摘要
背景:克罗恩病(CD)的病因和发病机制尚未完全阐明,近年国外研究发现NOD2、IRGM、ATG16L1、STAT4基因突变与CD相关。目的:分析NOD2、IRGM、ATG16L1、STAT4基因多态性与中国汉族人群CD发病的相关性。方法:连续纳入2007年1月~2010年1月苏州市立医院中国汉族CD患者66例,66名健康体检者作为正常对照,以PCR联合基因测序检测4种基因相应单核苷酸多态性(SNP)位点的基因型,分析各基因型和等位基因频率。结果:CD组和正常对照组NOD2基因rs2066842位点、IRGM基因rs13361189位点、ATG16L1基因rs2241880位点和STAT4基因rs7574865位点基因型和等位基因频率分布均符合Hardy-Weinberg遗传平衡定律,两组间4种基因相应SNP位点的基因型和等位基因频率差异均无统计学意义。结论:NOD2、IRGM、ATG16L1和STAT4基因多态性与中国汉族人群CD发病不相关。
Background:The etiology and pathogenesis of Crohn' s disease(CD) has not yet been clarified.In recent years, related studies published abroad have demonstrated the correlation of N0D2,IRGM,ATG16L1 and STAT4 gene mutation with CD.Aims:To analyze the correlation of N0D2,IRGM,ATG16L1 and STAT4 gene polymorphism with CD in Chinese Han population.Methods:Sixty-six consecutive CD patients with Han nationality were enrolled from Jan.2007 to Jan.2010 in Suzhou Municipal Hospital.Sixty-six healthy subjects served as normal controls.All the subjects were genotyped by PCR and direct sequencing to determine the genotype of related single nucleotide polymorphisms(SNP) in the above-mentioned genes,and the genotype and allele frequencies were determined.Results:The genotype and allele frequencies at NOD2 SNP of rs2066842,IRGM SNP of rsl3361189,ATG16L1 SNP of rs2241880 and STAT4 SNP of rs7574865 of CD patients and normal controls were in Hardy-Weinberg equilibrium.There were no significant differences in the genotype and allele frequencies between the two groups.Conclusions:Gene polymorphism of NOD2,IRGM, ATG16L1 or STAT4 is not associated with CD in Chinese Han population.
出处
《胃肠病学》
2011年第8期473-477,共5页
Chinese Journal of Gastroenterology
基金
江苏省医学重点学科-江苏省人民医院胃肠病学开放课题基金资助项目(No.KF200936-6)