摘要
目的:NOD2/CARD15基因位点上的等位基因G908R、R702W和1007fs,与克罗恩病(CD)易感性之间存在显著而独立的相关性。笔者选择犹太裔CD患儿(≤16岁)和成年患者作为研究对象,比较分析两组患者NOD2/CARD15基因位点的基因型以及基因型-表现型相关性。方法:分析67例CD患儿和成年患者基因序列,采用等位基因特异性聚合酶链反应和限制性内切酶酶切反应,检测上述3个等位基因的携带率。同时,检测患者的表现型征象。结果:上述3个NOD2/CARD15 相关性等位基因的携带率,儿童组为51.1%,成年组为37.5%,两组间差异具有统计学显著性,P=0.07。G908R是最常见的等位基因,患儿组携带率为18%,成年患者组为11%,两组间差异具有统计学显著性,P= 0.063。德系犹太裔患儿的G908R等位基因携带率最高,远高于德系成年患者,两组的携带率分别为25%和9%,组间差异具有统计学显著性,P:0.003。患儿多有炎症性肠道疾患家族史,多患炎症性疾病,但与其携带的等位基因改变没有相关性。结论:德系犹太裔少儿幼年期发生的CD,与患儿NOD2/CARD15基因位点上出现G908R等位基因突变型存在密切的关联。
Objectives The allelic variants in the NOD2/CARD15 gene G908R, R702W, and 1007fs are strongly and independently associated with susceptibility to Crohn's disease (CD) . Our aim was to compare the NOD2/CARD15 genotype and the genotype- phenotype correlation in Jewish pediatric patientswith CD (≤16 years of age) with older patients with CD. Study design Carrier frequencies of the three variants were determined in 67 children and 144 adults with CD. Variants were detected by using al-lele-specific polymerase chain reaction and restriction enzyme digestion assay. Demographic and phenotypic char- acterizations of the patients were determined. Results The carrier rate of the three NOD2/CARD15 - associated variants was 51.5% in children and 37.5% in adults (P = . 07) . The most prevalent allele variant was G908R (allele frequency 18% in children, 11% in adults; P = . 063) . Young Ashkenazi patients had the highest allele frequency of G908R, and higher than Ashkenazi adults: 25% and 9%, respectively (P =.003) . Children had more family history of inflammatory bowel disease and more inflammatory- type disease, with no relation to variant allele carriage. Conclusions G908R allele-variant of the NOD2/CARD15 gene is closely related with the appearance of CD at a young age in Jewish Ashkenazi patients.
