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首页> 外文期刊>European journal of human genetics: EJHG >No evidence for involvement of IL-4R and CD11B from the IBD1 region and STAT6 in the IBD2 region in Crohn's disease.
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No evidence for involvement of IL-4R and CD11B from the IBD1 region and STAT6 in the IBD2 region in Crohn's disease.

机译:在克罗恩病中,没有证据表明IBD1区的IL-4R和CD11B和IBD2区的STAT6参与。

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摘要

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.
机译:连锁研究确定了16号染色体上的炎症性肠病(IBD)1基因座和12号染色体上的IBD2基因座与克罗恩病有关。 NOD2 / CARD15被鉴定为IBD1区域内的目标基因。但是,单独用NOD2 / CARD15不能解释与该区域的联系。在这里,我们着手通过在患者-父母三联体中进行传播不平衡测试,评估来自IBD1和IBD2基因座的其他候选基因与克罗恩病的关联。在编码白介素4受体基因(IL-4R),CD11B以及信号转导和转录激活因子6(STAT6)的基因中,没有观察到与遗传变异的显着关联。 IL-4R的结果不受所有携带NOD2中三个风险等位基因之一的家庭的影响。由此我们得出结论,在这个荷兰人队列中,IBD1区的IL-4R和CD11B和IBD2区的STAT6不参与克罗恩氏病。

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