Association analysis of SLC22A4, SLC22A5 and DLG5 in Japanese patients with Crohn disease
Association analysis of SLC22A4, SLC22A5 and DLG5 in Japanese patients with Crohn disease
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DOI：
10.1007/s10038-004-0204-x
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发表时间：
2004-10
影响因子：
3.5
通讯作者：
K. Yamazaki;M. Takazoe;Torao Tanaka;T. Ichimori;S. Saito;A. Iida;Y. Onouchi;A. Hata;Yusuke Nakamura
中科院分区：
文献类型：
--
作者：
K. Yamazaki;M. Takazoe;Torao Tanaka;T. Ichimori;S. Saito;A. Iida;Y. Onouchi;A. Hata;Yusuke Nakamura
克罗恩病（CD）是一种炎症性肠病，其特征是慢性透壁、节段性和典型的肉芽肿性肠道炎症。最近，通过对高加索人CD患者的关联分析，确定了与CD相关的两个新的候选基因位点，5号染色体上的SLC22A4和SLC22A5，称为IBD 5和10号染色体上的DLG 5。我们在日本CD患者中验证了这些候选基因，发现与SLC22A4（P= 0.028）和DLG5（P= 0.023）之间存在微弱但可能的关联。然而，在高加索人群中报告的致病性遗传变异在日本CD患者中完全不存在或与日本CD患者无关。这些发现意味着不同种族群体之间CD易感性的遗传背景存在显着差异，并进一步表明以人群为基础的研究存在一定的困难。
Crohn disease (CD) is an inflammatory bowel disease characterized by chronic transmural, segmental, and typically granulomatous inflammation of the gut. Recently, two novel candidate gene loci associated with CD, SLC22A4 and SLC22A5 on chromosome 5 known as IBD5 and DLG5 on chromosome 10, were identified through association analysis of Caucasian CD patients. We validated these candidate genes in Japanese patients with CD and found a weak but possible association with both SLC22A4 (P= 0.028) and DLG5 (P= 0.023). However, the reported genetic variants that were indicated to be causative in the Caucasian population were completely absent in or were not associated with Japanese CD patients. These findings imply significant differences in genetic background with CD susceptibility among different ethnic groups and further indicate some difficulty of population-based studies.