IRGM和ATG16L1基因多态性与中国汉族人群克罗恩病的相关性  

Association of IRGM and ATG16L1 gene polymorphisms with Crohn's disease in the Chinese Han population

作　　者：郑连民[1] 庞智[1,2] 

机构地区：[1]南京医科大学附属苏州医院消化内科,江苏苏州215008 [2]苏州市消化系疾病与营养研究中心

出　　处：《胃肠病学和肝病学杂志》2012年第5期437-440,共4页Chinese Journal of Gastroenterology and Hepatology

摘　　要：目的分析IRGM和ATG16L1基因多态性与中国汉族人群克罗恩病(crohn’s disease,CD)发病的相关性。方法选取中国汉族CD患者和健康对照者各318例纳入研究,采用聚合酶链式反应和直接测序方法检测其IRGM和ATG16L1基因的基因型,比较两组间基因型和等位基因频率。结果 CD组和正常对照组IRGM基因rs13361189位点、ATG16L1基因rs2241880位点基因型和基因频率分布均符合Hardy-Weinberg遗传平衡定律,两组间2种基因相应的SNP位点的基因型和等位基因频率差异均无统计学意义(P>0.05)。结论虽然IRGM和ATG16L1基因的遗传变异与西方白种人CD的易感性相关,但是IRGM和ATG16L1基因多态性却与中国汉族人CD无明显相关性。Objective To analyze the association of IRGM and ATG16L1 gene polymorphisms with Crohn＇ s disease in the Chinese Han population. Methods Samples from 318 patients with Crohn＇ s disease and 318 healthy controls were genotyped for IRGM and ATG16L1 polymorphisms by polymerase chain reaction and direct sequencing. The geno- type and allele gene frequency were compared between the two groups. Results The genotype and allele frequencies at IRGM SNP of rs13361189 and ATG16L1 of rs2241880 of CD patients and normal controls were in Hardy-Weinberg equi- librium. There were no significant differences in the genotype and allele frequencies between the two groups （P 〉 0.05）. Conclusion IRGM and ATG16L1 variations are associated with susceptibility to CD in Western population, but they are not significantly associated with CD in the Chinese Han population.

关 键 词：克罗恩病 IRGM ATG16L1 多态性 汉族 

分 类 号：R574.62[医药卫生—消化系统]