SNP） of interleukin-18 （IL-18） gene in Chinese Han population of Shanghai, and to clarify the significance of IL-18 gene SNP in the development of ulcerative colitis （UC）. METHODS： DNAs were obtained from peripheral blood of 50 UC patients and 128 healthy controls. Genotypes of four IL-18 SNPs （rs187238, rs5744228, rs360718 and rs360717） were identified by polymerase chain reaction （PCR） amplification and direct sequencing. RESULTS： The frequencies of the C allele in rs187238, rs360718, and the A allele in rs360717 were significantly higher in UC patients than those in the controls （x^2 = 9.26, P 〈 0.01）. The haplotype estimation suggested that there was also a significant difference between UC patients and controls （2 = 7.04, P 〈 0.01）. CONCLUSION： Three SNPs and the haplotype of IL-18 gene might be closely related to the etiology of UC.

关 键 词：溃疡性结肠炎 白介素18 单核苷酸多态性 

分 类 号：R394.8[医药卫生—医学遗传学] R394[医药卫生—基础医学]