没有证据表明克罗恩病中IBD1区域的IL-4R和CD11B以及IBD2区域的STAT6参与其中。

No evidence for involvement of IL-4R and CD11B from the IBD1 region and STAT6 in the IBD2 region in Crohn's disease.

作者信息

de Jong Dirk J, Franke Barbara, Naber Anton H J, Willemen Judith J H T, Heister Angelien J G A M, Brunner Han G, de Kovel Carolien G F, Hol Frans A

机构信息

Department of Gastroenterology & Hepatology, University Medical Center Nijmegen, The Netherlands.

出版信息

Eur J Hum Genet. 2003 Nov;11(11):884-7. doi: 10.1038/sj.ejhg.5201058.

DOI:10.1038/sj.ejhg.5201058

PMID:14571275

Abstract

Linkage studies have identified the inflammatory bowel disease (IBD)1 locus on chromosome 16 and the IBD2 locus on chromosome 12 to be involved in Crohn's disease. NOD2/CARD15 was identified as the gene of interest within the IBD1 region. However, linkage to this region could not be explained by NOD2/CARD15 alone. Here we set out to assess the association of additional candidate genes from the IBD1 and IBD2 loci with Crohn's disease using transmission disequilibrium testing in patient-parent triads. No significant association was observed with genetic variants in the genes coding for interleukin-4 receptor gene (IL-4R), CD11B and signal transducer and activator of transcription type 6 (STAT6). Results for IL-4R were not affected by exclusion of all families carrying one of three risk alleles in NOD2. From this we conclude that IL-4R and CD11B in the IBD1 region and STAT6 in the IBD2 region are not involved in Crohn's disease in this Dutch cohort.

摘要

连锁研究已确定16号染色体上的炎症性肠病（IBD）1位点和12号染色体上的IBD2位点与克罗恩病有关。NOD2/CARD15被确定为IBD1区域内的目标基因。然而，与该区域的连锁不能仅由NOD2/CARD15来解释。在此，我们着手通过对患者-父母三联体进行传递不平衡检验，评估来自IBD1和IBD2位点的其他候选基因与克罗恩病的关联。未观察到白细胞介素-4受体基因（IL-4R）、CD11B以及信号转导和转录激活因子6（STAT6）编码基因中的遗传变异存在显著关联。排除所有携带NOD2三个风险等位基因之一的家族后，IL-4R的结果未受影响。由此我们得出结论，在这个荷兰队列中，IBD1区域的IL-4R和CD11B以及IBD2区域的STAT6与克罗恩病无关。