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背景:近年多项研究证明NOD2/CARD15基因序列的单核苷酸多态性(SNP)与西方白种人克罗恩病(CD)明显相关,其中3个SNP(R702W、G908R和3020insC)与CD的相关性尤为显著。目的:探讨NOD2/CARD15基因SNP与中国人CD发病的相关性及其与CD临床特点的关系。方法:选取临床资料完整的CD患者48例、溃疡性结肠炎(UC)患者和健康对照者各50例,提取人血白细胞基因组DNA,经聚合酶链反应(PCR)扩增NOD2基因全部12对外显子,纯化后直接测序,根据结果分析其突变与CD病变特点的关系。结果:CD组、UC组和健康对照组均未检出3个西方人常见的NOD2/CARD15基因多态性位点。CD组的P268S突变率显著高于UC组和健康对照组(P<0.05)。5例P268S突变的CD患者病变均位于回肠(P<0.01),4例发病年龄≤20岁(P<0.01),且均并发肠腔狭窄(P<0.01)。结论:中国人CD患者中存在NOD2/CARD15基因P268S突变,且与患者的发病年龄、病变部位和并发症相关,有必要对其功能作进一步探讨。
BACKGROUND: In recent years, a number of studies have shown that the single nucleotide polymorphism (SNP) of NOD2 / CARD15 gene sequence is significantly associated with Western Caucasian Crohn’s disease (CD). Three SNPs (R702W, G908R and 3020insC) The relevance of the CD is especially significant. Objective: To investigate the relationship between SNP of NOD2 / CARD15 gene and the incidence of CD in Chinese and its relationship with the clinical features of CD. METHODS: Forty-eight patients with CD, 50 patients with ulcerative colitis (UC) and 50 healthy controls were enrolled in this study. Genomic DNA of human leukocyte was extracted and all 12 of NOD2 gene were amplified by polymerase chain reaction Exon, purified directly sequenced, according to the results of the analysis of the relationship between the mutation and the characteristics of CD lesions. Results: No common site of NOD2 / CARD15 gene polymorphism was detected in three groups in CD, UC and healthy controls. The mutation rate of P268S in CD group was significantly higher than that in UC group and healthy control group (P <0.05). Five cases of P268S mutant CD patients were located in the ileum (P <0.01), 4 cases of onset ≤ 20 years old (P <0.01), and were complicated with intestinal stenosis (P <0.01). Conclusion: There is a P268S mutation in NOD2 / CARD15 gene in Chinese patients with CD, which is related to the age of onset, the location of the lesion and the complication of the disease. It is necessary to further investigate the function of the gene.