论文部分内容阅读
目的发现与中国人克罗恩病(CD)发病相关的单核苷酸多态性(SNP)及其与临床特点的关系。方法临床资料完整的CD、溃疡性结肠炎(UC)患者及健康体检者各30例。提取人血白细胞基因组DNA．PCR扩增NOD2基因第4、8、11外显子,纯化后直接测序。结果5例CD患者有SNP改变,其中2例为P268S,1例为R459R,2例为P268S和R459R,而在UC患者和健康人中各检测到1例R459R。所有研究对象未发现R702W、G908R及3020insC改变。CD有4例P268S,与UC和健康体检者比较差异有统计学意义(χ~2=8．037,P＜0．05)。4例P268S CD患者病变均在回肠(χ~2=9．231,P=0．01)．发病年龄小于20岁(χ~2=10．769,P＜0．01),并发肠腔狭窄而需手术(χ~2=7．972,P＜0．01),2例有P268S和R459R的患者病情较重,多次复发。结论P268S可能是CARD15/NOD2基因中与中国人CD相关的SNP,与患者发病年龄、病变部位及肠腔狭窄明显相关,与患者性别及病变严重程度无关。
Objective To find a single nucleotide polymorphism (SNP) associated with the pathogenesis of Crohn ’s disease (CD) in Chinese and its relationship with clinical features. Methods The clinical data of complete CD, ulcerative colitis (UC) patients and 30 healthy subjects. Human blood leukocyte genomic DNA was extracted. The NOD2 gene exon 4, exon 11 and exon 8 were amplified by PCR and sequenced directly. Results Five patients with CD had SNP. Two of them were P268S, one was R459R, two were P268S and R459R, while one R459R was detected in UC patients and healthy individuals. All subjects did not find R702W, G908R and 3020insC changes. There were 4 cases of P268S in CD, which were significantly different from UC and healthy subjects (χ ~ 2 = 8.037, P <0.05). The pathological changes of 4 patients with P268S CD were in the ileum (χ ~ 2 = 9.231, P = 0.01). The age of onset was less than 20 years old (χ ~ 2 = 10.769, P <0.01), complicated with intestinal stenosis requiring surgery (χ ~ 2 = 7.972, P <0.01) and 2 cases with P268S and R459R Patients in severe condition, multiple relapse. Conclusions P268S may be a SNP associated with Chinese CD in CARD15 / NOD2 gene, which is significantly associated with the age of onset, the location of lesions and the stenosis of the intestine, not related to the gender and severity of the disease.