中国汉族人群NOD2、IRGM、ATG16L1和STAT4基因多态性与克罗恩病的相关性研究

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 N0D2, IRGM, ATG16L1 or STAT4 is not associated with CD in Chinese Han population.